Deafness_IsolatedAndComplex
Gene: MAP3K20EnsemblGeneIds (GRCh38): ENSG00000091436
EnsemblGeneIds (GRCh37): ENSG00000091436
OMIM: 609479, Gene2Phenotype
MAP3K20 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 38451290: five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20.
Sources: LiteratureCreated: 4 Apr 2024, 12:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndromic disease, MONDO:0002254, MAP3K20-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Syndromic disease, MONDO:0002254, MAP3K20-related
- OMIM
- 609479
- Clinvar variants
- Variants in MAP3K20
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: map3k20 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: map3k20 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MAP3K20 was added gene: MAP3K20 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: MAP3K20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP3K20 were set to 38451290 Phenotypes for gene: MAP3K20 were set to Syndromic disease, MONDO:0002254, MAP3K20-related Review for gene: MAP3K20 was set to GREEN