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| DDG2P v3.12 | NHS | Achchuthan Shanmugasundram reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 15623749, 14564667, 458526, 2246772, 19414485, 11836358; Phenotypes: NANCE-HORAN SYNDROME, OMIM:302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NHS | Achchuthan Shanmugasundram Publications for gene: NHS were updated from 19414485; 11836358 to 15623749; 14564667; 458526; 2246772; 19414485; 11836358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.63 | DMPK_CTG |
Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Source NHS GMS was added to STR: DMPK_CTG. |
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| DDG2P v0.2 | NHS | Rebecca Foulger reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NHS |
Rebecca Foulger Added phenotypes CATARACT CONGENITAL X-LINKED 302200 for gene: NHS Publications for gene NHS were changed from 15623749; 458526; 14564667; 2246772 to 19414485; 11836358 |
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| DDG2P v0.1 | NHS |
Rebecca Foulger gene: NHS was added gene: NHS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NHS were set to 15623749; 458526; 14564667; 2246772 Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME 302350 |
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