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BabyScreen+ newborn screening

Gene: MAP2K2

Red List (low evidence)

MAP2K2 (mitogen-activated protein kinase kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 15 panels

1 review

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong

Onset: birth

Treatment: None specific, cardiac surveillance and care
Created: 27 Sep 2022, 2:45 a.m. | Last Modified: 27 Sep 2022, 2:45 a.m.
Panel Version: 0.229

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CFC syndrome

History Filter Activity

27 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: map2k2 has been classified as Red List (Low Evidence).

27 Sep 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAP2K2 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 4, MIM# 615280

27 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: map2k2 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAP2K2 was added gene: MAP2K2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome