Inherited bleeding disorders

Gene: COL5A1

Green List (high evidence)

COL5A1 (collagen type V alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE project
Created: 9 Aug 2017, 1:11 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Bleeding disorder; Ehlers-Danlos syndrome, classic type

Publications

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

History Filter Activity

9 Aug 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL5A1 were set to 8950675; 25845371

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

9 Aug 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

COL5A1 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene

9 Aug 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

COL5A1 was created by BRIDGE