Cerebral vascular malformations

Gene: COL3A1

Green List (high evidence)

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Clinical opinion that this is a cause of a relevant phenotype which can be missed clinically. Therefore support for inclusion from clinical expert (Vijeya Ganesan - GOSH / ICH) and GEL clinical team (Richard Scott & Helen Brittain)
Created: 29 Nov 2019, 7:01 p.m. | Last Modified: 29 Nov 2019, 7:01 p.m.
Panel Version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Comment when marking as ready: Vascular EDS is associated with intracranial aneurysms
Created: 15 Dec 2016, 9:25 a.m.
Associated with intracranial aneurysms -uncertain of frequency
Created: 14 Dec 2016, 4:04 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, type IV 130050

History Filter Activity

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to COL3A1.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL3A1.

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

COL3A1 was added to Cerebrovascular disorderspanel. Sources: UKGTN

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

COL3A1 was created by agardham