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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 v1.5 PRICKLE3 Ivone Leong Classified gene: PRICKLE3 as Red List (low evidence)
Leber hereditary optic neuropathy v1.5 PRICKLE3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating.
Leber hereditary optic neuropathy v1.5 PRICKLE3 Ivone Leong Gene: prickle3 has been classified as Red List (Low Evidence).
Leber hereditary optic neuropathy v1.4 PRICKLE3 Zornitza Stark gene: PRICKLE3 was added
gene: PRICKLE3 was added to Leber hereditary optic neuropathy. Sources: Literature
Mode of inheritance for gene: PRICKLE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRICKLE3 were set to 32516135
Phenotypes for gene: PRICKLE3 were set to Leber’s hereditary optic neuropathy
Review for gene: PRICKLE3 was set to RED
Added comment: Reported as X-linked LHON modifier (c.157C>T, p.Arg53Trp) in PRICKLE3 in 3 Chinese families. All affected individuals carried both ND4 11778G>A and p.Arg53Trp variants.

Defective assembly, stability, and function of ATP synthase observed using Lymphoblastoid cell lines from one of the families.

Propose that the p.Arg53Trp variant acts in synergy with the m.11778G>A variant.

Prickle3-deficient mice exhibited pronounced ATPase deficiencies.
Sources: Literature
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
Leber hereditary optic neuropathy v1.3 Sarah Leigh Panel version has been signed off
Leber hereditary optic neuropathy v1.0 Ivone Leong promoted panel to version 1.0
Leber hereditary optic neuropathy v0.8 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Leber hereditary optic neuropathy v0.5 Ivone Leong List of related panels changed from to R42
Leber hereditary optic neuropathy v0.2 MT-ND6 Ivone Leong gene: MT-ND6 was added
gene: MT-ND6 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Publications for gene: MT-ND6 were set to 26448634; 24884847; 24398099; 24417559
Phenotypes for gene: MT-ND6 were set to severe infantile-onset complex I deficiency; Nystagmus; Leber hereditary optic neuropathy
Leber hereditary optic neuropathy v0.2 MT-ND4 Ivone Leong gene: MT-ND4 was added
gene: MT-ND4 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 26448634; 27159682; 23665487; 23805034; 26683077; 22553750; 20301353
Phenotypes for gene: MT-ND4 were set to Leber's hereditary optic neuropathy
Leber hereditary optic neuropathy v0.2 MT-ND1 Ivone Leong gene: MT-ND1 was added
gene: MT-ND1 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Publications for gene: MT-ND1 were set to 26448634; 24884847; 27449621; 23665487; 24800637; 27177320; 20301353
Phenotypes for gene: MT-ND1 were set to Leber's hereditary optic neuropathy; External ophthalmoplegia; Optic neuropathy and nystagmus
Leber hereditary optic neuropathy v0.0 Ellen McDonagh Added Panel Leber hereditary optic neuropathy
Set panel types to: GMS Rare Disease