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  3. KDM1A
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Congenital adrenal hypoplasia

Gene: KDM1A

Red List (low evidence)
KDM1A (lysine demethylase 1A)
EnsemblGeneIds (GRCh38): ENSG00000004487
EnsemblGeneIds (GRCh37): ENSG00000004487
OMIM: 609132, Gene2Phenotype
KDM1A is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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

Created: 10 Apr 2024, 7:06 p.m.
Last Modified: 10 Apr 2024, 7:06 p.m.
Panel version: 3.9

Lauma Freimane (Children's Clinical University Hospital)

Green List (high evidence)

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
Created: 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

Created: 8 Nov 2023, 9:39 a.m.

Panel version: 3.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728
  • congenital adrenal hyperplasia, MONDO:0018479
OMIM
609132
Clinvar variants
Variants in KDM1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Apr 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

10 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: kdm1a has been classified as Red List (Low Evidence).

8 Nov 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lauma Freimane (Children's Clinical University Hospital)

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