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Inborn errors of metabolism

Gene: IDH3B

Red List (low evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019, and the decision was made to make this gene Amber.
Created: 25 Feb 2019, 5:26 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Only two families reported, and phenotype has been restricted to retinitis pigmentosa, so probably Red/Amber.
Created: 30 Aug 2018, 5:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 46, MIM#612572

Publications

Details

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: IDH3B was added gene: IDH3B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: IDH3B was set to Unknown