Possible mitochondrial disorder - nuclear genes

Gene: IDH3B

Green List (high evidence)

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

• 18806796

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.

Green List (high evidence)

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

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

• 18806796