Structural eye disease
Gene: IDH3B

IDH3B (isocitrate dehydrogenase 3 (NAD(+)) beta)
EnsemblGeneIds (GRCh38): ENSG00000101365
EnsemblGeneIds (GRCh37): ENSG00000101365
OMIM: 604526, Gene2Phenotype
IDH3B is in 6 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 46; 612572

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 46, 612572

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinitis pigmentosa 46, 612572
Eye Disorders

OMIM

604526

Clinvar variants

Variants in IDH3B

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IDH3B. Mode of inheritance for gene IDH3B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 46, 612572 for gene: IDH3B

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: IDH3B was added gene: IDH3B was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: IDH3B was set to Phenotypes for gene: IDH3B were set to Eye Disorders

Structural eye disease Gene: IDH3B