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Intellectual disability syndromic and non-syndromic

Gene: ETFA

Green List (high evidence)

ETFA (electron transfer flavoprotein alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000140374
EnsemblGeneIds (GRCh37): ENSG00000140374
OMIM: 608053, Gene2Phenotype
ETFA is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable phenotype but ID can be a feature particularly with early-onset disease.
Created: 1 Dec 2019, 10:37 p.m. | Last Modified: 1 Dec 2019, 10:37 p.m.
Panel Version: 0.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaric acidemia IIA, MIM#231680

History Filter Activity

3 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ETFA.

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: etfa has been classified as Green List (High Evidence).

1 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM#231680

1 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETFA was added gene: ETFA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ETFA was set to Unknown