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Hearing loss

Gene: COL11A1

Amber List (moderate evidence)

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

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: After consultation with the Genomics England clinical team it has been decided that this gene has sufficient cases with hearing loss to be promoted to green. Therefore this gene should be reviewed at the next GMS update.
Created: 24 Sep 2020, 6:40 p.m. | Last Modified: 24 Sep 2020, 6:40 p.m.
Panel Version: 2.94
PMID: 23967202 - Miyagawa et al 2013 - report 3 missense variants in Japanese hearing loss patients through targeted exome sequencing. 1 familial case shown with two affected siblings. They suggest the inheritance is autosomal dominant.
Created: 20 Sep 2020, 6:49 a.m. | Last Modified: 20 Sep 2020, 6:49 a.m.
Panel Version: 2.77
Comment on list classification: Promoting from red to amber. 1 case of non-syndromic hearing loss in a large pedigree. Other reports are from patients with Stickler/Marshal syndrome.
Created: 11 Sep 2020, 5:55 p.m. | Last Modified: 11 Sep 2020, 5:55 p.m.
Panel Version: 2.71
Associated with ?Deafness, autosomal dominant 37 #618533 (AD), Marshall syndrome #154780 and Stickler syndrome, type II #604841, and other phenotypes in OMIM.

PMID: 30245514 - Booth et al 2017 - report a four-generation family of European descent with post lingual progressive autosomal dominant nonsyndromic hearing loss. Exome sequencing identified an acceptor splice-site variant c.652-2A>C in the COL11A1 gene. This variant segregated with deafness in the 48 family members of the extended family who were tested.

PMID: 17236192 - Majava et al 2007 - report 10 patients with a normal COL2A1 screening result, whose phenotype was suggestive of either Stickler syndrome or Marshall syndrome and who were found to have heterozygous variants in COL11A1 (7 splice site mutations, 2 deletions, and 1 glycine substitution ). 6/10 had sensorineural hearing loss along with other features.
Created: 11 Sep 2020, 5:54 p.m. | Last Modified: 11 Sep 2020, 5:54 p.m.
Panel Version: 2.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

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

Details

History Filter Activity

24 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col11a1 has been classified as Amber List (Moderate Evidence).

20 Sep 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: COL11A1.

11 Sep 2020, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841Marshall syndrome, 154780{Lumbar disc herniation, susceptibility to}, 603932Fibrochondrogenesis, 228520; Sticklersyndrome,typeII,604841 to Stickler syndrome, type II, MIM#604841; Deafness, autosomal dominant 37, MIM#618533

11 Sep 2020, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: COL11A1 were set to

11 Sep 2020, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: COL11A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

11 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col11a1 has been classified as Amber List (Moderate Evidence).

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