Full data view for gene HADHA

Information The variants shown are described using the NM_000182.4 transcript reference sequence.

298 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_5i c.-4259_453+337del r.0? p.0? Parent #2 - pathogenic (recessive) g.26456748_26471723del g.26233880_26248855del hg38 - HADHA_000063 - PubMed: Bo 2017 - - Germline - - - - - DNA SEQ - - MTPD Pat3 PubMed: Bo 2017 - M - Japan - 13d - - - 1 Johan den Dunnen
-?/. - c.-1G>T r.(?) p.(=) Unknown - likely benign g.26467465C>A g.26244597C>A HADHA(NM_000182.5):c.-1G>T - HADHA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-10T>G r.(=) p.(=) Unknown - likely benign g.26462021A>C - HADHA(NM_000182.5):c.68-10T>G - HADHA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.78C>A r.(?) p.(Cys26*) Parent #1 - pathogenic (recessive) g.26462001G>T g.26239133G>T Y-13ter - HADHA_000055 combination of variants not reported PubMed: Spiekerkoetter 2004 - - Germline - - - - - DNA SEQ - - MTPD patient PubMed: Spiekerkoetter 2004 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.109+4A>C r.spl? p.? Unknown - likely benign g.26461966T>G - HADHA(NM_000182.5):c.109+4A>C - HADHA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.138dup r.(?) p.(Gly47ArgfsTer9) Parent #1 - pathogenic (recessive) g.26461846dup g.26238978dup - - HADHA_000103 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat1 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.157C>T r.(?) p.(Arg53Ter) Parent #2 - pathogenic (recessive) g.26461825G>A g.26238957G>A - - HADHA_000102 - PubMed: Sperk 2010 - - Germline - - - - - DNA SEQ - - ? Pat4 PubMed: Sperk 2010 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.157C>T r.(?) p.(Arg53Ter) Parent #1 - pathogenic (recessive) g.26461825G>A g.26238957G>A - - HADHA_000102 - PubMed: Bo 2017 - - Germline - - - - - DNA SEQ - - MTPD Pat3 PubMed: Bo 2017 - M - Japan - 13d - - - 1 Johan den Dunnen
+/. - c.180_180+5delinsAT r,spl p.? Parent #1 - pathogenic (recessive) g.26461797_26461802delinsAT g.26238929_26238934delinsAT - - HADHA_000101 - PubMed: Grunert 2021 - - Germline - - - - - DNA SEQ - - ? Pat10 PubMed: Grunert 2021 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.180_180+5delinsAT r.spl (p.(Val61CysfsTer6) Parent #1 - pathogenic (recessive) g.26461797_26461802delinsAT g.26238929_26238934delinsAT 180_180+5delGGTATCinsAT - HADHA_000101 no variant 2nd chromosome PubMed: Diebold 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat7 PubMed: Diebold 2019 phenotype-based NGS screening 403 individuals - - Germany - - - - - 1 Johan den Dunnen
+/. - c.180+1G>A r.110_180del p.Thr37SerfsTer2 Paternal (confirmed) - pathogenic (recessive) g.26461801C>T g.26238933C>T - - HADHA_000045 - PubMed: Brackett 1995, PubMed: Ushikubo 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD patient;Pat2 PubMed: Brackett 1995, PubMed: Ushikubo 1996 - - - United States - - - - - 1 Johan den Dunnen
+/. 3i c.180+1G>A r.spl p.? Paternal (inferred) - pathogenic (recessive) g.26461801C>T g.26238933C>T IVS3G+1A - HADHA_000045 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat20 PubMed: Ibdah 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.180+3A>G r.110_180del p.Thr37SerfsTer2 Maternal (confirmed) - pathogenic (recessive) g.26461799T>C g.26238931T>C - - HADHA_000046 - PubMed: Brackett 1995, PubMed: Ushikubo 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD patient;Pat2 PubMed: Brackett 1995, PubMed: Ushikubo 1996 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.180+3A>G r.spl p.? Parent #1 - pathogenic (recessive) g.26461799T>C g.26238931T>C - - HADHA_000046 - PubMed: Liewluck 2013 - - Germline - - - - - DNA SEQ - - MTPD patient PubMed: Liewluck 2013 - M - United States - - - - - 1 Johan den Dunnen
+/. 3i c.180+3A>G r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.26461799T>C g.26238931T>C IVS3A+3G - HADHA_000046 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat20 PubMed: Ibdah 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.180+3A>G r.spl p.? Parent #1 - pathogenic (recessive) g.26461799T>C g.26238931T>C - - HADHA_000046 - PubMed: Diebold 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat1 PubMed: Diebold 2019 phenotype-based NGS screening 403 individuals - - Germany - - - - - 1 Johan den Dunnen
+/. - c.180+3_180+6del r.spl p.? Parent #1 - pathogenic (recessive) g.26461797_26461800del g.26238929_26238932del 180+2_180+5delTATC - HADHA_000100 - PubMed: Grunert 2021 - - Germline - - - - - DNA SEQ - - ? Pat12 PubMed: Grunert 2021 patient F - Germany - - - - - 1 Johan den Dunnen
+/. - c.274_278del r.(?) p.(Ser92LysfsTer10) Both (homozygous) - pathogenic (recessive) g.26459762_26459766del g.26236894_26236898del - - HADHA_000099 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat2 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.274_278del r.(?) p.(Ser92LysfsTer10) Parent #1 - pathogenic (recessive) g.26459762_26459766del g.26236894_26236898del - - HADHA_000099 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat3 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.274_278del r.(?) p.(Ser92LysfsTer10) Parent #1 - pathogenic (recessive) g.26459762_26459766del g.26236894_26236898del - - HADHA_000099 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat4 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.274_278del r.(?) p.(Ser92LysfsTer10) Parent #1 - pathogenic (recessive) g.26459762_26459766del g.26236894_26236898del - - HADHA_000099 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat5 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.274_278del r.(?) p.(Ser92LysfsTer10) Parent #1 - pathogenic (recessive) g.26459762_26459766del g.26236894_26236898del - - HADHA_000099 - PubMed: Grunert 2021 - - Germline - - - - - DNA SEQ - - ? Pat14 PubMed: Grunert 2021 patient F - Germany - - - - - 1 Johan den Dunnen
+/. 4 c.274_278del r.(?) p.(Ser92LysfsTer10) Paternal (inferred) - pathogenic (recessive) g.26459762_26459766del g.26236894_26236898del Asp67Ter (del271-275) - HADHA_000099 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat9;Pat(4/8) PubMed: Ibdah 1999, PubMed: Gillingham 2005 - F - United States - - - - - 1 Johan den Dunnen
+/. 4 c.274_278del r.(?) p.(Ser92LysfsTer10) Maternal (confirmed) - pathogenic (recessive) g.26459762_26459766del g.26236894_26236898del Asp67Ter (del271-275) - HADHA_000099 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat10;Pat(4/8) PubMed: Ibdah 1999, PubMed: Gillingham 2005 - F - United States - - - - - 1 Johan den Dunnen
+/. 4i c.315-2A>T r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.26457225T>A g.26234357T>A IVS4A-2T - HADHA_000098 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat11 PubMed: Ibdah 1999 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.316A>G r.(?) p.(Met106Val) Unknown - VUS g.26457222T>C g.26234354T>C HADHA(NM_000182.5):c.316A>G (p.(Met106Val), p.M106V) - HADHA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316A>G r.(?) p.(Met106Val) Unknown - VUS g.26457222T>C - HADHA(NM_000182.5):c.316A>G (p.(Met106Val), p.M106V) - HADHA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.361C>T r.(?) p.(Gln121Ter) Parent #1 - pathogenic (recessive) g.26457177G>A g.26234309G>A - - HADHA_000097 - PubMed: Bo 2017 - - Germline - - - - - DNA SEQ - - MTPD Pat2 PubMed: Bo 2017 - F - Japan - 44d - - - 1 Johan den Dunnen
+/. - c.389T>C r.(?) p.(Leu130Pro) Maternal (confirmed) - pathogenic (recessive) g.26457149A>G g.26234281A>G L94P - HADHA_000056 - PubMed: Spiekerkoetter 2002 - - Germline - - - - - DNA SEQ - - ? PatB PubMed: Spiekerkoetter 2002 mother pregnancy HELLP syndrome - - United States Bengali - - - - 1 Johan den Dunnen
+/. - c.389T>C r.(?) p.(Leu130Pro) Maternal (confirmed) - pathogenic (recessive) g.26457149A>G g.26234281A>G - - HADHA_000056 - PubMed: Spiekerkoetter 2002 - - Uniparental disomy, maternal allele - - - - - DNA SEQ - - ? PatB PubMed: Spiekerkoetter 2002 mother pregnancy HELLP syndrome - - United States Bengali - - - - 1 Johan den Dunnen
-?/. 4 c.414G>A r.(=) p.(=) Unknown - likely benign g.26457124C>T g.26234256C>T Val138Val - HADHA_000002 - PubMed: Gilissen 2014 - - De novo ? - - - - DNA SEQ - - ID - PubMed: Gilissen 2014 - ? ? - - - - - - 1 Marianne Vos (LOVD-team)
+/. - c.442G>A r.(?) p.(Gly148Arg) Both (homozygous) - pathogenic (recessive) g.26457096C>T g.26234228C>T - - HADHA_000096 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat6 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.446G>T r.(?) p.(Gly149Val) Paternal (confirmed) - pathogenic (recessive) g.26457092C>A g.26234224C>A - - HADHA_000061 - PubMed: Bursle 2018 - - Germline yes - - - - DNA SEQ-NG - WES CM patient PubMed: Bursle 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Australia - - - - - 2 Johan den Dunnen
+?/. - c.453+1G>T r.spl p.? Parent #1 - likely pathogenic (recessive) g.26457084C>A g.26234216C>A - - HADHA_000095 - PubMed: Diebold 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat2 PubMed: Diebold 2019 phenotype-based NGS screening 403 individuals - - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.479_482delinsAATA r.(?) p.(Ile160delinsLysTer) Maternal (confirmed) - pathogenic (recessive) g.26455119_26455122delinsTATT g.26232251_26232254delinsTATT Ala125Ter (TACC479-482AATA) - HADHA_000094 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat12 PubMed: Ibdah 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.556C>G r.(?) p.(Gln186Glu) Parent #1 - pathogenic (recessive) g.26455045G>C g.26232177G>C 546C>G - HADHA_000093 - PubMed: Diekman 2014 - - Germline - - - - - DNA SEQ - - ? Pat19 PubMed: Diekman 2014 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.556C>G r.(?) p.(Gln186Glu) Parent #1 - pathogenic (recessive) g.26455045G>C g.26232177G>C 546C>G - HADHA_000093 - PubMed: Diekman 2014 - - Germline - - - - - DNA SEQ - - ? Pat20 PubMed: Diekman 2014 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.574-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.26453164T>C g.26230296T>C IVS6-2A>G - HADHA_000050 - PubMed: Spiekerkoetter 2004 - - Germline - - - - - DNA SEQ - - MTPD Pat1 PubMed: Spiekerkoetter 2004 - - - - - - - - - 1 Johan den Dunnen
+/. 6i c.574-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.26453164T>C g.26230296T>C IVS6A-2G - HADHA_000050 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat21 PubMed: Ibdah 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.602T>C r.(?) p.(Met201Thr) Both (homozygous) - pathogenic (recessive) g.26453134A>G g.26230266A>G - - HADHA_000092 - PubMed: Grunert 2021 - - Germline - - - - - DNA SEQ - - ? Pat9 PubMed: Grunert 2021 patient F - Germany - - - - - 1 Johan den Dunnen
?/. - c.652G>C r.(?) p.(Val218Leu) Unknown - VUS g.26453084C>G g.26230216C>G - - HADHA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.676+2T>C r.[574_676del,=] p.[Val192AspfsTer4,=] Both (homozygous) - pathogenic (recessive) g.26453058A>G g.26230190A>G - - HADHA_000091 - PubMed: Boutron 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD Pat7 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
?/. - c.677G>A r.(?) p.(Gly226Glu) Unknown - VUS g.26438044C>T - HADHA(NM_000182.5):c.677G>A (p.G226E) - HADHA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.703C>T r.(?) p.(Arg235Trp) Paternal (confirmed) - pathogenic (recessive) g.26438018G>A g.26215149G>A - - HADHA_000047 - PubMed: Yang 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - wes MTPD FamPatII2 PubMed: Yang 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F - China - 03y - - - 2 Johan den Dunnen
+/. - c.703C>T r.(?) p.(Arg235Trp) Paternal (confirmed) - pathogenic (recessive) g.26438018G>A - - - HADHA_000047 - PubMed: Yang 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MTPD FamPatII3 PubMed: Yang 2022 brother M - China - 00y07m - - - 1 Johan den Dunnen
+/. - c.703C>T r.(?) p.(Arg235Trp) Both (homozygous) - pathogenic (recessive) g.26438018G>A g.26215149G>A - - HADHA_000047 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat8 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.703C>T r.(?) p.(Arg235Trp) Both (homozygous) - pathogenic (recessive) g.26438018G>A g.26215149G>A - - HADHA_000047 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat9 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.703C>T r.(?) p.(Arg235Trp) Parent #1 - pathogenic (recessive) g.26438018G>A g.26215149G>A - - HADHA_000047 - PubMed: Grunert 2021 - - Germline - - - - - DNA SEQ - - ? Pat15 PubMed: Grunert 2021 patient F - Germany - - - - - 1 Johan den Dunnen
+/. - c.703C>T r.703c>u p.Arg235Trp Both (homozygous) - pathogenic (recessive) g.26438018G>A g.26215149G>A - - HADHA_000047 - PubMed: Scheuerman 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD patient PubMed: Scheuerman 2009 - F - Israel - 01y04m - - - 1 Johan den Dunnen
+/. - c.703_704dup r.(?) p.(Thr236Glyfs*3) Maternal (confirmed) ACMG pathogenic (recessive) g.26438017_26438018dup g.26215148_26215149dup 703_704dupCG - HADHA_000049 ACMG PVS1, PM2, PM3 PubMed: Chen 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MTPD patient PubMed: Zhang 2023, PubMed: Chen 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. 9 c.788A>G r.(?) p.(Asp263Gly) Parent #2 - pathogenic (recessive) g.26502160A>G g.26279292A>G - - HADHB_000026 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat46 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.845T>A r.845u>a p.Val282Asp Both (homozygous) - pathogenic (recessive) g.26437385A>T g.26214516A>T - - HADHA_000040 - PubMed: Ibdah 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD PatA;Pat10 PubMed: Ibdah 1998, PubMed: Spiekerkoetter 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. 9 c.845T>A r.(?) p.(Val282Asp) Both (homozygous) - pathogenic (recessive) g.26437385A>T g.26214516A>T Val246Asp - HADHA_000040 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat23 PubMed: Ibdah 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.859del r.(?) p.(Glu287LysfsTer16) Parent #1 - pathogenic (recessive) g.26437372del g.26214503del - - HADHA_000090 no variant 2nd chromosome PubMed: Diebold 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat4 PubMed: Diebold 2019 phenotype-based NGS screening 403 individuals - - Germany - - - - - 1 Johan den Dunnen
+/. - c.871C>T r.0 p.0 Parent #2 - pathogenic (recessive) g.26437359G>A g.26214490G>A - - HADHA_000042 mRNA r.871c>u (Arg291*) allele not detectable PubMed: Ibdah 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD PatB;Pat9 PubMed: Ibdah 1998, PubMed: Spiekerkoetter 2004 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.871C>T r.(?) p.(Arg291*) Both (homozygous) - pathogenic (recessive) g.26437359G>A g.26214490G>A R256X - HADHA_000042 - PubMed: Spiekerkoetter 2008 - - Germline - - - - - DNA SEQ - - MTPD patient PubMed: Spiekerkoetter 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Jordan - 00y00m03d - - - 1 Johan den Dunnen
+/. 9 c.871C>T r.(?) p.(Arg291Ter) Paternal (inferred) - pathogenic (recessive) g.26437359G>A g.26214490G>A Arg255Ter - HADHA_000042 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat13 PubMed: Ibdah 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.914T>A r.914u>a p.Ile305Asn Parent #1 - pathogenic (recessive) g.26437316A>T g.26214447A>T - - HADHA_000041 - PubMed: Ibdah 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD PatB;Pat9 PubMed: Ibdah 1998, PubMed: Spiekerkoetter 2004 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.914T>A r.(?) p.(Ile305Asn) Parent #1 - pathogenic (recessive) g.26437316A>T g.26214447A>T - - HADHA_000041 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat10 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.914T>A r.(?) p.(Ile305Asn) Parent #2 - pathogenic (recessive) g.26437316A>T g.26214447A>T - - HADHA_000041 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat1 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 9 c.914T>A r.(?) p.(Ile305Asn) Maternal (confirmed) - pathogenic (recessive) g.26437316A>T g.26214447A>T Ile269Asn - HADHA_000041 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat24 PubMed: Ibdah 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.918+1G>A r.800_918del p.Lys267SerfsTer7 Parent #1 - pathogenic (recessive) g.26437311C>T g.26214442C>T - - HADHA_000089 - PubMed: Boutron 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD Pat11 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.918+6T>G r.800_918del p.Lys267SerfsTer7 Parent #1 - pathogenic (recessive) g.26437306A>C g.26214437A>C - - HADHA_000088 - PubMed: Boutron 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD Pat12 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.919-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.26435497T>C g.26212628T>C - - HADHA_000087 - PubMed: Vieira Neto 2024 - - Germline - - - - - DNA SEQ - - MTPD FB864 PubMed: Vieira Neto 2024 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.955G>A r.(?) p.(Gly319Ser) Both (homozygous) - pathogenic (recessive) g.26435459C>T g.26212590C>T - - HADHA_000030 - PubMed: Khani 2020 - rs752317877 Germline yes - - - - DNA SEQ-NG-I - WGS CMT2 FamCMT2-101PatII1 PubMed: Khani 2020 2-generation family, 2 affected (sister/brother), 3 unaffected heterozygous carrier parents/relatives F yes Iran - >29y - - - 2 Yvet den Hartog
+/. - c.955G>A r.(?) p.(Gly319Ser) Both (homozygous) - pathogenic (recessive) g.26435459C>T g.26212590C>T - - HADHA_000030 - PubMed: Khani 2020 - rs752317877 Germline yes - - - - DNA SEQ-NG-I - WGS CMT2 FamCMT2-101PatII3 PubMed: Khani 2020 brother M yes Iran - >24y - - - 1 Yvet den Hartog
?/. - c.955G>A r.(?) p.(Gly319Ser) Parent #2 - VUS g.26435459C>T g.26212590C>T - - HADHA_000030 - PubMed: Diebold 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat2 PubMed: Diebold 2019 phenotype-based NGS screening 403 individuals - - Germany - - - - - 1 Johan den Dunnen
+/. - c.965G>A r.(?) p.(Gly319Ser) Parent #2 - pathogenic (recessive) g.26435459C>T g.26212590C>T 995G>A - HADHA_000030 - PubMed: Grunert 2021 - - Germline - - - - - DNA SEQ - - ? Pat15 PubMed: Grunert 2021 patient F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1025T>C r.(?) p.(Leu342Pro) Parent #2 - pathogenic (recessive) g.26432709A>G g.26209840A>G T1025C - HADHA_000043 - PubMed: IJlst 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTPD Pat2 PubMed: IJlst 1997 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1025T>C r.(?) p.(Leu342Pro) Parent #1 - pathogenic (recessive) g.26432709A>G g.26209840A>G - - HADHA_000043 - PubMed: De Biase 2017 - - Germline - - - - - DNA SEQ - - MTPD Pat5 PubMed: De Biase 2017 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.1058_1059delinsT r.(?) p.(Lys353IlefsTer19) Parent #1 - pathogenic (recessive) g.26432675_26432676delinsA g.26209806_26209807delinsA - - HADHA_000086 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat13 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
?/. - c.1072C>A r.(?) p.(Gln358Lys) Unknown - VUS g.26432662G>T g.26209793G>T - - HADHA_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1072C>A r.(?) p.(Gln358Lys) Unknown - VUS g.26432662G>T g.26209793G>T - - HADHA_000001 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1072C>A r.(?) p.(Gln358Lys) Unknown - VUS g.26432662G>T g.26209793G>T - - HADHA_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1072C>A r.(?) p.(Gln358Lys) Unknown - VUS g.26432662G>T g.26209793G>T - - HADHA_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 12 c.1086-1_1091del r.spl p.(His363LeufsTer7) Paternal (inferred) - pathogenic (recessive) g.26427060_26427066del g.26204191_26204197del del-4-091 - HADHA_000085 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat15 PubMed: Ibdah 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1115A>T r.(?) p.(Asp372Val) Parent #2 - pathogenic (recessive) g.26507038A>T g.26284170A>T - - HADHA_000104 - PubMed: Grunert 2021 - - Germline - - - - - DNA SEQ - - ? Pat11 PubMed: Grunert 2021 patient M - Germany - - - - - 1 Johan den Dunnen
?/. - c.1129G>A r.(?) p.(Ala377Thr) Unknown - VUS g.26427022C>T g.26204153C>T HADHA(NM_000182.4):c.1129G>A (p.A377T) - HADHA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1132C>T r.(?) p.(Gln378*) Parent #2 - likely pathogenic g.26427019G>A g.26204150G>A - - HADHA_000027 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 494 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.1132C>T r.(?) p.(Gln378*) Paternal (confirmed) - pathogenic (recessive) g.26427019G>A g.26204150G>A (Q342Stop) - HADHA_000027 - PubMed: Sims 1995 - - Germline - - - - - DNA SEQ - - MTPD FamBPatII1 PubMed: Sims 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy) - - United States - - - - - 1 Johan den Dunnen
+/. 12 c.1132C>T r.(?) p.(Gln378Ter) Paternal (inferred) - pathogenic (recessive) g.26427019G>A g.26204150G>A Gln342Ter - HADHA_000027 - PubMed: Ibdah 1999 - - Germline - - - - - DNA SEQ - - LCHADD Pat14:Pat13 PubMed: Ibdah 1999, PubMed: Gillingham 2005 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1174G>A r.(?) p.(Ala392Thr) Unknown - likely benign g.26426977C>T g.26204108C>T HADHA(NM_000182.4):c.1174G>A (p.(Ala392Thr)) - HADHA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1191G>A r.(?) p.(Trp397Ter) Parent #2 - pathogenic (recessive) g.26507792G>A g.26284924G>A - - HADHA_000105 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat50 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1195C>T r.(?) p.(Arg399Ter) Parent #1 - pathogenic (recessive) g.26426956G>A g.26204087G>A - - HADHA_000084 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat14 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1195C>T r.(?) p.(Arg399Ter) Parent #1 - pathogenic (recessive) g.26426956G>A g.26204087G>A R363* - HADHA_000084 - PubMed: Grunert 2021 - - Germline - - - - - DNA SEQ - - ? Pat16 PubMed: Grunert 2021 patient M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.1212G>C r.(?) p.(Val404=) Unknown - likely benign g.26426939C>G g.26204070C>G HADHA(NM_000182.4):c.1212G>C (p.V404=) - HADHA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1212G>C r.(?) p.(Val404=) Unknown - likely benign g.26426939C>G - HADHA(NM_000182.4):c.1212G>C (p.V404=) - HADHA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1234G>Y r.(?) p.(Val412Leu) Parent #1 - pathogenic (recessive) g.26424176C>R g.26201307C>R V376L - HADHA_000054 combination of variants not reported PubMed: Spiekerkoetter 2004 - - Germline - - - - - DNA SEQ - - MTPD patient PubMed: Spiekerkoetter 2004 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1325A>T r.(?) p.(Asp442Val) Unknown - VUS g.26424085T>A - HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V) - HADHA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1325A>T r.(?) p.(Asp442Val) Unknown - VUS g.26424085T>A - HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V) - HADHA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1325A>T r.(?) p.(Asp442Val) Unknown - VUS g.26424085T>A - HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V) - HADHA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1336_1393del r.(?) p.(Glu446Ter) Parent #2 - pathogenic (recessive) g.26420646_26424074del g.26197777_26201205del 1336-1393del57nt - HADHA_000081 - PubMed: Diekman 2014 - - Germline - - - - - DNA SEQ - - ? Pat19 PubMed: Diekman 2014 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1336_1393del r.(?) p.(Glu446Ter) Parent #2 - pathogenic (recessive) g.26420646_26424074del g.26197777_26201205del 1336-1393del57nt - HADHA_000081 - PubMed: Diekman 2014 - - Germline - - - - - DNA SEQ - - ? Pat20 PubMed: Diekman 2014 - M - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.1343T>C r.(?) p.(Val448Ala) Unknown - VUS g.26424067A>G - HADHA(NM_000182.5):c.1343T>C (p.V448A) - HADHA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1381del r.(?) p.(Glu461LysfsTer2) Parent #1 - pathogenic (recessive) g.26424030del g.26201161del - - HADHA_000083 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat15 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1392+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.26424017C>T g.26201148C>T - - HADHA_000082 - PubMed: Bo 2017 - - Germline - - - - - DNA SEQ - - MTPD Pat1 PubMed: Bo 2017 - F - Japan - 6d - - - 1 Johan den Dunnen
-?/. - c.1392+8A>C r.(=) p.(=) Unknown - likely benign g.26424010T>G g.26201141T>G - - HADHA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1432G>C r.(?) p.(Ala478Pro) Parent #1 - pathogenic (recessive) g.26420607C>G g.26197738C>G - - HADHA_000080 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat16 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1433C>T r.(?) p.(Ala478Val) Parent #1 - pathogenic (recessive) g.26420606G>A g.26197737G>A - - HADHA_000079 - PubMed: Boutron 2011 - - Germline - - - - - DNA SEQ - - MTPD Pat17 PubMed: Boutron 2011 - - - France - - - - - 1 Johan den Dunnen
?/. - c.1465A>G r.(?) p.(Lys489Glu) Parent #1 - VUS g.26420574T>C g.26197705T>C - - HADHA_000024 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145422395 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
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