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  2. Vascular Malformations_Germline
  3. MAP3K3
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Vascular Malformations_Germline

Gene: MAP3K3

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Somatic mutations are the cause of vascular malformations, thus this gene is not appropriate for a germline testing panel.
Created: 21 Jan 2020, 12:02 a.m. | Last Modified: 21 Jan 2020, 12:02 a.m.
Panel Version: 0.26
Somatic variants have been identified in 6 (out of 10) verrucous venous malformation specimens (and not in the germline). The authors suggest that the somatic mutations have a neomorphic or hypermorphic function.
Sources: Expert list
Created: 21 Jan 2020, midnight

Mode of inheritance
Other

Phenotypes
Verrucous venous malformation

Publications

Created: 21 Jan 2020, midnight

Panel version: 0.25

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Verrucous venous malformation
Tags
somatic
OMIM
602539
Clinvar variants
Variants in MAP3K3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: map3k3 has been classified as Red List (Low Evidence).

21 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: map3k3 has been classified as Red List (Low Evidence).

21 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MAP3K3 was added gene: MAP3K3 was added to Inherited Vascular Malformations. Sources: Expert list somatic tags were added to gene: MAP3K3. Mode of inheritance for gene: MAP3K3 was set to Other Publications for gene: MAP3K3 were set to 10700190; 25728774 Phenotypes for gene: MAP3K3 were set to Verrucous venous malformation Review for gene: MAP3K3 was set to GREEN