Vascular Malformations_Germline
Gene: MAP2K1EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 20 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus it is not appropriate to include this gene on a germline testing panel.Created: 20 Jan 2020, 11:37 p.m. | Last Modified: 20 Jan 2020, 11:37 p.m.
Panel Version: 0.24
Somatic activating mutations in this gene cause sporadic vascular malformations.
Sources: Expert listCreated: 20 Jan 2020, 11:36 p.m.
Mode of inheritance
Other
Phenotypes
Intramuscular fast-flow vascular anomaly; Arteriovenous malformation
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Intramuscular fast-flow vascular anomaly
- Arteriovenous malformation
- Tags
- OMIM
- 176872
- Clinvar variants
- Variants in MAP2K1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Rasopathy
- Deafness_IsolatedAndComplex
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
- Callosome
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: map2k1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: map2k1 has been classified as Red List (Low Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: MAP2K1 was added gene: MAP2K1 was added to Inherited Vascular Malformations. Sources: Expert list somatic tags were added to gene: MAP2K1. Mode of inheritance for gene: MAP2K1 was set to Other Publications for gene: MAP2K1 were set to 31486960; 29461977; 28190454 Phenotypes for gene: MAP2K1 were set to Intramuscular fast-flow vascular anomaly; Arteriovenous malformation Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MAP2K1 was set to GREEN