DNAJC30

DnaJ heat shock protein family (Hsp40) member C30
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green DNAJC30 in Optic neuropathy


Level 2: Ophthalmology
Version 6.42
Latest signed off version: v6.0 (6 May 2026)

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