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Vascular Malformations_Somatic

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Cerebral cavernous malformations 5, MIM# 621032

Created: 7 Dec 2024, 11:54 p.m.
Last Modified: 7 Dec 2024, 11:54 p.m.
Panel version: 1.13

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

Recurrent somatic missense variant (p.I441M) identified in sporadic cases of cerebral and spinal cavernous malformation. Recent publication demonstrates that this missense variant can drive CCM formation (in vitro and in vivo studies).
Created: 6 Apr 2023, 2:50 a.m. | Last Modified: 6 Apr 2023, 2:50 a.m.
Panel Version: 1.8

Mode of inheritance
Other

Phenotypes
Cerebral malformation, MONDO:0016054, MAP3K3-related

Publications

Created: 6 Apr 2023, 2:50 a.m.
Last Modified: 6 Apr 2023, 2:50 a.m.
Panel version: 1.8

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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: Imported from Inherited Vascular Malformations panel version 0.25

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Verrucous venous malformation
  • Cerebral cavernous malformations 5, MIM# 621032
Tags
somatic
OMIM
602539
Clinvar variants
Variants in MAP3K3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAP3K3 were changed from Verrucous venous malformation; Cerebral malformation, MONDO:0016054, MAP3K3-related to Verrucous venous malformation; Cerebral cavernous malformations 5, MIM# 621032

6 Apr 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAP3K3 were changed from Verrucous venous malformation to Verrucous venous malformation; Cerebral malformation, MONDO:0016054, MAP3K3-related

6 Apr 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAP3K3 were set to 10700190; 25728774

1 Jul 2020, 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).

1 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: MAP3K3.

1 Jul 2020, 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 Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green 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