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Hearing loss

Gene: COL11A1

Red List (low evidence)

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 18 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Single family reported with isolated deafness and splicing variant in this gene; deafness can be a feature of Stickler syndrome. Stickler syndrome is relatively common; phenotypic variability can make clinical diagnosis difficult; early diagnosis and proactive management have the potential to alter visual outcomes.
Created: 29 Jan 2020, 12:18 a.m. | Last Modified: 29 Jan 2020, 12:18 a.m.
Panel Version: 2.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stickler syndrome, type II, MIM#604841; Deafness, autosomal dominant 37, MIM#618533

Publications

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

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#154780:Marshall syndrome[Short stature; Flat midfaceMicrognathiaLong philtrum; Sensorineural hearing lossLow-set ears; MyopiaCongenital cataractsEsotropiaRetinal detachmentGlaucomaLens dislocationVitreoretinal degenerationHypertelorismEpicanthal folds; Short, depressed noseFlat nasal bridgeAnteverted nares; Thick lipsCleft palateRobin sequence; Prominent, protruding upper incisors; Calvarial thickeningAbsent frontal sinusesFalx, tentorial, and meningeal calcifications; Mild platyspondyly; Small iliac bonesCoxa valga; Small, irregular distal femoral epiphysesSmall, irregular proximal tibial epiphysesOutward radial bowingOutward ulnar bowing; Wide tufts of distal phalanges]; #228520:Fibrochondrogenesis 1[Short statureRhizomelic dwarfism; Large open anterior fontanelNormal head size; Round, flat faceLong philtrumFrontal bossing; Low-set earsMalformed ears; Protuberant eyesLarge corneae; Hypoplastic noseFlat nasal bridgeAnteverted nares; Cleft palateMicrostomia; Short neck; Patent foramen ovale; Small chest; Short, thin ribsAnterior and posterior rib cuppingLong, thin claviclesSmall scapulae; OmphaloceleProtuberant abdomen; Widely patent coronal sutureWidely patent sagittal suture; PlatyspondylyPosterior vertebral hypoplasiaSagittal cleft; Broad, hypoplastic ischiaOvoid iliaIrregular, flattened acetabula with medial spikesNarrow sacrosciatic notches; Rhizomelic limb shorteningShort, broad dumbbell-shaped tubular bones with irregular metaphysesShort fibulae; Small handsCamptodactylyFifth finger clinodactyly; Small feet; Hypoplastic fingernailsHypoplastic toenails; Hydrops; Stillborn; Disorganized growth plate cartilage]; #603932:{Lumbar disc herniation, susceptibility to}[<omim version=1.0><clinicalSynopsisList>]; #604841:Stickler syndrome, type II[Normal height; Flat midfaceMicrognathia; Sensorineural hearing loss; Myopia (onset before 6 years)CataractType 2 vitreous phenotype (irregularly thickened fiber bundles throughout vitreous cavity)GlaucomaRetinal detachment; Depressed nasal bridgeAnteverted nares; Cleft palatePierre-Robin sequenceBifid uvula; Mild spondyloepiphyseal dysplasia; Slender extremitiesJoint hypermobilityArthropathy (onset third-fourth decade); Long fingers]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert