ETFA

electron transfer flavoprotein alpha subunit
OMIM: 608053
PanelMode of inheritanceDetails
6 panels
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIA, OMIM:231680, multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARIC ACIDURIA TYPE 2A 231680
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARIC ACIDURIA TYPE 2A
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARIC ACIDURIA TYPE 2A
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation), Glutaric acidemia IIA
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIA 231680