but there may be missing data from Cong as we do not have the same statistic
PQH4TSG45VGDCET56PCO5UQCRMACEJBETTE4FJA7IOPQGGVIOOEAC - BPAN = a subset, with a distinct phenotype (describe it)- first reported by- Evolution
- BPAN = a subset- first reported in 2012- distinct phetotypes : non progressive until adulthood ->> parkinsonism, dystonia and dementia
- BPAN- Rett-like syndrome- intellectual disability- developmental and epileptic encephalopathy- early-onset epileptic encephalopathy (EOEE) and West syndrome,
- BPAN 66.4%- Rett-like syndrome 2.1%- intellectual disability 1.4%- developmental and epileptic encephalopathy 12.1%- early-onset epileptic encephalopathy (EOEE) 2.9%- West syndrome 2.1%
* Scripts :noexport:Stats sur Cong#+begin_src python :results output# Missing variants ?? We should have 123+17 but 2 are missing...import pandas as pdd = pd.read_csv("data_cong.csv")print(d.diagnosis.value_counts(normalize=True).mul(100))# print(d.disease.value_counts)#+end_src#+RESULTS:#+begin_exampleBPAN 62.589928DEE 12.230216unclassified 12.230216BPAN (RLS) 2.877698EOEE 2.877698RLS 2.158273West syndrome 2.158273BPAN (DEE) 1.438849ID 1.438849Name: diagnosis, dtype: float64#+end_example
"diagnosis","variant","inheritance"," ","variant"," ","sex","age","reference""BPAN","c.1A>G",,"de novo",,"nonsense","F","31","46""BPAN","c.-1_5del",,"de novo",,"nonsense","F","30","49""BPAN","c.1_362del",,"unknown",,"nonsense","F","10","54""BPAN","c.19C>T",,"de novo",,"nonsense","F","34","49""BPAN","c.19dup",,"de novo",,"frame shift","M","31","49""BPAN","c.27dup(hemi)",,"inherited",,"frame shift","F","34","112""BPAN","c.38G>C",,"de novo",,"missense","F","44","49""BPAN","c.55+1G>C",,"de novo",,"splicing defect","F","43","49""BPAN","c.55+1G>C",,"unknown",,"splicing defect","M","10 mo","54""BPAN","c.56-1G>A",,"de novo",,"splicing defect","F","22","49""BPAN","c.64del",,"de novo",,"frameshift","F","36","113, 114""BPAN","c.125dup",,"unknown",,"frameshift","F","2","115, 116""BPAN","c.131-2A>G",,"de novo",,"splicing defect","F","15","54""BPAN","c.161_163del",,"inherited",,"deletion","M","20","57""BPAN","c.161_163del",,"inherited",,"deletion","F","14","57""BPAN","c.183C>A",,"de novo",,"missense","F","17","49""BPAN","c.186del",,"de novo",,"frameshift","F","16","46""BPAN","c.224C>A",,"unknown",,"nonsense","F","1","116""BPAN","c.228_229del",,"de novo",,"frameshift","M","37","49""BPAN","c.235+1G>A",,"de novo",,"splicing defect","F","35","49""BPAN","c.236-18A>G",,"de novo",,"splicing defect","F","6","117""BPAN","c.249G>A",,"de novo",,"nonsense","F","29","118""BPAN","c.251A>G",,"de novo",,"missense","F","18","119""BPAN","c.293T>C",,"de novo",,"missense","F","29","49""BPAN","c.293T>C",,"de novo",,"missense","F","41","120""BPAN","c.299T>C",,"de novo",,"missense","F","6","60""BPAN","c.305dup",,"de novo",,"frame shift","M","44","121""BPAN","c.322del",,"de novo",,"frameshift","F","39","122""BPAN","c.342-2A>C",,"de novo",,"splicing defect","F","15","123""BPAN","c.344+4A>C",,"de novo",,"splicing defect","M","10","54""BPAN","c.344+5G>A",,"de novo",,"splicing defect","F","N.A.","124""BPAN","c.345-1G>A",,"unknown",,"frameshift","F","38","125""BPAN","c.359dup",,"de novo",,"frameshift","F","45","49""BPAN","c.400C>T",,"de novo",,"nonsense","F","35","120""BPAN","c.400C>T",,"de novo",,"nonsense","F","49","49""BPAN","c.400C>T",,"de novo",,"nonsense","F","5","126""BPAN","c.400C>T",,"de novo",,"nonsense","F","5","54""BPAN","c.405_409del",,"de novo",,"frame shift","F","40","49""BPAN","c.411dup",,"unknown",,"frameshift","F","34","127""BPAN","c.412insT",,"de novo",,"frameshift","F","39","128""BPAN","c.414_419del",,"de novo",,"deletion","F","36","120""BPAN","c.437dup",,"unknown",,"splicing defect","F","40","50""BPAN","c.439+1G>T",,"de novo",,"splicing defect","F","33","50""BPAN","c.439+2T>G",,"de novo",,"splicing defect","F","24","128""BPAN","c.447_448del",,"de novo",,"nonsense","F","8","129""BPAN","c.447_448del",,"de novo",,"nonsense","F","8","129""BPAN","c.476del",,"de novo",,"frameshift","F","43","49""BPAN","c.488del",,"de novo",,"frameshift","F","25","130""BPAN","c.511C>T",,"de novo",,"nonsense","F","5","54""BPAN","c.516G>C",,"de novo",,"frameshift","F","28","50""BPAN","c.519+1_519+3del",,"de novo*",,"splicing defect","F","31","131""BPAN","c.519+1G>A",,"de novo",,"splicing defect","F","1","132""BPAN","c.551del",,"de novo",,"frameshift","F","14","133""BPAN","c.587_588del",,"de novo",,"frameshift","F","33","120""BPAN","c.587_588del",,"de novo",,"frameshift","F","37","120""BPAN","c.597_598del",,"de novo",,"frameshift","F","34","134""BPAN","c.597_598del",,"de novo",,"frameshift","M","1","54""BPAN","c.606C>G",,"de novo",,"missense","F","37","135""BPAN","c.626C>A",,"de novo*",,"frameshift","F","30","136""BPAN","c.628T>C",,"de novo",,"missense","F","33","120""BPAN","c.637C>T",,"unknown",,"nonsense","F","51","50""BPAN","c.654del",,"de novo",,"frameshift","F","13","54""BPAN","c.662_663del",,"de novo",,"nonsense","F","33","137""BPAN","c.694_703del",,"de novo",,"frameshift","F","44","49""BPAN","c.700C>T",,"de novo",,"nonsense","F","39","49""BPAN","c.700C>T",,"de novo",,"nonsense","F","40","138""BPAN","c.729-2C>G",,"de novo",,"splicing defect","F","22","128""BPAN","c.752_754del",,"unknown",,"deletion","F","52","137""BPAN","c.830+1G>A",,"unknown",,"nonsense","F","5","60""BPAN","c.830+1G>A",,"de novo",,"nonsense","F","6","60""BPAN","c.830+1G>A",,"de novo",,"nonsense","F","11","139""BPAN","c.830+1G>A",,"de novo",,"nonsense","F","37","49""BPAN","c.830+2T>C",,"de novo",,"splicing defect","F","27","46""BPAN","c.831-1G>C",,"de novo",,"splicing defect","F","13","54""BPAN","c.865C>T",,"unknown",,"nonsense","F","13","140""BPAN","c.873C>G",,"de novo",,"nonsense","M","34","58""BPAN","c.921del",,"de novo",,"frameshift","F","6","78""BPAN","c.969_970insT",,"de novo",,"frameshift","F","30","78, 120""BPAN","c.970_971del",,"de novo",,"frameshift","F","4","54, 120""BPAN","c.1007_1008del",,"de novo",,"nonsense","F","23","49, 54""BPAN","c.1007_1008del",,"de novo",,"frameshift","F","24","49""BPAN","c.1007_1008del",,"de novo",,"frameshift","F","33","49, 51""BPAN","c.1025_1034del",,"de novo",,"frameshift","M","31","49, 51""BPAN","c.1030del",,"de novo",,"frameshift","F","42","49, 137""BPAN","c.1033_1034dupAA",,"de novo",,"frameshift","F","33","50, 137""BPAN","c.1040_1041del",,"de novo",,"frameshift","F","3","50, 141""BPAN","c.1056C>G",,"unknown",,"nonsense","F","9","141, 142""BPAN (DEE)","c.614G>A",,"unknown",,"missense","F","3","60, 72""BPAN (DEE)","c.831-1G>C",,"de novo",,"splicing defect","F","3","53""BPAN (RLS)","c.761_762insAG",,"unknown",,"nonsense","F","16","60""BPAN (RLS)","c.830+1G>A",,"de novo",,"nonsense","F","14","63""BPAN (RLS)","c.830+2T>C",,"unknown",,"splicing defect","F","42","61""BPAN (RLS)","c.868C>T",,"de novo",,"nonsense","F","6","62""DEE","c.19C>T",,"de novo",,"nonsense","F","3","143""DEE","c.197T>A",,"unknown",,"missense","M","10","74""DEE","c.400C>T",,"de novo",,"nonsense","F","6","141""DEE","c.401G > C",,"de novo",,"missense","F","2","143""DEE","c.454del",,"de novo",,"splicing defect","F","7","72""DEE","c.503G > A",,"de novo",,"missense","F","5","143""DEE","c.629del",,"de novo",,"frameshift","F","8","72""DEE","c.660del",,"de novo",,"frameshift","F","2","72""DEE","c.700C>T",,"de novo",,"nonsense","F","2","143""DEE","c.700C>T",,"de novo",,"nonsense","F","11","72""DEE","c.726C>G",,"de novo",,"nonsense","F","4","72""DEE","c.752_754del",,"de novo",,"deletion","M","17","145""DEE","c.795delT",,"de novo",,"missense","F","7","146""DEE","c.830+1G>A",,"de novo",,"nonsense","M","4","147""DEE","c.912del",,"de novo",,"frameshift","F","1","143""DEE","c.1007_1008del",,"de novo",,"nonsense","M","2","148""DEE","c.1007_1008del",,"de novo",,"nonsense","F","7","72""EOEE","chrX:48,809,279-48,829,265del",,"de novo",,"deletion","M","3 mo","56""EOEE","c.251del",,"de novo",,"missense","F","8","78""EOEE","c.344+1G>A",,"de novo",,"splicing defect","F","2","78""EOEE","c.479T>G",,"de novo",,"missense","F","13","78""ID","c.19C>T",,"de novo",,"nonsense","F","3","67""ID","c.777del",,"de novo",,"frameshift","F","29","71""RLS","c.235+1G>T",,"de novo",,"splicing defect","F","22","65""RLS","c.319_320del",,"unknown",,"frameshift","F","6","64""RLS","c.440-2A>G",,"de novo",,"splicing defect","F","5","55""West syndrome","c.131-1G>A",,"de novo",,"splicing defect","M","1","85""West syndrome","c.248G>A",,"de novo",,"nonsense","M","2","85""West syndrome","c.400C>T",,"inherited",,"nonsense","M","7","85""unclassified","c.2T>A",,"",,"","","","""unclassified","c.19C>T",,"inherited",,"nonsense","M","N.A.","45""unclassified","c.52C>T",,"de novo",,"nonsense","F","N.A.","45""unclassified","chrX:48934349A>G",,"de novo",,"missense","F","N.A.","45""unclassified","c.412G>T",,"de novo",,"nonsense","F","N.A.","45""unclassified","c.442_446del",,"inherited",,"nonsense","M","N.A.","45""unclassified","c.519+2T>C",,"de novo",,"splicing defect","F","N.A.","45""unclassified","c.587-588del",,"de novo",,"frameshift","F","11","149""unclassified","c.700C>T",,"de novo",,"nonsense","F","N.A.","45""unclassified","c.718dupA",,"de novo",,"nonsense","F","N.A.","45""unclassified","c.728+2T>A",,"de novo",,"splicing defect","F","N.A.","45""unclassified","c.729-1G>A",,"de novo",,"splicing defect","F","N.A.","45""unclassified","c.729-1G>A",,"inherited",,"splicing defect","M","N.A.","45""unclassified","c.830+1G>A",,"inherited",,"nonsense","M","N.A.","45""unclassified","c.830+1G>A",,"de novo",,"nonsense","F","N.A.","45""unclassified","c.944_953del",,"de novo",,"nonsense","F","N.A.","45""unclassified","c.1020_1023del",,"de novo",,"frameshift","F","N.A.","45"
Sex Method of molecular diagnosis DNA change Amino Acid change Source1 Male Whole Exome Sequencing c.830+1G>A IVS10+1G>A in intron 102 * Female Whole Genome Sequencing c.1020_1023delTGAT p.Asp341Glufsext693 Female Whole Genome Sequencing c.700C>T p.Arg234Ter4 * Female Targeted c.519+2 T>C5 Female UK chrX:48934349 A>G p.Phe100Ser6 * Female Whole Genome Sequencing c.728+2T>A7 Female Whole Exome Sequencing c.729-1G>A IV59-1G>A8 Male UK c.19C>T p.Arg7*9 * Female UK c.2T>A10 * Male UK c.442_446delCTCTG p.Leu148*11 Male UK 19.9-kb Deletion in Xp11.23 26173968912 * Female UK c.944_953del p.Arg31513 Female UK c.830+1G>A14 * Female UK c.412G>T15 * Male Whole Genome Sequencing c.14_20dupCACTTCG p.Gly8ThrfsTer6516 * Female Whole Exome Sequencing c.52C>T p.Gln18Ter17 * Female Whole Exome Sequencing c.718dupA p.T240Nfs*618 * Male Targeted c.729-1G>A19 Female UK c.868C>T p.Gln290Ter 316328582020 Female Targeted chrX:g.48,930,034_ 48,935,858del (hg19) deletion 315368312121 Female Targeted c.830 +1G>A fs premature termination codon at position 278 315056882222 Male Whole Exome Sequencing c.197 T > A p.V66E 314660102323 Female Whole Exome Sequencing c.1040_1041del p.Glu347GlyfsTer7 *24, 313329602524 Female Targeted c.761_762insAG p.Cys254Ter 312938962625 Female Targeted c.614G > A p.Gly205Asp 31293896 26, 291710131326 Female Targeted c.830+1G > A 312938962627 Female Targeted c.299T>C p.Phe100Ser 312938962628 Female Whole Exome Sequencing c.830+1G > C 312938962629 Female UK c.629delG p.Ser210X 291710131330 Female UK c.1007_1008del p.Tyr336CysfsX5 291710131331 Female UK c.700C>T p.Arg234X 291710131332 Female UK c.627del p.Ser210GlnfsX78 291710131333 Female UK c.454delT p.Cys152AlafsX9 291710131334 Female UK c.726C>G p.Tyr242X 291710131335 Female UK c.921delA p.Ala308Leufs*22 307464162736 Female Targeted c.479T>G p.Leu160Arg 307464162737 Female Targeted c.251delA p.Asp84Alafs*34 307464162738 Female Targeted c.344 + 1G>A 3074641627c.100G>A p.Val34Met39 Male Whole Exome Sequencing c.873C>G p.Tyr291* 306122472840 Male UK c.977 1 C>T 291710131341 Female UK c.439+2T>G 304551562942 Female UK c.411dupT (c.412insT) p.Glu138* 304551562943 Female UK c.729-2 A>G 304551562944 Female UK UK UK 303412753045 Female UK c.19C > T p.Arg7* 299818523146 Female UK c.401G > C p.Arg134Pro 299818523147 Female UK c.700C > T p.Arg234* 299818523148 Female UK c.503G > A p.Gly168Glu 299818523149 Female UK c.912delT p.Ala305Leufs*25 299818523150 Female Whole Exome Sequencing c.1007_1008del p.Tyr336Cysfs ∗5 23176820451 Female Whole Exome Sequencing c.38G>C p.Arg13Pro 23176820452 Female Whole Exome Sequencing c.-1_5del p.Met1? 23176820453 Female Whole Exome Sequencing c.293T>C p.Leu98Pro 23176820454 Female Whole Exome Sequencing c.476del p.Leu159Argfs ∗2 23176820455 Female Whole Exome Sequencing c.19C>T p.Arg7 ∗ 23176820456 Female Whole Exome Sequencing c.56-1G>A splicing defect 23176820457 Female Whole Exome Sequencing c.700C>T p.Arg234 ∗ 23176820458 Female Whole Exome Sequencing c.400C>T p.Arg134 ∗ 23176820459 Male Whole Exome Sequencing c.228_229del p.Glu76Aspfs ∗38 23176820460 Female Whole Exome Sequencing c.405_409del p.Lys135Asnfs ∗2 23176820461 Female Whole Exome Sequencing c.359dup p.Lys121Glufs ∗18 23176820462 Female Whole Exome Sequencing c.830+1G>A splicing defect 23176820463 Male Whole Exome Sequencing c.19dup p.Arg7Profs ∗64 23176820464 Female Whole Exome Sequencing c.235+1G>A splicing defect 23176820465 Female Whole Exome Sequencing c.1007_1008del p.Tyr336Cysfs ∗5 23176820466 Female Whole Exome Sequencing c.694_703del p.Leu232Alafs ∗53 23176820467 Female Whole Exome Sequencing c.183C>A p.Asn61Lys 23176820468 Male Whole Exome Sequencing c.1025_1034del insACATATTT p.Gly342Aspfs ∗12 23176820469 Female Whole Exome Sequencing c.55+1G>C splicing defect 23176820470 Female Whole Exome Sequencing c.C19T p.Arg7* 253568993271 Female Targeted c.319_320delCT p.Leu107Phefs*7 296002743372 Female Targeted c.20G>A p.Arg7Gln 296002743373 Female Targeted c.64DeIT p.Cys22Alafs*16 288787283474 Male Whole Exome Sequencing c.131-1G>A 270301461575 Male Whole Exome Sequencing c.248G>A p.Trp83 270301461576 Male Whole Exome Sequencing c.400C>T p.Arg134 270301461577 Female Whole Exome Sequencing c.400C>T p.Arg134 270301461578 Male Whole Exome Sequencing c.161_163delTGG p.Val54del 265770413579 Female Whole Exome Sequencing c.161_163delTGG p.Val54del 265770413580 Female Targeted c.235+1G>T Splice site 296824533681 Female Whole Exome Sequencing c.236-18A>G intronic 296811083782 Female UK c.251A>G p.Asp84Gly 26240209783 Female UK c.969_970insT p.V324CfsX18 257446233884 Female UK c.587_588delTA p.I196SfsX26 257446233885 Female UK c.414_419delGTTGA p.E138_F139del 257446233886 Female UK c.628T>C p.S210P 257446233887 Female UK c.400C>T p.R134X 257446233888 Female UK c.587_588delT p.I196SfsX26 257446233889 Female UK c.293T>C p.L98P 257446233890 Female UK c.322del p.Ser108Leufs*10 250446553991 Female Whole Exome Sequencing c.342-2A>C splice site 246102551992 Female Targeted c.345-1G>A r.345_439del 260224634093 Female Targeted c.400G > A p.R134Ter 268598184194 Female Whole Exome Sequencing c.400C>T p.R134X 266097304295 Female Whole Exome Sequencing c.439+1G>T p.Gly147Val; Val147_Leu148ins8 234350868, 233901214396 Female Whole Exome Sequencing c.516G>C p.Asp174Valfs*29 23435086897 Female Whole Exome Sequencing c.437dupA p.Leu148Alafs*3 234350868, 228921894498 Female Whole Exome Sequencing c.637C>T p.Gln213* 23435086899 Female Whole Exome Sequencing c.1033_1034dupAA p.Asn345Lysfs*67 234350868100 Female Targeted c.440-2 A > G splice site 2679096045101 Female Targeted c.447_448del p.Cys149* 2836125546102 Female Targeted c.447_448del p.Cys149* 2836125546103 Female UK c.488del C p.Pro163Argfs*34 2530122746104 Female UK c.51911_51913del splice site 2479080247105 Female Whole Exome Sequencing c.551delC p.S184LfsX13 2513162248106 Female Targeted c.597_598 p.Leuo201Lysfs*21 2795754849107 Female UK c.626C > A p.Ala209Asp 2559241150108 Female UK c.662_663del p.Phe221* 2436817651109 Female Targeted c.752_754del p.Ser251del 2436817651110 Female Whole Exome Sequencing c.1030del p.Cys344fs 2436817651111 Female Whole Exome Sequencing c.700 C>T p.Arg 234* 2893239552112 Male Whole Exome Sequencing c.752_754delCCT p.Ser251del 2837132053113 Female Whole Exome Sequencing p.T260Lfs*27 2715902854114 Female Whole Exome Sequencing c.795delT 2907562214115 Female Whole Exome Sequencing c.830+1G>A Splice site 2462158455116 Male Whole Exome Sequencing c.830+1G > A splice site 2871174056117 Female UK c.830 + 2 T > C splice site 2734908557118 Female Whole Exome Sequencing c.831‐1G>C splice site 2648185217119 Female Whole Exome Sequencing c.C868T p.Q290X 2526306158120 Male Whole Exome Sequencing c.1007_1008delAT p.Tyr336Cys*5 2768147059121 Female Whole Exome Sequencing c.1007_1008del p.Y336Cfs*5 2944547760122 Female Targeted c.1056C>G p.Tyr352* 3071389361123 Female Targeted heterozygous deletion of WDR45 gene 2908210562