IDH3B

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
OMIM: 604526, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green IDH3B in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 46, MIM# 612572

Amber IDH3B in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Retinitis pigmentosa 46, MIM# 612572

Green IDH3B in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 46, 612572