Congenital adrenal hypoplasia
Gene: KDM1A
All evidences reported in PMIDs: 34655521 & 34906447 and reviewed by Lauma Freimane showed the association of KDM1A with primary bilateral macronodular adrenal hyperplasia (PBMAH). However, this panel is for adrenal hypoplasia rather than adrenal hyperplasia. Hence, this gene should be rated red.Created: 10 Apr 2024, 7:06 p.m. | Last Modified: 10 Apr 2024, 7:06 p.m.
Panel Version: 3.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; congenital adrenal hyperplasia, MONDO:0018479
KDM1A inactivation explains about 90% of food-dependent Cushing syndrome observed in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) (PMID: 34906447).
Sources: Expert ReviewCreated: 8 Nov 2023, 9:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Food-dependent Cushing syndrome (FDCS)
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Gene: kdm1a has been classified as Red List (Low Evidence).
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