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Intellectual disability syndromic and non-syndromic

Gene: KDM1A

Green List (high evidence)

KDM1A (lysine demethylase 1A)
EnsemblGeneIds (GRCh38): ENSG00000004487
EnsemblGeneIds (GRCh37): ENSG00000004487
OMIM: 609132, Gene2Phenotype
KDM1A is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals with de novo missense variants in this gene and a neurodevelopmental phenotype. Note one of the individuals also had a de novo indel in ANKRD11. Some data published subsequently demonstrating functional impact of all three variants.
Created: 1 Sep 2020, 3:01 a.m. | Last Modified: 1 Sep 2020, 3:01 a.m.
Panel Version: 0.2908

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleft palate, psychomotor retardation, and distinctive facial features 616728

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Cleft palate, psychomotor retardation, and distinctive facial features 616728
OMIM
609132
Clinvar variants
Variants in KDM1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm1a has been classified as Green List (High Evidence).

1 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDM1A were changed from to Cleft palate, psychomotor retardation, and distinctive facial features 616728

1 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KDM1A were set to

1 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KDM1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KDM1A was added gene: KDM1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM1A was set to Unknown