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| Deafness_IsolatedAndComplex v1.44 | FBRSL1 | Zornitza Stark Marked gene: FBRSL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.44 | FBRSL1 | Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.44 | FBRSL1 | Zornitza Stark Classified gene: FBRSL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.44 | FBRSL1 | Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.43 | FBRSL1 | Sue White reviewed gene: FBRSL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.43 | FBRSL1 |
Elena Savva gene: FBRSL1 was added gene: FBRSL1 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBRSL1 were set to PMID: 32424618 Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome Review for gene: FBRSL1 was set to AMBER Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype. 2/3 had heart defects, cleft palate and hearing impairment. Variant pathogenicity supported by Xenopus oocyte functional studies Sources: Literature |
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