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| Hypogonadotropic hypogonadism v1.22 | CCDC141 | Ivone Leong Classified gene: CCDC141 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.22 | CCDC141 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) and Anna de Burca (Genomics England Curator). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.22 | CCDC141 | Ivone Leong Gene: ccdc141 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.20 | CCDC141 | Ivone Leong Phenotypes for gene: CCDC141 were changed from Normosmic IHH to Normosmic IHH (no OMIM) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.19 | CCDC141 | Ivone Leong Publications for gene: CCDC141 were set to PMID: 28324054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.18 | CCDC141 | Martina Owens reviewed gene: CCDC141: Rating: AMBER; Mode of pathogenicity: ; Publications: 28324054, 27014940; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.17 | CCDC141 |
Anna de Burca gene: CCDC141 was added gene: CCDC141 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: CCDC141 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC141 were set to PMID: 28324054 Phenotypes for gene: CCDC141 were set to Normosmic IHH Review for gene: CCDC141 was set to AMBER Added comment: Only one publication, but describes 9 affected individuals from four families and includes functional evidence. Sources: Literature |
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