Monogenic hearing loss
Gene: COL11A2
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 17 Feb 2016, 12:51 p.m.
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
Comment on list classification: Evidence from OMIM of biallelic as well?Created: 29 Jan 2016, 3:08 p.m.
This gene has been classified as Green List (High Evidence).
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
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
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
Mode of inheritance for COL11A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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