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Retinal disorders

Gene: COL18A1

Green List (high evidence)

COL18A1 (collagen type XVIII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000182871
EnsemblGeneIds (GRCh37): ENSG00000182871
OMIM: 120328, Gene2Phenotype
COL18A1 is in 9 panels

3 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

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

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Knobloch
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Knobloch Syndrome Type I

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Knobloch Syndrome Type I, 267750
OMIM
120328
Clinvar variants
Variants in COL18A1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I to Knobloch Syndrome Type I, 267750

7 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: col18a1 has been classified as Green List (High Evidence).

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to COL18A1.

17 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Jan 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

COL18A1 was created by BRIDGE

17 Jan 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

COL18A1 was added to Posterior segment abnormalitiespanel. Sources: BRIDGE consortium (NIHRBR-RD)