SDHAF1

succinate dehydrogenase complex assembly factor 1
OMIM: 612848
PanelMode of inheritanceDetails
8 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL COMPLEX II DEFICIENCY 252011
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Diseases, Mitochondrial complex II deficiency, 252011, Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Mitochondrial Respiratory Chain Complex II Deficiency, Isolated complex II deficiency
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL COMPLEX II DEFICIENCY
R-numbers: R354
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex II deficiency, 252011
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex II deficiency 252011