Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441; Meckel syndrome 1, MIM# 249000
Renal Ciliopathies and Nephronophthisis v0.267 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Renal Ciliopathies and Nephronophthisis v0.266 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.265 MKS1 Zornitza Stark changed review comment from: Well established ciliopathy gene, two families reported with BBS phenotype.; to: Well established ciliopathy gene, two families reported with BBS phenotype and renal cysts are a prominent feature of Meckel syndrome.
Renal Ciliopathies and Nephronophthisis v0.265 MKS1 Zornitza Stark edited their review of gene: MKS1: Changed publications: 18327255, 24608809, 17377820; Changed phenotypes: Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441, Meckel syndrome 1, MIM# 249000
Renal Ciliopathies and Nephronophthisis v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MKS1 was set to Unknown