Genomics England
GMS Panels
Panels
Genes and Entities

ETFA

electron transfer flavoprotein alpha subunit
OMIM: 608053
PanelMode of inheritanceDetails
6 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIA, OMIM:231680
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARIC ACIDURIA TYPE 2A
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation), Glutaric acidemia IIA
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARIC ACIDURIA TYPE 2A
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIA 231680