Clefting
Gene: COL2A1The 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
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
STICKLER SYNDROME, TYPE I; STL1
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.
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
Mode of inheritance for gene COL2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Model of inheritance for gene COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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;
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
Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Publications for COL2A1 were set to 16752401; 17721977; 1677770
This gene has been classified as Green List (High Evidence).
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
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)
COL2A1 was added to Cleftingpanel. Sources: Eligibility statement prior genetic testing
Phenotypes for gene COL2A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome
COL2A1 was added to Cleftingpanel. Sources: UKGTN
COL2A1 was created by oniblock