07 Apr 2021
Retinal disorders v2.174
CLN5
Sarah Leigh Phenotypes for gene: CLN5 were changed from Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
07 Oct 2019
Retinal disorders v1.175
CLN5
Catherine Snow changed review comment from: CLN5 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN5 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 v1.168
CLN5
Catherine Snow Classified gene: CLN5 as Green List (high evidence)
07 Oct 2019
Retinal disorders v1.168
CLN5
Catherine Snow Gene: cln5 has been classified as Green List (High Evidence).
07 Oct 2019
Retinal disorders v1.167
CLN5
Catherine Snow Mode of inheritance for gene: CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Oct 2019
Retinal disorders v1.166
CLN5
Catherine Snow Phenotypes for gene: CLN5 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731
07 Oct 2019
Retinal disorders v1.165
CLN5
Catherine Snow reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Aug 2019
Retinal disorders v1.159
CLN5
Gavin Arno reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Apr 2019
Retinal disorders v1.137
CLN5
Ivone Leong Source NHS GMS was added to CLN5.