Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary neuropathy v1.300 | ARL6IP1 | Louise Daugherty reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.281 | ARL6IP1 | Louise Daugherty Publications for gene: ARL6IP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.280 | ARL6IP1 | Louise Daugherty Phenotypes for gene: ARL6IP1 were changed from to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.279 | ARL6IP1 | Louise Daugherty Mode of inheritance for gene: ARL6IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.121 | ARL6IP1 | Alexander Rossor reviewed gene: ARL6IP1: Rating: RED; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: Childhood onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.119 | ARL6IP1 | Louise Daugherty Source NHS GMS was added to ARL6IP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.118 | ARL6IP1 |
Louise Daugherty gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ARL6IP1 was set to |