Mosaic skin disorders - deep sequencing
Gene: MAP2K1
MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 19 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
K57N + indels in same region. Mosaicism: 2-7% in affected tissue.Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arteriovenous malformation
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: MAP2K1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cardio-facio-cutaneous syndrome
- OMIM
- 176872
- Clinvar variants
- Variants in MAP2K1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Hereditary neuropathy or pain disorder
- DDG2P
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
5 Dec 2019, Gel status: 3
Set publications
Catherine Snow (Genomics England)Publications for gene MAP2K1 were changed from to 29461977
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to MAP2K1.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: MAP2K1 was added gene: MAP2K1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome