Congenital muscular dystrophy and congenital myopathy

Gene: MAP3K20

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 6 with fiber-type disproportion 617760

Publications

• 27816943

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 30 Apr 2019, 10:09 a.m.

Removed new-gene-name tag. The approved gene symbol MAP3K20 (previously uploaded as ZAK, HGNC synonyms "mixed lineage kinase 7, MLK7, MLTK, MLTKalpha, MLTKbeta, MRK, ZAK, "ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)" ) now links to the corresponding Ensembl entry for GRCh37 and GRCh38

Created: 20 Nov 2017, 11:24 a.m.

Comment when marking as ready: 3 cases with homozygous truncating mutations and appropriate phenotype. Include. (Previously known as ZAK)

Created: 7 Mar 2017, 4:42 p.m.

Comment on list classification: 3 cases in the literature

Created: 7 Mar 2017, 4:41 p.m.

Submitted as ZAK (the HGNC-approved gene symbol has now been updated).

Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy with fibre type disproportion

Publications

• 27816943