12 Apr 2022
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
12 Apr 2022
Retinal disorders v2.253
COL18A1
Sarah Leigh Publications for gene: COL18A1 were set to
19 Nov 2019
Retinal disorders v1.224
COL18A1
Ivone Leong Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I to Knobloch Syndrome Type I, 267750
07 Oct 2019
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.
07 Oct 2019
Retinal disorders v1.175
COL18A1
Catherine Snow Classified gene: COL18A1 as Green List (high evidence)
07 Oct 2019
Retinal disorders v1.175
COL18A1
Catherine Snow Gene: col18a1 has been classified as Green List (High Evidence).
07 Oct 2019
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
30 Aug 2019
Retinal disorders v1.159
COL18A1
Gavin Arno reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Apr 2019
Retinal disorders v1.137
COL18A1
Ivone Leong Source NHS GMS was added to COL18A1.
17 Jan 2017
Retinal disorders
COL18A1
Louise Daugherty classified COL18A1 as red
17 Jan 2017
Retinal disorders
COL18A1
BRIDGE consortium reviewed COL18A1