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Genetic epilepsy syndromes

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 8 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Knobloch syndrome type 1 - primarily charactarised by typical eye abnormalities. Mony cases on OMIM - no mention of seizures/epilepsy. Paisan-Ruiz et al, 2009 - 2 sisters India eith a complex neuro disorder - incl seizures. Hom 2bp del indentified. Charsar et al, 2017 - 2 brothers non-consang Palestinian family with intractable epilepsy - hom for the same 2bp del as before. Corbett et al, 2015 - family of 4 aff sisters of unrelated parents of Northern European descent with refractory seizures - compound het for a del and a nonsense variant. The 2bp del is the same s the one reported previously. No functional work on any of these cases but there does soeem to be a strong link between this 2 bpdel and an epilepsy phenotype.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Knobloch syndrome, 267750

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 truncating variants reported in 3 unrelated cases in which seizures are a phenotypic feature.
Created: 13 Nov 2018, 11:08 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype.
Created: 10 Aug 2018, 5:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Knobloch syndrome, type 1, MIM#267750

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Knobloch syndrome, type 1 267750
OMIM
120328
Clinvar variants
Variants in COL18A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to COL18A1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to COL18A1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

13 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COL18A1 were set to

13 Nov 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 267750

13 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: COL18A1 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to COL18A1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COL18A1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

COL18A1 was created by Sarah Leigh