Activity
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7 actions
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| Hereditary neuropathy or pain disorder v2.18 | SH3TC2 | Mafalda Gomes Tag Q2_22_MOI was removed from gene: SH3TC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.18 | SH3TC2 | Eleanor Williams commented on gene: SH3TC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.17 | SH3TC2 | Mafalda Gomes Mode of inheritance for gene SH3TC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.101 | SH3TC2 | Sarah Leigh Phenotypes for gene: SH3TC2 were changed from Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 to Charcot-Marie-Tooth disease, type 4C, OMIM:601596; Mononeuropathy of the median nerve, mild, OMIM:613353 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.100 | SH3TC2 | Sarah Leigh Tag Q2_22_MOI tag was added to gene: SH3TC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.100 | SH3TC2 | Sarah Leigh reviewed gene: SH3TC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C, OMIM:601596, Mononeuropathy of the median nerve, mild, OMIM:613353; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | SH3TC2 |
Ellen McDonagh gene: SH3TC2 was added gene: SH3TC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3TC2 were set to 19805030 Phenotypes for gene: SH3TC2 were set to Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 |
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