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  3. KMT2A
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Growth failure

Gene: KMT2A

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Short stature is a feature.
Created: 1 Oct 2021, 12:04 a.m. | Last Modified: 1 Oct 2021, 12:04 a.m.
Panel Version: 1.7
Created: 1 Oct 2021, 12:04 a.m.
Last Modified: 1 Oct 2021, 12:04 a.m.
Panel version: 1.7

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Wiedemann-Steiner syndrome is a congenital malformation syndrome characteriSed by hypertrichosis cubiti/back, short stature/growth retardation, mild to moderate intellectual disability; behavioral difficulties, and dysmorphism (long eyelashes, thick/arched eyebrows with lateral flare, broad nasal bridge, and downslanting and vertically narrow palpebral fissures). Many patients reported in the literature.
Sources: Literature
Created: 30 Sep 2021, 11:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Wiedemann-Steiner syndrome; OMIM #605130

Publications

Created: 30 Sep 2021, 11:14 p.m.

Panel version: 1.5

Details

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

History Filter Activity

1 Oct 2021, 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).

1 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KMT2A were set to PubMed: 22795537, 25810209, 29574747, 33783954

30 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

30 Sep 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: KMT2A was added gene: KMT2A was added to Growth failure. Sources: Literature Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2A were set to PubMed: 22795537, 25810209, 29574747, 33783954 Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome; OMIM #605130 Review for gene: KMT2A was set to GREEN