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Hearing loss

Gene: COL11A2

Green List (high evidence)

COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 16 panels

4 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 17 Feb 2016, 12:51 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#184840:Stickler syndrome, type III[Midface hypoplasia; Sensorineural hearing loss; No ocular symptoms; Anteverted nares; Pierre-Robin sequenceCleft palate; Epiphyseal dysplasia; Mild platyspondyly; Joint painPremature osteoarthritisLarge epiphyses]; #215150:Otospondylomegaepiphyseal dysplasia[Short stature; Small jawMidface hypoplasia; Sensorineural hearing lossMixed hearing loss; No ocular symptoms; Anteverted naresBulbous nasal tip; Cleft palatePierre-Robin sequence; Recurrent pulmonary infections; Epiphyseal dysplasia; Mandibular hypoplasia; Increased lumbar lordosisVertebral coronal clefts (newborn)Enlarged odontoid (childhood)Platyspondyly (childhood)Anterior vertebral wedging (childhood); Square iliac wings; Premature osteoarthritisJoint contracturesJoint painsEnlarged JointsDumbbell-shaped femurs (newborn)Short long bonesAbsent-small capital femoral epiphyses (infancy-early childhood)Wide flat epiphysesMetaphyseal flaring; Short handsShort fingersShort metacarpalsProminent interphalangeal joints; Large tarsal bones]; #277610:Weissenbacher-Zweymuller syndrome[Normal adult height; Micrognathia; Sensorineural hearing loss; HypertelorismProtruding eyes; Depressed nasal bridgeSnub nose; Cleft palatePierre-Robin sequence; Vertebral coronal clefts; Bulbous deformity of ischial and pubic boneBroad iliac wings; Rhizomelic limb shortening (infancy)Dumbbell widening of long bone metaphyses, especially femurs and humeriEnlarged epiphyses; Delayed psychomotor development]; #601868:Deafness, autosomal dominant 13[Congenital non-progressive, non-syndromic sensorineural hearing loss (greater mid frequency than low- or high-frequency loss)]; #609706:Deafness, autosomal recessive 53[Hearing loss, nonprogressive profound, prelingual]; #614524:Fibrochondrogenesis 2[Midface hypoplasiaMicrognathia; Small noseAnteverted nares; Respiratory compromise due to small size of thorax; Small thoraxBell-shaped thorax; Short ribsMetaphyseal cupping of ribs; Protuberant abdomen; Relatively large skull; PlatyspondylyPosteriorly narrowed vertebral bodiesDelayed ossification of the cervical vertebral bodies (in some patients); Hypoplastic ischiaDelayed ossification of ischiaHypoplastic iliaHypoplastic pubisDelayed ossification of pubis; Shortening of the long bonesWidened metaphyses]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence from OMIM of biallelic as well?
Created: 29 Jan 2016, 3:08 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • #184840:Stickler syndrome, type III
  • #215150:Otospondylomegaepiphyseal dysplasia
  • #277610:Weissenbacher-Zweymuller syndrome
  • #601868:Deafness, autosomal dominant 13
  • #609706:Deafness, autosomal recessive 53
  • #614524: Fibrochondrogenesis 2
  • Nonsyndromic Hearing Loss, Dominant
OMIM
120290
Clinvar variants
Variants in COL11A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL11A2 were set to hearing loss; #184840:Stickler syndrome, type III; #215150:Otospondylomegaepiphyseal dysplasia; #277610:Weissenbacher-Zweymuller syndrome; #601868:Deafness, autosomal dominant 13; #609706:Deafness, autosomal recessive 53; #614524: Fibrochondrogenesis 2; Nonsyndromic Hearing Loss, Dominant

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL11A2 were set to hearing loss; #184840:Stickler syndrome, type III; #215150:Otospondylomegaepiphyseal dysplasia; #277610:Weissenbacher-Zweymuller syndrome; #601868:Deafness, autosomal dominant 13; #609706:Deafness, autosomal recessive 53; #614524:Fibrochondrogenesis 2; Nonsyndromic Hearing Loss, Dominant

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL11A2 were set to PMID: 10581026; 10677296; 11289713; 14234962; 15372529; 15558753; 16033917; 16609882; 16637051; 1906426; 22246659; 2321911; 25633957; 2591970; 2760050; 7559422; 7833911; 7859284; 8431643; 8486632; 8838804; 9188673; 9506662; 9805126

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL11A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert