Inherited bleeding disorders

Gene: COL1A1

Green List (high evidence)

COL1A1 (collagen type I alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 13 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, 1:17 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; Caffey; Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 2; Osteogenesis imperfecta type 3; Osteogenesis imperfecta type 4

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Bleeding disorder
  • Ehlers-Danlos syndrome
  • Caffey
  • Osteogenesis imperfecta type 1
  • Osteogenesis imperfecta type 2
  • Osteogenesis imperfecta type 3
  • Osteogenesis imperfecta type 4
OMIM
120150
Clinvar variants
Variants in COL1A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL1A1 were set to 28625337; 3001313; 25845371

9 Aug 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

COL1A1 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)

COL1A1 was created by BRIDGE