Childhood solid tumours
Gene: MAP2K1EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 19 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that RASopathy associated genes associated with cancer will be included in this panel; however, there it is unclear whether this gene predisposes patients to cancer so therefore this has been rated amber.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Unclear predisposition to cancer.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- Expert List
- Phenotypes
-
- Cardiofaciocutaneous Syndrome
- Cardio-Facio-Cutaneous syndrome
- CFC syndrome
- LEOPARD syndrome
- Cardiofaciocutaneous syndrome 3
- ?Noonan syndrome
- OMIM
- 176872
- Clinvar variants
- Variants in MAP2K1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Hypertrophic cardiomyopathy
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Mosaic skin disorders - deep sequencing
- DDG2P
- Hereditary neuropathy
- Neurofibromatosis Type 1
- Fetal hydrops
- Fetal anomalies
- RASopathies
- IUGR and IGF abnormalities
- Intellectual disability
- Childhood solid tumours
- Pigmentary skin disorders
History Filter Activity
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MAP2K1. Source Expert Review Amber was added to MAP2K1. Mode of inheritance for gene MAP2K1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome for gene: MAP2K1 Publications for gene MAP2K1 were changed from to 23875798 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: MAP2K1 was added gene: MAP2K1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: MAP2K1 was set to