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  3. MAP2K1
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Pigmentary skin disorders

Gene: MAP2K1

Green List (high evidence)
MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 19 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Publications

Created: 12 Dec 2019, 12:23 p.m.
Last Modified: 12 Dec 2019, 12:23 p.m.
Panel version: 0.25

Catherine Snow (Genomics England)

Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Green gene.
Created: 17 Sep 2019, 5:07 p.m. | Last Modified: 17 Sep 2019, 5:07 p.m.
Panel Version: 0.13
Created: 17 Sep 2019, 5:07 p.m.
Last Modified: 17 Sep 2019, 5:07 p.m.
Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Cardiofaciocutaneous Syndrome
  • CFC syndrome
  • LEOPARD syndrome
  • CFC3
  • Cardio-Facio-Cutaneous syndrome
  • ?Noonan syndrome
  • Cardiofaciocutaneous syndrome 3
  • CARDIOFACIOCUTANEOUS SYNDROME 3
OMIM
176872
Clinvar variants
Variants in MAP2K1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes CFC3; CARDIOFACIOCUTANEOUS SYNDROME 3 for gene: MAP2K1 Publications for gene MAP2K1 were changed from 21396583; 23321623 to 16439621

3 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

gene: MAP2K1 was added gene: MAP2K1 was added to Pigmentary skin disorders. Sources: UKGTN,Eligibility statement prior genetic testing,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to 21396583; 23321623 Phenotypes for gene: MAP2K1 were set to Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome 3