Optic neuropathy
Gene: DNAJC30The gene-checked tag has been removed, as this gene is now associated with Leber-like hereditary optic neuropathy, autosomal recessive 1, (OMIM:619382).Created: 20 Feb 2024, 5:55 p.m. | Last Modified: 20 Feb 2024, 5:55 p.m.
Panel Version: 4.21
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 1:02 p.m. | Last Modified: 30 Jan 2023, 1:02 p.m.
Panel Version: 3.7
Tag gene-checked was removed from gene: DNAJC30.
Phenotypes for gene: DNAJC30 were changed from Leber hereditary optic neuropathy, MONDO:0010788 to Leber-like hereditary optic neuropathy, autosomal recessive 1, MONDO:0958183; Leber-like hereditary optic neuropathy, autosomal recessive 1, OMIM:619382
Publications for gene: DNAJC30 were set to 33465056; 35091433
Phenotypes for gene: DNAJC30 were changed from to Leber hereditary optic neuropathy, MONDO:0010788
Publications for gene: DNAJC30 were set to
Tag gene-checked tag was added to gene: DNAJC30.
gene: DNAJC30 was added gene: DNAJC30 was added to Optic neuropathy. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal