Vascular Malformations_Somatic
Gene: MAP2K1EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 20 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 Green
- Expert list
- Expert list
- Phenotypes
-
- Arteriovenous malformation
- Intramuscular fast-flow vascular anomaly
- 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 Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: MAP2K1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MAP2K1 was added gene: MAP2K1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: MAP2K1 was set to Other Publications for gene: MAP2K1 were set to 31486960; 28190454; 29461977 Phenotypes for gene: MAP2K1 were set to Arteriovenous malformation; Intramuscular fast-flow vascular anomaly 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