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Leber hereditary optic neuropathy v2.9 DNAJC30 Arina Puzriakova Tag curated_removed tag was added to gene: DNAJC30.
Leber hereditary optic neuropathy v2.9 DNAJC30 Sarah Leigh commented on gene: DNAJC30: DNAJC30 has been demoted to Grey on this panel, because in the October 2022 test directory, the single gene test for DNAJC30 was removed from the Leber hereditary optic neuropathy (R42) clinical indication and was moved to the Optic neuropathy (R41) panel (this change was visible in the April 2023 data release of PanelApp).
Leber hereditary optic neuropathy v2.9 DNAJC30 Sarah Leigh Publications for gene: DNAJC30 were set to 33465056; 35091433
Leber hereditary optic neuropathy v2.8 DNAJC30 Sarah Leigh Tag gene-checked was removed from gene: DNAJC30.
Leber hereditary optic neuropathy v2.8 DNAJC30 Sarah Leigh commented on gene: DNAJC30
Leber hereditary optic neuropathy v1.13 DNAJC30 Eleanor Williams Classified gene: DNAJC30 as No list
Leber hereditary optic neuropathy v1.13 DNAJC30 Eleanor Williams Added comment: Comment on list classification: Demoting from Green to Grey as this gene has been removed from the R42 (Leber hereditary optic neuropathy) clinical indication in v4 of the National Genomic Test Directory (October 2022).
Leber hereditary optic neuropathy v1.13 DNAJC30 Eleanor Williams Gene: dnajc30 has been removed from the panel.
Leber hereditary optic neuropathy v1.12 DNAJC30 Arina Puzriakova Added comment: Comment on publications: Added publication (PMID: 35091433) describing a further 35 individuals from 32 families with Leber hereditary optic neuropathy (or other autosomal inherited optic atrophies) and homozygous or compound heterozygous, putatively pathogenic DNAJC30 variants.
Leber hereditary optic neuropathy v1.12 DNAJC30 Arina Puzriakova Publications for gene: DNAJC30 were set to 33465056
Leber hereditary optic neuropathy v1.11 DNAJC30 Eleanor Williams Tag gene-checked tag was added to gene: DNAJC30.
Leber hereditary optic neuropathy v1.11 DNAJC30 Ivone Leong Tag Q2_21_rating was removed from gene: DNAJC30.
Tag Q2_21_NHS_review was removed from gene: DNAJC30.
Leber hereditary optic neuropathy v1.11 DNAJC30 Ivone Leong commented on gene: DNAJC30: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Leber hereditary optic neuropathy v1.10 DNAJC30 Ivone Leong Source Expert Review Green was added to DNAJC30.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leber hereditary optic neuropathy v1.9 DNAJC30 Ivone Leong Phenotypes for gene: DNAJC30 were changed from Leber hereditary optic neuropathy; LHON-like to Leber hereditary optic neuropathy, MONDO:0010788; LHON-like
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Classified gene: DNAJC30 as Amber List (moderate evidence)
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Gene: dnajc30 has been classified as Amber List (Moderate Evidence).
Leber hereditary optic neuropathy v1.7 DNAJC30 Ivone Leong Tag watchlist was removed from gene: DNAJC30.
Tag Q2_21_rating tag was added to gene: DNAJC30.
Tag Q2_21_NHS_review tag was added to gene: DNAJC30.
Leber hereditary optic neuropathy v1.7 DNAJC30 Zornitza Stark reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: None; Publications: 33465056; Phenotypes: Leber Hereditary Optic Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leber hereditary optic neuropathy v1.7 DNAJC30 Neringa Jurkute reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33465056; Phenotypes: LHON-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leber hereditary optic neuropathy v1.7 DNAJC30 Neringa Jurkute Deleted their review
Leber hereditary optic neuropathy v1.7 DNAJC30 Ivone Leong Phenotypes for gene: DNAJC30 were changed from Leber hereditary optic neuropathy to Leber hereditary optic neuropathy; LHON-like
Leber hereditary optic neuropathy v1.6 DNAJC30 Ivone Leong Publications for gene: DNAJC30 were set to
Leber hereditary optic neuropathy v1.5 DNAJC30 Neringa Jurkute reviewed gene: DNAJC30: Rating: RED; Mode of pathogenicity: Other; Publications: PMID: 33465056; Phenotypes: LHON-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leber hereditary optic neuropathy v1.4 DNAJC30 Eleanor Williams gene: DNAJC30 was added
gene: DNAJC30 was added to Leber hereditary optic neuropathy. Sources: Literature
watchlist tags were added to gene: DNAJC30.
Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC30 were set to Leber hereditary optic neuropathy
Review for gene: DNAJC30 was set to RED
Added comment: ESHG 2020 conference presentation - C25.5 - Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy - Sarah Stenton et al. Report 29 families with individuals with biallelic variants in DNAJC30 and a Leber's hereditary optic neuropathy. 27 of the families have the same p.Tyr51Cys variant and come from Eastern Europe. Analysis suggests a founder mutation from 85 generations agao. 2 other variants found in other families p.Pro78Ser and p.Leu101Gln. Pentrance is not complete.
No publication relating to this work is found in PubMed at this time.
Sources: Literature