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  3. MAP3K3
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Mosaic skin disorders

Gene: MAP3K3

Green List (high evidence)
MAP3K3 (mitogen-activated protein kinase kinase kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000198909
EnsemblGeneIds (GRCh37): ENSG00000198909
OMIM: 602539, Gene2Phenotype
MAP3K3 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Verrucous haemangiomas

Created: 18 Feb 2021, 7:44 a.m.
Last Modified: 18 Feb 2021, 7:44 a.m.
Panel version: 0.6

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 18 Feb 2021, 6:05 a.m.
Last Modified: 18 Feb 2021, 6:05 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Verrucous haemangiomas
Tags
somatic
OMIM
602539
Clinvar variants
Variants in MAP3K3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: MAP3K3.

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: map3k3 has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAP3K3 was added gene: MAP3K3 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP3K3 were set to 25728774 Phenotypes for gene: MAP3K3 were set to Verrucous haemangiomas