Activity
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| Deafness_IsolatedAndComplex v1.161 | MAP1B | Zornitza Stark Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9 MIM#618918; sensorineural hearing loss to Deafness, autosomal dominant 83, MIM# 619808 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.160 | MAP1B | Zornitza Stark reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 83, MIM# 619808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.91 | MAP1B | Zornitza Stark Marked gene: MAP1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.91 | MAP1B | Zornitza Stark Gene: map1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.91 | MAP1B | Zornitza Stark Classified gene: MAP1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.91 | MAP1B | Zornitza Stark Gene: map1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.90 | MAP1B |
Elena Savva 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 Added comment: 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: Literature |
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