Polydactyly
Gene: MAP3K20EnsemblGeneIds (GRCh38): ENSG00000091436
EnsemblGeneIds (GRCh37): ENSG00000091436
OMIM: 609479, Gene2Phenotype
MAP3K20 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
PMID: 26755636 - Polydactyly is a feature of the condition in two consanguineous families with homozygous variants. A mouse model recapitulates the phenotype.
PMID: 32266845 - A heterozygous missense was identified in a case with split hand/foot malformation (SHFM), but also large deletion including SHFM-causing genes is also present
Sources: Expert listCreated: 22 Sep 2021, 12:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Split-foot malformation with mesoaxial polydactyly MIM#616890
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Split-foot malformation with mesoaxial polydactyly MIM#616890
- OMIM
- 609479
- Clinvar variants
- Variants in MAP3K20
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: map3k20 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: map3k20 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MAP3K20 was added gene: MAP3K20 was added to Polydactyly. Sources: Expert list Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP3K20 were set to 26755636; 32266845 Phenotypes for gene: MAP3K20 were set to Split-foot malformation with mesoaxial polydactyly MIM#616890 Review for gene: MAP3K20 was set to GREEN