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Monogenic hearing loss v2.226 COL2A1 Eleanor Williams Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300 to Stickler syndrome, type I, OMIM:108300
Monogenic hearing loss v2.225 COL2A1 Eleanor Williams Tag for-review was removed from gene: COL2A1.
Monogenic hearing loss v2.221 COL2A1 Eleanor Williams commented on gene: COL2A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.220 COL2A1 Eleanor Williams Source Expert Review Green was added to COL2A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.94 COL2A1 Eleanor Williams Tag for-review tag was added to gene: COL2A1.
Monogenic hearing loss v2.94 COL2A1 Eleanor Williams changed review comment from: Comment on list classification: Upgrading from red to amber. Should be reviewed by the GMS as to whether it is appropriate to make green.; to: Comment on list classification: Upgrading from red to amber. Should be reviewed by the GMS as to whether it is appropriate to make green. Hearing loss is less predominant in individuals with variants in this gene than in some other Stickler syndrome genes, however if hearing loss is picked up and Stickler syndrome is identified early then eye related symptoms may be treatable.
Monogenic hearing loss v2.94 COL2A1 Eleanor Williams edited their review of gene: COL2A1: Changed rating: GREEN
Monogenic hearing loss v2.94 COL2A1 Eleanor Williams changed review comment from: Associated with Stickler syndrome, type I #108300 (AD) in OMIM.

PMID: 23110709 - Acke et al 2012 - review the literature to give an overview of hearing loss in Stickler syndrome, correlated with the genotype. 313 patients from 102 families were reviewed. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%).

PMID: 27408751 - Kondo et al 2016 - report 21 cases (some familial, most sporadic) with COL2A1 variants. 4/21 showed hearing loss.

PMID: 20179744 - Hoornaert et al 2010 - identified 77 different heterozygous COL2A1 mutations in 100 affected individuals out of a group of 188 individuals referred with a potential diagnosis of Stickler syndrome. 30% of COL2A1-variant positive patients had sensorineural hearing loss. However, over a higher percentage (50%) of patients without a COL2A1 mutation have sensorineural hearing loss.; to: Associated with Stickler syndrome, type I #108300 (AD) in OMIM.

PMID: 23110709 - Acke et al 2012 - review the literature to give an overview of hearing loss in Stickler syndrome, correlated with the genotype. 313 patients from 102 families were reviewed. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%).

PMID: 27408751 - Kondo et al 2016 - report 21 cases (some familial, most sporadic) with COL2A1 variants. 4/21 (20%) showed hearing loss.

PMID: 20179744 - Hoornaert et al 2010 - identified 77 different heterozygous COL2A1 mutations in 100 affected individuals out of a group of 188 individuals referred with a potential diagnosis of Stickler syndrome. 30% of COL2A1-variant positive patients had sensorineural hearing loss. However, over a higher percentage (50%) of patients without a COL2A1 mutation have sensorineural hearing loss.
Monogenic hearing loss v2.89 COL2A1 Eleanor Williams Classified gene: COL2A1 as Amber List (moderate evidence)
Monogenic hearing loss v2.89 COL2A1 Eleanor Williams Added comment: Comment on list classification: Upgrading from red to amber. Should be reviewed by the GMS as to whether it is appropriate to make green.
Monogenic hearing loss v2.89 COL2A1 Eleanor Williams Gene: col2a1 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v2.88 COL2A1 Eleanor Williams Mode of inheritance for gene: COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v2.87 COL2A1 Eleanor Williams Publications for gene: COL2A1 were set to
Monogenic hearing loss v2.86 COL2A1 Eleanor Williams Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300Kniest dysplasia, 156550Achondrogenesis, type II or hypochondrogenesis, 200610SED congenita, 183900SMED Strudwick type, 184250Epiphyseal dysplasia, multiple, with myopia and deafness, 132450Spondyloperipheral dysplasia, 271700SED, Namaqualand typeOsteoarthritis with mild chondrodysplasia, 604864Vitreoretinopathy with phalangeal epiphyseal dysplasiaPlatyspondylic skeletal dysplasia, Torrance type, 151210Otospondylomegaepiphyseal dysplasia, 215150Avascular necrosis of the femoral head, 608805Legg-Calve-Perthes disease, 150600Stickler sydrome, type I, nonsyndromic ocular, 609508Czech dysplasia, 609162; ticklersyndrome,typeI,108300Kniestdysplasia,156550Achondrogenesis,typeIIorhypochondrogenesis,200610SEDcongenita,183900 to Stickler syndrome, type I, 108300
Monogenic hearing loss v2.74 COL2A1 Eleanor Williams edited their review of gene: COL2A1: Changed rating: AMBER; Changed publications: 23110709, 27408751, 20179744; Changed phenotypes: Stickler syndrome, type I, 108300; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v2.74 COL2A1 Eleanor Williams commented on gene: COL2A1
Monogenic hearing loss v2.4 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27408751; Phenotypes: Stickler syndrome, type I, MIM108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes