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  2. Muscular dystrophy and myopathy_Paediatric
  3. MAP3K20
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Muscular dystrophy and myopathy_Paediatric

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 7 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Age of onset - Infancy or early childhood

Phenotype and muscle biopsy abnormalities are variable - centralized nuclei and fibre type disproportion seem to be a common finding

PMID: 27816943
6 individuals from 3 unrelated consanguineous families with myopathy
Sources: Other
Created: 8 May 2023, 11:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760; MONDO:0054695)

Publications

Created: 8 May 2023, 11:53 p.m.

Panel version: 0.128

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 unrelated families
Created: 10 Feb 2020, 6:19 a.m. | Last Modified: 10 Feb 2020, 6:19 a.m.
Panel Version: 0.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 6 with fiber-type disproportion MIM#617760

Publications

Created: 10 Feb 2020, 6:19 a.m.
Last Modified: 10 Feb 2020, 6:19 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760
  • MONDO:0054695)
OMIM
609479
Clinvar variants
Variants in MAP3K20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: map3k20 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: map3k20 has been classified as Green List (High Evidence).

8 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: MAP3K20 was added gene: MAP3K20 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP3K20 were set to 27816943 Phenotypes for gene: MAP3K20 were set to Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760; MONDO:0054695) Review for gene: MAP3K20 was set to GREEN