Retinal disorders
Gene: COL18A1
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.Created: 7 Oct 2019, 4:02 p.m. | Last Modified: 7 Oct 2019, 4:07 p.m.
Panel Version: 1.175
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1, 267750
KnoblochCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch Syndrome Type I
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I, 267750 to Knobloch syndrome, type 1, OMIM:267750
Publications for gene: COL18A1 were set to
Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I to Knobloch Syndrome Type I, 267750
Gene: col18a1 has been classified as Green List (High Evidence).
Source NHS GMS was added to COL18A1.
This gene has been classified as Red List (Low Evidence).
COL18A1 was added to Posterior segment abnormalitiespanel. Sources: BRIDGE consortium (NIHRBR-RD)
COL18A1 was created by BRIDGE