Activity
07 Oct 2019
Retinal disorders v1.175
CLN6
Catherine Snow changed review comment from: CLN6 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN6 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
07 Oct 2019
Retinal disorders v1.171
CLN6
Catherine Snow Phenotypes for gene: CLN6 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 6 601780
07 Oct 2019
Retinal disorders v1.170
CLN6
Catherine Snow Mode of inheritance for gene: CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Oct 2019
Retinal disorders v1.169
CLN6
Catherine Snow Classified gene: CLN6 as Green List (high evidence)
07 Oct 2019
Retinal disorders v1.169
CLN6
Catherine Snow Gene: cln6 has been classified as Green List (High Evidence).
07 Oct 2019
Retinal disorders v1.168
CLN6
Catherine Snow reviewed gene: CLN6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Aug 2019
Retinal disorders v1.159
CLN6
Gavin Arno reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Apr 2019
Retinal disorders v1.137
CLN6
Ivone Leong Source NHS GMS was added to CLN6.