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  3. COL1A1
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Osteogenesis imperfecta

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 12 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 4:14 p.m.

Panel version: 1.19

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL1A1; Suggested initial gene rating: green
Created: 3 Apr 2019, 4:08 p.m.
Created: 3 Apr 2019, 4:08 p.m.

Panel version: 1.18

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

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

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

Green List (high evidence)

https://oi.gene.le.ac.uk/home.php?select_db=COL1A1
Created: 8 Dec 2015, noon
Variants in this gene exhibit both dominant negative and loss of function (haploinsufficiency) modes of pathogenicity.
Created: 26 Nov 2015, 1:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Created: 26 Nov 2015, 1:21 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type I, 166200
  • OI type II, 166210
  • OI type III, 259420
  • OI type IV, 166220
  • Ehlers-Danlos syndrome, type I, 130000
  • Ehlers-Danlos syndrome, type VIIA, 130060
  • {Osteoporosis}, 166710
  • Caffey disease, 114000
  • Osteogenesis Imperfecta, Dominant
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Osteogenesis Imperfecta, Type IV
  • Osteogenesis Imperfecta, Type II
  • Osteogenesis Imperfecta, Type III
  • Disproportionate Short Stature
OMIM
120150
Clinvar variants
Variants in COL1A1
Penetrance
Complete
Panels with this gene

History Filter Activity

13 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)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

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

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Eligibility statement prior genetic testing

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

COL1A1 was added to Osteogenesis Imperfecta panel. Sources: UKGTN

23 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

23 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Illumina TruGenome Clinical Sequencing Services

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen

23 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Expert