Pigmentary skin disordersGene: MAP2K1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3
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
Added phenotypes CFC3; CARDIOFACIOCUTANEOUS SYNDROME 3 for gene: MAP2K1 Publications for gene MAP2K1 were changed from 21396583; 23321623 to 16439621
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