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Skeletal dysplasia

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

neonatal osteosclerotic dysplasias gp of SD, OI and decreasing bone density gp of SD. Many missense/splice variants reported in OI, primarily affecting Gly residues, type 1 primarily haploinsufficiency. EDS - missense variants in first 90 residues of helix. Caffey - R836C in all cases. Green for all phenotypes.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

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

Phenotypes
Caffey disease 114000; Ehlers-Danlos syndrome, classic 130000; Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL1A1; Initial rating suggestion: Green or OI/EDS
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:28 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 13 Jul 2016, 8:14 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Caffey disease 114000; Ehlers-Danlos syndrome, classic 130000; Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type I 166200
  • Caffey disease 114000
  • Osteogenesis imperfecta, type III 259420
  • Osteogenesis imperfecta, type II 166210
  • Ehlers-Danlos syndrome, type VIIA 130060
  • Ehlers-Danlos syndrome, classic 130000
  • Osteogenesis imperfecta, type IV 166220
OMIM
120150
Clinvar variants
Variants in COL1A1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Osteogenesis imperfecta, type I 166200; Caffey disease 114000; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type II 166210; Ehlers-Danlos syndrome, type VIIA 130060; Ehlers-Danlos syndrome, classic 130000; Osteogenesis imperfecta, type IV 166220 for gene: COL1A1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL1A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

13 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL1A1 were set to Caffey disease 114000; Ehlers-Danlos syndrome, classic 130000; Ehlers-Danlos syndrome, type VIIA 130060; Osteogenesis imperfecta, type I 166200; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: UKGTN COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Eligibility statement prior genetic testing COL1A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

COL1A1 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL1A1 was created by sleigh