Pigmentary skin disordersGene: MAP2K2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CARDIOFACIOCUTANEOUS SYNDROME 4, 615280
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: MAP2K2; 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, 11:31 a.m.
Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 4, 615280 for gene: MAP2K2 Publications for gene MAP2K2 were changed from to 18042262
Source London North GLH was added to MAP2K2.
gene: MAP2K2 was added gene: MAP2K2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 4, 615280