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  2. Hypertrichosis syndromes
  3. KMT2A
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Hypertrichosis syndromes

Gene: KMT2A

Green List (high evidence)
KMT2A (lysine methyltransferase 2A)
EnsemblGeneIds (GRCh38): ENSG00000118058
EnsemblGeneIds (GRCh37): ENSG00000118058
OMIM: 159555, Gene2Phenotype
KMT2A is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Wiedemann-Steiner syndrome, MIM# 605130 AD

Created: 28 Feb 2020, 9:12 a.m.
Last Modified: 28 Feb 2020, 9:12 a.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wiedemann-Steiner syndrome, MIM# 605130 AD
OMIM
159555
Clinvar variants
Variants in KMT2A
Penetrance
None
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kmt2a has been classified as Green List (High Evidence).

28 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD

28 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KMT2A was added gene: KMT2A was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KMT2A was set to Unknown