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| Congenital adrenal hypoplasia v3.11 | KDM1A | Achchuthan Shanmugasundram Phenotypes for gene: KDM1A were changed from Food-dependent Cushing syndrome (FDCS) to Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; congenital adrenal hyperplasia, MONDO:0018479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.10 | KDM1A | Achchuthan Shanmugasundram Classified gene: KDM1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.10 | KDM1A | Achchuthan Shanmugasundram Gene: kdm1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.9 | KDM1A | Achchuthan Shanmugasundram reviewed gene: KDM1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728, congenital adrenal hyperplasia, MONDO:0018479; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.9 | KDM1A | Lauma Freimane edited their review of gene: KDM1A: Changed publications to: 34906447, 34655521 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.9 | KDM1A |
Lauma Freimane gene: KDM1A was added gene: KDM1A was added to Congenital adrenal hypoplasia. Sources: Expert Review Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM1A were set to 34906447 Phenotypes for gene: KDM1A were set to Food-dependent Cushing syndrome (FDCS) Review for gene: KDM1A was set to GREEN gene: KDM1A was marked as current diagnostic Added comment: KDM1A inactivation explains about 90% of food-dependent Cushing syndrome observed in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) (PMID: 34906447). Sources: Expert Review |
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