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Genetic epilepsy syndromes

Gene: COL4A1

Green List (high evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 30 panels

8 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)

AD Porencephaly 1 features include porencephaly, hemiplegia and seizures. Gould et al,2005 - two unrelated families both dfound to have het missense variants. Both mutations changed conserved Gly residues within the conserved Gly-X-Y repeats in the triple helical domain. Yoneda et al, 2013 - identified mutations in 10/61 patients with porencephaly who didn't have mutations in COLA2 and in 5/10 additional patients with schizenphaly (Japanese). 9 mutations occures at highly conserved Gly residues as before.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinal arteries tortuosity of 180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 607595; Porencephaly, 175780; Schizencephaly 269160

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 variants reported in unrelated cases in which seizures are a phenotypic feature.
Created: 13 Nov 2018, 11:39 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a reported feature.
Created: 10 Aug 2018, 5:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease with or without ocular anomalies, MIM#607595

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

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

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 COL4A1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to COL4A1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a reported featur

13 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: col4a1 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: col4a1 has been classified as Green List (High Evidence).

13 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COL4A1 were set to

13 Nov 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 607595; Porencephaly 1 175780; Schizencephaly 269160

13 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to COL4A1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to COL4A1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COL4A1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

COL4A1 was created by Sarah Leigh