Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.6412 MKKS Zornitza Stark Marked gene: MKKS as ready
Intellectual disability syndromic and non-syndromic v0.6412 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6412 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to McKusick-Kaufman syndrome, MIM# 236700; Bardet-Biedl syndrome 6, MIM# 605231; Retinitis pigmentosa
Intellectual disability syndromic and non-syndromic v0.6411 MKKS Zornitza Stark Publications for gene: MKKS were set to
Intellectual disability syndromic and non-syndromic v0.6410 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MKKS Chirag Patel reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10973251, 10802661, 26900326; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700, Bardet-Biedl syndrome 6, MIM# 605231, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MKKS was set to Unknown