Inherited white matter disorders

Gene: COL4A1

Red List (low evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 27 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:02 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

A diffuse leukoencephalopathy is a well recognised feature of this condition.
Created: 23 Jul 2018, 8:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted


  • MIM#607595

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

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: col4a1 has been classified as Red List (Low Evidence).

23 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

COL4A1 was added to Inherited white matter disorders panel. Sources: Literature

23 Jul 2018, Gel status: 0


Zornitza Stark (Australian Genomics)

COL4A1 was created by Zornitza Stark