Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.8158 KLHL7 Zornitza Stark Marked gene: KLHL7 as ready
Mendeliome v0.8158 KLHL7 Zornitza Stark Gene: klhl7 has been classified as Green List (High Evidence).
Mendeliome v0.8158 KLHL7 Zornitza Stark Phenotypes for gene: KLHL7 were changed from to PERCHING syndrome (MIM#617055); Retinitis pigmentosa 42 (MIM#612943)
Mendeliome v0.8157 KLHL7 Zornitza Stark Publications for gene: KLHL7 were set to
Mendeliome v0.8156 KLHL7 Zornitza Stark Mode of inheritance for gene: KLHL7 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.8145 KLHL7 Ain Roesley reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953236, 30300710, 31856884; Phenotypes: PERCHING syndrome (MIM#617055), Retinitis pigmentosa 42 (MIM#612943); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KLHL7 was set to Unknown