KDM1A

lysine demethylase 1A
OMIM: 609132, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red KDM1A in Congenital adrenal hypoplasia Level 2: Endocrinology Version 4.11 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728 congenital adrenal hyperplasia, MONDO:0018479
Amber KDM1A in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Multiple myeloma Tags Q3_25_promote_green Q3_25_expert_review
Amber KDM1A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728 Cleft palate, psychomotor retardation, and distinctive facial features
Green KDM1A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Developmental delay and distinctive facial features
Amber KDM1A in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Cleft palate,psychomotor retardation,distinctive facial features, 616728 Tags watchlist
Green KDM1A in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, 616728 Developmental delay