Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Hereditary spastic paraplegia, adult onset v1.95 KIDINS220 Ivone Leong Tag Q3_21_phenotype was removed from gene: KIDINS220.
Hereditary spastic paraplegia, adult onset v1.95 KIDINS220 Sarah Leigh commented on gene: KIDINS220
Hereditary spastic paraplegia, adult onset v1.94 KIDINS220 Ivone Leong Source Expert Review Amber was added to KIDINS220.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia, adult onset v1.84 KIDINS220 Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Hereditary spastic paraplegia, adult onset v1.41 KIDINS220 Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: KIDINS220.
Hereditary spastic paraplegia, adult onset v1.41 KIDINS220 Arina Puzriakova Publications for gene: KIDINS220 were set to 27005418; 29667355
Hereditary spastic paraplegia, adult onset v1.40 KIDINS220 Arina Puzriakova reviewed gene: KIDINS220: Rating: ; Mode of pathogenicity: None; Publications: 27005418, 29667355, 31630374; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia, adult onset v1.7 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia, adult onset v0.148 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia, adult onset v0.146 KIDINS220 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, adult onset v0.100 KIDINS220 Louise Daugherty Publications for gene: KIDINS220 were set to
Hereditary spastic paraplegia, adult onset v0.54 KIDINS220 Louise Daugherty Source Yorkshire and North East GLH was added to KIDINS220.
Hereditary spastic paraplegia, adult onset v0.53 KIDINS220 Nick Beauchamp reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia, adult onset v0.53 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia, adult onset v0.6 KIDINS220 Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, adult onset v0.5 KIDINS220 James Polke reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia, adult onset v0.4 KIDINS220 Louise Daugherty Source Expert Review Green was added to KIDINS220.
Mode of inheritance for gene KIDINS220 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 for gene: KIDINS220
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia, adult onset v0.3 KIDINS220 Louise Daugherty Source NHS GMS was added to KIDINS220.
Hereditary spastic paraplegia, adult onset v0.2 KIDINS220 Louise Daugherty gene: KIDINS220 was added
gene: KIDINS220 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIDINS220 was set to