Cerebral vascular malformations
Gene: COL3A1After 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
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
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
Tag Q3_22_MOI was removed from gene: COL3A1. Tag Q3_22_expert_review was removed from gene: COL3A1.
Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q3_22_MOI tag was added to gene: COL3A1. Tag Q3_22_expert_review tag was added to gene: COL3A1.
Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos syndrome, type IV 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Source Yorkshire and North East GLH was added to COL3A1.
Source NHS GMS was added to COL3A1.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
COL3A1 was added to Cerebrovascular disorderspanel. Sources: UKGTN
COL3A1 was created by agardham