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  3. COL4A1
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Fetal anomalies

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 23 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microphthalmia, porencephaly reported.
Created: 28 Dec 2020, 9:50 p.m. | Last Modified: 20 Nov 2021, 4:22 a.m.
Panel Version: 0.578

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease with or without ocular anomalies, MIM#175780; Porencephaly

Publications

Created: 28 Dec 2020, 9:50 p.m.
Last Modified: 20 Nov 2021, 4:22 a.m.
Panel version: 0.578

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Reduced penetrance
Created: 9 Jan 2020, 10:31 p.m. | Last Modified: 9 Jan 2020, 10:31 p.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD; 2. Brain small vessel disease with or without ocular anomalies, 175780, AD; 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD; 4. ?Retinal arteries, tortuosity of, 180000, AD; 5. {Hemorrhage, intracerebral, susceptibility to}, 614519

Publications

Created: 9 Jan 2020, 10:31 p.m.
Last Modified: 9 Jan 2020, 10:31 p.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.7

History Filter Activity

20 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL4A1 were changed from PORENCEPHALY 1 to Brain small vessel disease with or without ocular anomalies, MIM#175780; Porenecphaly

20 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL4A1 were set to 30266093; 32732225; 30712878

20 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL4A1 was added gene: COL4A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A1 were set to 30266093; 32732225; 30712878 Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1