PTCD3

pentatricopeptide repeat domain 3
OMIM: 614918, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PTCD3 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency-51, MIM#619057
  • Intellectual disability
  • optic atrophy
  • Leigh-like syndrome

Green PTCD3 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency-51, MIM#619057
  • Intellectual disability
  • optic atrophy
  • Leigh-like syndrome

Green PTCD3 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency-51, MIM#619057
  • Mental retardation
  • optic atrophy
  • Leigh-like syndrome

Green PTCD3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation deficiency-51, MIM#619057
  • Intellectual disability
  • optic atrophy
  • Leigh-like syndrome