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| Deafness_Isolated v1.8 | GREB1L |
Zornitza Stark gene: GREB1L was added gene: GREB1L was added to Deafness_Isolated. Sources: Expert list Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GREB1L were set to 29955957; 32585897 Phenotypes for gene: GREB1L were set to Deafness, autosomal dominant 80, MIM# 619274 Review for gene: GREB1L was set to GREEN Added comment: DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves. Four unrelated families reported, no comment on a renal phenotype. Note variants in this gene are also associated with renal agenesis. Sources: Expert list |
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| Deafness_Isolated v0.41 | COCH | Zornitza Stark Marked gene: COCH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.41 | COCH | Zornitza Stark Gene: coch has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.41 | COCH | Zornitza Stark Phenotypes for gene: COCH were changed from Non syndromic deafness to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.40 | COCH | Zornitza Stark Publications for gene: COCH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v0.0 | COCH |
Zornitza Stark gene: COCH was added gene: COCH was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COCH were set to Non syndromic deafness |
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