Newborns main panel
Gene: ETFB

ETFB (electron transfer flavoprotein beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000105379
EnsemblGeneIds (GRCh37): ENSG00000105379
OMIM: 130410, Gene2Phenotype
ETFB is in 13 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

Moderate on clingen. PMID: 18289905 (3 families), PMID: 12815589 (3 cases) PMID: 16510302 (2 cases)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Glutaric acidaemia type IIB

OMIM

130410

Clinvar variants

Variants in ETFB

Penetrance

None

Panels with this gene

History Filter Activity

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ETFB were changed from Glutaric acidaemia IIB to Glutaric acidaemia type IIB

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB to Glutaric acidaemia IIB

14 Sep 2023, Gel status: 3