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Retinal disorders

Gene: IDH3A

Green List (high evidence)

IDH3A (isocitrate dehydrogenase 3 (NAD(+)) alpha)
EnsemblGeneIds (GRCh38): ENSG00000166411
EnsemblGeneIds (GRCh37): ENSG00000166411
OMIM: 601149, Gene2Phenotype
IDH3A is in 3 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 28412069 reported on 7 individuals from 4 unrelated familes (Netherlands, Israel and South Africa) diagnosed have retinitis pigmentosa who have compound heterozygous/homozygous variants in IDHA3. PMID: 30478029 reported on a Idha3 mouse model that develops retinal degeneration. Therefore, there is enough evidence to promote this gene to green status.
Sources: Expert list
Created: 2 Aug 2019, 1:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis Pigmentosa; Pseudocoloboma

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinitis Pigmentosa
  • Pseudocoloboma
OMIM
601149
Clinvar variants
Variants in IDH3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: idh3a has been classified as Green List (High Evidence).

2 Aug 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: IDH3A was added gene: IDH3A was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDH3A were set to 28412069; 30478029 Phenotypes for gene: IDH3A were set to Retinitis Pigmentosa; Pseudocoloboma Review for gene: IDH3A was set to GREEN