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Pigmentary skin disorders

Gene: MAP2K2

Green List (high evidence)
MAP2K2 (mitogen-activated protein kinase kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 17 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 4, 615280

Publications

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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.
Created: 31 Jan 2019, 11:31 a.m.

Panel version: 0.4

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 4, 615280 for gene: MAP2K2 Publications for gene MAP2K2 were changed from to 18042262

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to MAP2K2.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

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