DDG2P
Gene: MAP3K20

MAP3K20 (mitogen-activated protein kinase kinase kinase 20)
EnsemblGeneIds (GRCh38): ENSG00000091436
EnsemblGeneIds (GRCh37): ENSG00000091436
OMIM: 609479, Gene2Phenotype
MAP3K20 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies are limited, monoallelic_autosomal and undetermined (PMID:38451290). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03762. The DDG2P confidence category, allelic requirement and molecular mechanism for MAP3K20-related split-foot malformation with mesoaxial polydactyly are moderate, biallelic_autosomal and loss of function (PMIDs: 26755636, 32021595). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03763. The DDG2P confidence category, allelic requirement and molecular mechanism for MAP3K20-related centronuclear myopathy are moderate, biallelic_autosomal and loss of function (PMID:27816943). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03764.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0054695; MAP3K20-related split-foot malformation with mesoaxial polydactyly; MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies; MAP3K20-related centronuclear myopathy; OMIM:616890.0; MONDO:0014816; OMIM:617760.0

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0054695
MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies
OMIM:617760.0
MAP3K20-related centronuclear myopathy
OMIM:616890.0
MAP3K20-related split-foot malformation with mesoaxial polydactyly
MONDO:0014816

OMIM

609479

Clinvar variants

Variants in MAP3K20

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MAP3K20 was added gene: MAP3K20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP3K20 were set to 26755636; 32021595; 38451290; 27816943 Phenotypes for gene: MAP3K20 were set to MONDO:0054695; MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies; OMIM:617760.0; MAP3K20-related centronuclear myopathy; OMIM:616890.0; MAP3K20-related split-foot malformation with mesoaxial polydactyly; MONDO:0014816

DDG2P Gene: MAP3K20