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Retinal disorders v2.254 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I, 267750 to Knobloch syndrome, type 1, OMIM:267750
Retinal disorders v2.253 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to
Retinal disorders v1.224 COL18A1 Ivone Leong Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I to Knobloch Syndrome Type I, 267750
Retinal disorders v1.175 COL18A1 Catherine Snow changed review comment from: COL18A1 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: COL18A1 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.
Retinal disorders v1.175 COL18A1 Catherine Snow Classified gene: COL18A1 as Green List (high evidence)
Retinal disorders v1.175 COL18A1 Catherine Snow Gene: col18a1 has been classified as Green List (High Evidence).
Retinal disorders v1.174 COL18A1 Catherine Snow reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 COL18A1 Gavin Arno reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 COL18A1 Ivone Leong Source NHS GMS was added to COL18A1.
Retinal disorders COL18A1 Louise Daugherty classified COL18A1 as red
Retinal disorders COL18A1 BRIDGE consortium reviewed COL18A1