DNAJC30

DnaJ heat shock protein family (Hsp40) member C30
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
No list DNAJC30 in Leber hereditary optic neuropathy


Version 2.8
Latest signed off version: v2.5 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Leber hereditary optic neuropathy, MONDO:0010788
  • LHON-like
Green DNAJC30 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leber-like hereditary optic neuropathy, autosomal recessive 1, MONDO:0958183
  • Leber-like hereditary optic neuropathy, autosomal recessive 1, OMIM:619382
Tags
  • gene-checked