Activity

Filter

Cancel
Date Panel Item Activity
18 actions
Adult onset leukodystrophy v3.23 MARS Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: MARS.
Tag Q4_21_rating was removed from gene: MARS.
Tag Q4_21_phenotype was removed from gene: MARS.
Adult onset leukodystrophy v1.47 MARS Eleanor Williams commented on gene: MARS
Adult onset leukodystrophy v1.47 MARS Eleanor Williams Tag Q4_21_rating tag was added to gene: MARS.
Adult onset leukodystrophy v1.40 MARS Sarah Leigh commented on gene: MARS
Adult onset leukodystrophy v1.40 MARS Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: MARS.
Adult onset leukodystrophy v1.35 MARS Ivone Leong Tag Q4_21_expert_review tag was added to gene: MARS.
Tag Q4_21_phenotype tag was added to gene: MARS.
Adult onset leukodystrophy v1.4 MARS Zornitza Stark reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U MIM#616280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.19 MARS David Lynch reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.15 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Adult onset leukodystrophy v0.15 MARS Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Adult onset leukodystrophy v0.15 MARS Catherine Snow Mode of inheritance for gene MARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 for gene: MARS
Adult onset leukodystrophy v0.14 MARS Catherine Snow reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.10 MARS Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.9 MARS Ian Berry reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.8 MARS Louise Daugherty Publications for gene MARS were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.7 MARS Louise Daugherty Source Expert Review Green was added to MARS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.6 MARS Louise Daugherty Source NHS GMS was added to MARS.
Adult onset leukodystrophy v0.5 MARS Louise Daugherty gene: MARS was added
gene: MARS was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: MARS was set to