Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Hereditary neuropathy or pain disorder v6.148 ARL6IP1 Sarah Leigh Tag Q3_24_promote_green was removed from gene: ARL6IP1.
Tag Q3_24_NHS_review was removed from gene: ARL6IP1.
Hereditary neuropathy or pain disorder v6.148 ARL6IP1 Sarah Leigh commented on gene: ARL6IP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v6.147 ARL6IP1 Sarah Leigh Source Expert Review Green was added to ARL6IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.26 ARL6IP1 Sarah Leigh Classified gene: ARL6IP1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.26 ARL6IP1 Sarah Leigh Gene: arl6ip1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.25 ARL6IP1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARL6IP1.
Tag Q3_24_NHS_review tag was added to gene: ARL6IP1.
Hereditary neuropathy or pain disorder v6.20 ARL6IP1 Sarah Leigh reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28471035, 31272422, 33188530, 30237576, 24482476, 30980493; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685, hereditary spastic paraplegia 61, MONDO:0014304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor edited their review of gene: ARL6IP1: Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor changed review comment from: multiple individuals with neuropathy; to: multiple individuals with neuropathy
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor reviewed gene: ARL6IP1: Rating: ; Mode of pathogenicity: None; Publications: 28471035: 24482476: 31272422; Phenotypes: Spastic paraplegia, neuropathy; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor Deleted their review
Hereditary neuropathy or pain disorder v0.1 ARL6IP1 Ellen McDonagh gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to 24482476
Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy