Cerebral vascular malformations
Gene: COL3A1EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 10 panels
3 reviews
Eleanor Williams (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.Created: 8 Feb 2023, 4:13 p.m. | Last Modified: 8 Feb 2023, 4:13 p.m.
Panel Version: 2.68
Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be considered for changing to Both mono and biallelic following GMS review.Created: 28 Sep 2022, 10:18 p.m. | Last Modified: 28 Sep 2022, 10:18 p.m.
Panel Version: 2.60
Louise Daugherty (Genomics England Curator)
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)
Comment when marking as ready: Vascular EDS is associated with intracranial aneurysmsCreated: 15 Dec 2016, 9:25 a.m.
Associated with intracranial aneurysms -uncertain of frequencyCreated: 14 Dec 2016, 4:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, type IV 130050
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- UKGTN
- Phenotypes
-
- Ehlers-Danlos syndrome, vascular type, OMIM:130050
- OMIM
- 120180
- Clinvar variants
- Variants in COL3A1
- Penetrance
- Complete
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Familial cerebral small vessel disease
- Cerebral vascular malformations
- Malformations of cortical development
- Pneumothorax - familial
History Filter Activity
Removed Tag, Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_MOI was removed from gene: COL3A1. Tag Q3_22_expert_review was removed from gene: COL3A1.
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_MOI tag was added to gene: COL3A1. Tag Q3_22_expert_review tag was added to gene: COL3A1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos syndrome, type IV 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to COL3A1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to COL3A1.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)COL3A1 was added to Cerebrovascular disorderspanel. Sources: UKGTN
Created
Alice Gardham (Genomics England)COL3A1 was created by agardham