Congenital myopathy
Gene: MAP3K20EnsemblGeneIds (GRCh38): ENSG00000091436
EnsemblGeneIds (GRCh37): ENSG00000091436
OMIM: 609479, Gene2Phenotype
MAP3K20 is in 3 panels
4 reviews
Rachael Mein (Viapath at Guy's Hospital)
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)
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 GRCh38Created: 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 literatureCreated: 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
- OMIM
- 609479
- Clinvar variants
- Variants in MAP3K20
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MAP3K20 were changed from Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695 to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MAP3K20.
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)
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Anna Sarkozy (Great Ormond Street Hospital)MAP3K20* was added to Congenital myopathypanel. Sources: UCL
Created
Anna Sarkozy (Great Ormond Street Hospital)MAP3K20* was created by anna.sarkozy