Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Additional findings_Paediatric v0.92 COCH Zornitza Stark Marked gene: COCH as ready
Additional findings_Paediatric v0.92 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.92 COCH Zornitza Stark Phenotypes for gene: COCH were changed from Deafness, non-syndromic, autosomal dominant to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094
Additional findings_Paediatric v0.91 COCH Zornitza Stark Publications for gene: COCH were set to
Additional findings_Paediatric v0.90 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.89 COCH Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721, 32939038, 32562050; Phenotypes: Deafness, autosomal dominant 9, MIM# 601369, Deafness, autosomal recessive 110, MIM# 618094; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.2 COCH Zornitza Stark Added phenotypes Deafness, non-syndromic, autosomal dominant for gene: COCH
Additional findings_Paediatric v0.0 COCH Zornitza Stark gene: COCH was added
gene: COCH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COCH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COCH were set to Deafness, non-syndromic, autosomal dominant