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| DDG2P v3.12 | CHAMP1 | Achchuthan Shanmugasundram reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27148580, 26340335, 26751395, 35271727, 36106092; Phenotypes: CHAMP1-related neurodevelopmental disorder, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHAMP1 | Achchuthan Shanmugasundram Publications for gene: CHAMP1 were updated from 26340335 to 27148580; 26340335; 26751395; 35271727; 36106092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.8 | KMT2E | Rebecca Foulger Added comment: Comment on phenotypes: Removed MIM ID 616579 from phenotype field, as MIM:616579 is associated with a different gene (CHAMP1). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHAMP1 | Rebecca Foulger reviewed gene: CHAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CHAMP1 |
Rebecca Foulger gene: CHAMP1 was added gene: CHAMP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHAMP1 were set to 26340335 Phenotypes for gene: CHAMP1 were set to INTELLECTUAL DISABILITY |
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