Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Prepair 1000+ v1.275 FKTN Lilian Downie Marked gene: FKTN as ready
Prepair 1000+ v1.275 FKTN Lilian Downie Gene: fktn has been classified as Green List (High Evidence).
Prepair 1000+ v1.275 FKTN Lilian Downie Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) to Cardiomyopathy, dilated, 1X MIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4MIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 MIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MIM# 611588
Prepair 1000+ v1.274 FKTN Lilian Downie Publications for gene: FKTN were set to
Prepair 1000+ v1.248 FKTN Andrew Coventry reviewed gene: FKTN: Rating: ; Mode of pathogenicity: None; Publications: 9690476 19017726 20301385 28680109 17036286; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276, Cardiomyopathy, dilated, 1X MIM#611615; Mode of inheritance: None
Prepair 1000+ v1.3 FKTN Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) for gene: FKTN
Prepair 1000+ v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)