Deafness_IsolatedAndComplex
Gene: MAP1BEnsemblGeneIds (GRCh38): ENSG00000131711
EnsemblGeneIds (GRCh37): ENSG00000131711
OMIM: 157129, Gene2Phenotype
MAP1B is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 83, MIM# 619808
Elena Savva (Victorian Clinical Genetics Services)
PMID: 33268592 - three unrelated patients with heterozygous missense variants and nonsyndromic sensorineural hearing loss. Functional studies on one missense show reduced protein expression and less phosphorylation.
Variant correction via CRISPR rescued cell dysfunction, and K/O mice show hearing loss
Sources: LiteratureCreated: 6 Sep 2021, 11:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Periventricular nodular heterotopia 9 MIM#618918; sensorineural hearing loss
Publications
- PMID: 33268592
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Deafness, autosomal dominant 83, MIM# 619808
- OMIM
- 157129
- Clinvar variants
- Variants in MAP1B
- Penetrance
- None
- Publications
-
- PMID: 33268592
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9 MIM#618918; sensorineural hearing loss to Deafness, autosomal dominant 83, MIM# 619808
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: map1b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: map1b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: MAP1B was added gene: MAP1B was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP1B were set to PMID: 33268592 Phenotypes for gene: MAP1B were set to Periventricular nodular heterotopia 9 MIM#618918; sensorineural hearing loss Review for gene: MAP1B was set to GREEN