Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Childhood onset hereditary spastic paraplegia v4.20 WASHC5 Sarah Leigh Tag Q1_23_demote_red was removed from gene: WASHC5.
Tag Q1_23_expert_review was removed from gene: WASHC5.
Childhood onset hereditary spastic paraplegia v4.20 WASHC5 Sarah Leigh reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v4.19 WASHC5 Sarah Leigh Source Expert Review Red was added to WASHC5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset hereditary spastic paraplegia v4.2 WASHC5 Achchuthan Shanmugasundram Publications for gene: WASHC5 were set to 17160902
Childhood onset hereditary spastic paraplegia v4.1 WASHC5 Achchuthan Shanmugasundram Tag Q1_23_expert_review tag was added to gene: WASHC5.
Childhood onset hereditary spastic paraplegia v4.1 WASHC5 Achchuthan Shanmugasundram Tag Q1_23_demote_red tag was added to gene: WASHC5.
Childhood onset hereditary spastic paraplegia v4.1 WASHC5 Achchuthan Shanmugasundram reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: 17160902, 23455931, 26572744, 31814071, 33662919; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM:603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v2.47 WASHC5 Ivone Leong Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, OMIM:603563
Childhood onset hereditary spastic paraplegia v2.15 WASHC5 Zornitza Stark reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant, 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.164 WASHC5 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 WASHC5 Louise Daugherty Source Yorkshire and North East GLH was added to WASHC5.
Childhood onset hereditary spastic paraplegia v1.74 WASHC5 Nick Beauchamp reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 WASHC5 Louise Daugherty commented on gene: WASHC5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.48 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 WASHC5 James Polke reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.5 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Childhood onset hereditary spastic paraplegia v1.4 WASHC5 Louise Daugherty Source London North GLH was added to WASHC5.
Childhood onset hereditary spastic paraplegia v1.3 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5
Childhood onset hereditary spastic paraplegia v1.0 WASHC5 Arianna Tucci reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v0.139 WASHC5 Louise Daugherty Publications for gene: WASHC5 were set to Valdmanis et al. (2007)
Childhood onset hereditary spastic paraplegia v0.138 WASHC5 Louise Daugherty Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant to Spastic paraplegia 8, autosomal dominant, 603563
Childhood onset hereditary spastic paraplegia v0.6 WASHC5 Sarah Leigh gene: WASHC5 was added
gene: WASHC5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WASHC5 were set to Valdmanis et al. (2007)
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant