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Hereditary neuropathy v1.300 | C19orf12 | Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.270 | C19orf12 | Louise Daugherty Publications for gene: C19orf12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.269 | C19orf12 | Louise Daugherty Phenotypes for gene: C19orf12 were changed from to Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298; SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.268 | C19orf12 | Louise Daugherty Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.268 | C19orf12 | Louise Daugherty Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.121 | C19orf12 | Alexander Rossor reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: 20039086, 23857908; Phenotypes: SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.119 | C19orf12 | Louise Daugherty Source NHS GMS was added to C19orf12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.118 | C19orf12 |
Louise Daugherty gene: C19orf12 was added gene: C19orf12 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: C19orf12 was set to |