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Optic neuropathy v3.7 SPG7 Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SPG7.
Tag Q3_22_NHS_review was removed from gene: SPG7.
Optic neuropathy v3.7 SPG7 Achchuthan Shanmugasundram commented on gene: SPG7
Optic neuropathy v3.6 SPG7 Achchuthan Shanmugasundram Source NHS GMS was added to SPG7.
Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Optic neuropathy v2.72 SPG7 Ivone Leong edited their review of gene: SPG7: Added comment: Based on the expert review from Penny Clouston (Oxford) and recent literature the MOI should be changed from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Optic neuropathy v2.72 SPG7 Ivone Leong Tag Q3_21_MOI was removed from gene: SPG7.
Tag Q3_21_NHS_review was removed from gene: SPG7.
Tag Q3_22_MOI tag was added to gene: SPG7.
Tag Q3_22_NHS_review tag was added to gene: SPG7.
Optic neuropathy v2.72 SPG7 Ivone Leong Tag Q3_21_MOI tag was added to gene: SPG7.
Tag Q3_21_NHS_review tag was added to gene: SPG7.
Optic neuropathy v2.72 SPG7 Ivone Leong Phenotypes for gene: SPG7 were changed from SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259 to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, OMIM:607259; autosomal dominant optic atroph, MONDO:0020250
Optic neuropathy v2.71 SPG7 Ivone Leong Added comment: Comment on publications: New publications added
Optic neuropathy v2.71 SPG7 Ivone Leong Publications for gene: SPG7 were set to 9635427; 23065789; 22964162; 25034272
Optic neuropathy v2.70 SPG7 Penny Clouston reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32548275, 33841295; Phenotypes: Dominnat optic atrophy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.108 SPG7 Ivone Leong Classified gene: SPG7 as Green List (high evidence)
Optic neuropathy v1.108 SPG7 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There are >3 unrelated cases with different variants reported. It is associated with a phenotype in OMIM but not in Gene2Phenotype. Based on this evidence and the expert review, the gene has been given a green rating.
Optic neuropathy v1.108 SPG7 Ivone Leong Gene: spg7 has been classified as Green List (High Evidence).
Optic neuropathy v1.107 SPG7 Ivone Leong Publications for gene: SPG7 were set to
Optic neuropathy v1.84 SPG7 Ivone Leong Phenotypes for gene: SPG7 were changed from to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259
Optic neuropathy v1.83 SPG7 Ivone Leong Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 SPG7 Tom Cullup reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.27 SPG7 Ivone Leong Source London North GLH was added to SPG7.
Optic neuropathy SPG7 Ellen Thomas marked SPG7 as ready
Optic neuropathy SPG7 Ellen Thomas classified SPG7 as red
Optic neuropathy SPG7 Ellen Thomas commented on SPG7
Optic neuropathy SPG7 Ellen McDonagh classified SPG7 as amber
Optic neuropathy SPG7 Ellen McDonagh commented on SPG7