Muscular dystrophy and myopathy_Paediatric
Gene: MAP3K20
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: OtherCreated: 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
3 unrelated familiesCreated: 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
Gene: map3k20 has been classified as Green List (High Evidence).
Gene: map3k20 has been classified as Green List (High Evidence).
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