Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Mendeliome v0.12262 OTOG Zornitza Stark Marked gene: OTOG as ready
Mendeliome v0.12262 OTOG Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
Mendeliome v0.12262 OTOG Zornitza Stark Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B - MIM#614945
Mendeliome v0.12258 OTOG Zornitza Stark Publications for gene: OTOG were set to
Mendeliome v0.12257 OTOG Zornitza Stark Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 OTOG Krithika Murali reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10764 NECTIN1 Zornitza Stark Phenotypes for gene: NECTIN1 were changed from to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Zlotogora-Ogur syndrome
Mendeliome v0.10749 NECTIN1 Ain Roesley reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.4714 OTOGL Zornitza Stark Marked gene: OTOGL as ready
Mendeliome v0.4714 OTOGL Zornitza Stark Gene: otogl has been classified as Green List (High Evidence).
Mendeliome v0.4714 OTOGL Zornitza Stark Phenotypes for gene: OTOGL were changed from to Deafness, autosomal recessive 84B, MIM# 614944
Mendeliome v0.4713 OTOGL Zornitza Stark Publications for gene: OTOGL were set to
Mendeliome v0.4712 OTOGL Zornitza Stark Mode of inheritance for gene: OTOGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4711 OTOGL Zornitza Stark reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122586, 23850727, 25829320, ​25719458, 28426234; Phenotypes: Deafness, autosomal recessive 84B, MIM# 614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 OTOGL Zornitza Stark gene: OTOGL was added
gene: OTOGL was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTOGL was set to Unknown
Mendeliome v0.0 OTOG Zornitza Stark gene: OTOG was added
gene: OTOG was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTOG was set to Unknown