Possible mitochondrial disorder - nuclear genes
Gene: IDH3B
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated families (2 sibs + 1 unrelated case) and functional studies; discussed & agreed that this should be included within 'primary mitochondrial disease'Created: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 46, 612572
Publications
Comment on list classification: It was agreed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019, that due to the organ-specific phenotype this gene should be Amber.Created: 5 Jun 2019, 1:21 p.m.
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, 5:25 p.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 46, 612572
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
Gene: idh3b has been classified as Amber List (Moderate Evidence).
Gene: idh3b has been classified as Amber List (Moderate Evidence).
Publications for gene: IDH3B were set to
Gene: idh3b has been classified as Amber List (Moderate Evidence).
gene: IDH3B was added gene: IDH3B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IDH3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IDH3B were set to Retinitis pigmentosa 46, 612572