Leukodystrophy - adult onset
Gene: COL4A1

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 23 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

Typically on neuroimaging for COL4A1-related disorders are features of brain small-vessel disease
Created: 8 Sep 2023, 1:26 a.m. | Last Modified: 8 Sep 2023, 1:26 a.m.

Panel Version: 0.109

Phenotypes
brain small vessel disease 1 with or without ocular anomalies MONDO:0008289

Publications

20301768

Created: 8 Sep 2023, 1:26 a.m.
Last Modified: 8 Sep 2023, 1:26 a.m.
Panel version: 0.109

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773
Brain small vessel disease with or without ocular anomalies, 175780

OMIM

120130

Clinvar variants

Variants in COL4A1

Penetrance

None

Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COL4A1 was added gene: COL4A1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780

Leukodystrophy - adult onset Gene: COL4A1