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Clefting

Gene: COL2A1

Green List (high evidence)
COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Created: 3 Aug 2022, 3:21 p.m. | Last Modified: 3 Aug 2022, 3:21 p.m.
Panel Version: 2.69
Created: 3 Aug 2022, 3:21 p.m.
Last Modified: 3 Aug 2022, 3:21 p.m.
Panel version: 2.69

Eleanor Williams (Genomics England Curator)

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 5 Mar 2022, 5:14 p.m. | Last Modified: 5 Mar 2022, 5:14 p.m.
Panel Version: 2.65
Created: 5 Mar 2022, 5:14 p.m.
Last Modified: 5 Mar 2022, 5:14 p.m.
Panel version: 2.65

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
STICKLER SYNDROME, TYPE I; STL1

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Louise Daugherty (Genomics England Curator)

Comment on list classification: Promoted gene from Red to Green status due to expert review and evidence for more than three cases.
Created: 19 Dec 2016, 5:06 p.m.
Comment on phenotypes: Added more phenotype terms for disorder from OMIM and from expert reviewer.
Created: 19 Dec 2016, 5:03 p.m.
Created: 19 Dec 2016, 5:03 p.m.

Panel version: 0.61

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stckler syndrome (cleft palate; micrognathia, vitreo-retinal anomalies; severe myopia; joint problems; hearing loss)

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

Created: 8 Dec 2016, 10:22 a.m.

Panel version: 0.33

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • STICKLER SYNDROME, TYPE I (STL1), 108300
  • Orofacial Clefting with skeletal features
  • Stickler Syndrome
  • Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss)
  • Stickler sydrome, type I, non syndromic ocular
  • STICKLER SYNDROME, VITREOUS TYPE 1
  • STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE
  • ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM
  • STICKLER SYNDROME, TYPE I
  • STL1
  • Cleft palate
OMIM
120140
Clinvar variants
Variants in COL2A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Mar 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene COL2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to COL2A1. Panel: Clefting Phenotypes for gene COL2A1 were set to STICKLER SYNDROME, TYPE I (STL1), 108300, Orofacial Clefting with skeletal features, Stickler Syndrome, Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss), Stickler sydrome, type I, non syndromic ocular, STICKLER SYNDROME, VITREOUS TYPE 1, STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE, ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM, STICKLER SYNDROME, TYPE I, STL1, Cleft palate

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jan 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene COL2A1 were set to STICKLER SYNDROME, TYPE I (STL1), 108300;Orofacial Clefting with skeletal features;Stickler Syndrome; Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss);Stickler sydrome, type I, non syndromic ocular;STICKLER SYNDROME, VITREOUS TYPE 1;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM;

24 Jan 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene COL2A1 were set to Orofacial Clefting with skeletal features;Stickler Syndrome; Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss);Stickler sydrome, type I, non syndromic ocular;STICKLER SYNDROME, VITREOUS TYPE 1;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM;STICKLER SYNDROME, TYPE I; STL1

19 Jan 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Jan 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene COL2A1 were set to Orofacial Clefting with skeletal features;Stickler Syndrome; Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss);Stickler sydrome, type I, non syndromic ocular;STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR;STICKLER SYNDROME, ATYPICAL;STICKLER SYNDROME, VITREOUS TYPE 1;STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE;AOM;STICKLER SYNDROME, TYPE I;STL1

19 Dec 2016, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL2A1 were set to 16752401; 17721977; 1677770

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

19 Dec 2016, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL2A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome; Stckler syndrome (cleft palate; micrognathia, vitreo-retinal anomalies; severe myopia; joint problems; hearing loss); Stickler sydrome, type I, non syndromic ocular; STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR; STICKLER SYNDROME, ATYPICAL; STICKLER SYNDROME, VITREOUS TYPE 1; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM; STICKLER SYNDROME, TYPE I; STL1

19 Dec 2016, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL2A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome; Stckler syndrome (cleft palate; micrognathia, vitreo-retinal anomalies; severe myopia; joint problems; hearing loss)

18 Aug 2016, Gel status: 1

Upload gene information

Olivia Niblock (Genomics England Curator)

COL2A1 was added to Cleftingpanel. Sources: Eligibility statement prior genetic testing

18 Aug 2016, Gel status: 1

Set Phenotypes

Olivia Niblock (Genomics England Curator)

Phenotypes for gene COL2A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome

18 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

COL2A1 was added to Cleftingpanel. Sources: UKGTN

18 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

COL2A1 was created by oniblock