Congenital myopathy

Gene: MAP3K20

Green List (high evidence)

MAP3K20 (mitogen-activated protein kinase kinase kinase 20)
EnsemblGeneIds (GRCh38): ENSG00000091436
EnsemblGeneIds (GRCh37): ENSG00000091436
OMIM: 609479, Gene2Phenotype
MAP3K20 is in 4 panels

4 reviews

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 6 with fiber-type disproportion 617760

Publications

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

Louise Daugherty (Genomics England Curator)

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.

Helen Brittain (Genomics England Curator)

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.

Anna Sarkozy (Great Ormond Street Hospital)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
  • Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695
OMIM
609479
Clinvar variants
Variants in MAP3K20
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MAP3K20 were changed from congenital myopathy with fibre type disproportion to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MAP3K20.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MAP3K20. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

MAP3K20* was created by anna.sarkozy

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

MAP3K20* was added to Congenital myopathypanel. Sources: UCL