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Mendeliome v0.5627 | SGO2 |
Zornitza Stark gene: SGO2 was added gene: SGO2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGO2 were set to 27629923 Phenotypes for gene: SGO2 were set to Perrault syndrome Review for gene: SGO2 was set to RED Added comment: Single affected individual reported, though deafness was thought to be explained by a CLDN14 variant. Protein is known to be involved in meiosis. Sources: Expert list |
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Mendeliome v0.4612 | CLDN14 | Zornitza Stark Marked gene: CLDN14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.4612 | CLDN14 | Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.4612 | CLDN14 | Zornitza Stark Phenotypes for gene: CLDN14 were changed from to Deafness, autosomal recessive 29, MIM# 614035 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.4611 | CLDN14 | Zornitza Stark Publications for gene: CLDN14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.4610 | CLDN14 | Zornitza Stark Mode of inheritance for gene: CLDN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.4609 | CLDN14 | Zornitza Stark reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 11163249, 20811388, 22246673, 23235333, 27870113, 27838790, 12913076; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.0 | CLDN14 |
Zornitza Stark gene: CLDN14 was added gene: CLDN14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLDN14 was set to Unknown |