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Newborns main panel

Gene: KDM1A

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34906447 - 9 cases. PMID: 34655521 - 17 patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • KDM1A associated ACTH-independent macronodular adrenal hyperplasia
OMIM
609132
Clinvar variants
Variants in KDM1A
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to KDM1A. Added phenotypes KDM1A associated ACTH-independent macronodular adrenal hyperplasia for gene: KDM1A Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes KDM1A associated ACTH-independent macronodular adrenal hyperplasia for gene: KDM1A

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to KDM1A. Added phenotypes KDM1A associated ACTH-independent macronodular adrenal hyperplasia for gene: KDM1A Rating Changed from No List (delete) to Red List (low evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: KDM1A was added gene: KDM1A was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KDM1A were set to KDM1A associated ACTH-independent macronodular adrenal hyperplasia