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| Hereditary neuropathy or pain disorder v1.31 | BSCL2 | Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, OMIM:619112 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | BSCL2 |
Ellen McDonagh gene: BSCL2 was added gene: BSCL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BSCL2 were set to 26392352 Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685 |
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