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| Hereditary Neuropathy_CMT - isolated v0.158 | SPTLC2 | Zornitza Stark Marked gene: SPTLC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.158 | SPTLC2 | Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.158 | SPTLC2 | Zornitza Stark Phenotypes for gene: SPTLC2 were changed from Neuropathy, hereditary sensory and autonomic, type IC, 613640; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; HSAN/SFN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.157 | SPTLC2 | Zornitza Stark Publications for gene: SPTLC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.156 | SPTLC2 | Zornitza Stark Mode of inheritance for gene: SPTLC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.155 | SPTLC2 | Zornitza Stark reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920666, 23658386, 31509666, 30866134; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | SPTLC2 |
Bryony Thompson gene: SPTLC2 was added gene: SPTLC2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, 613640; HSAN/SFN |
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