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Hearing loss

Gene: ACAN

Red List (low evidence)

ACAN (aggrecan)
EnsemblGeneIds (GRCh38): ENSG00000157766
EnsemblGeneIds (GRCh37): ENSG00000157766
OMIM: 155760, Gene2Phenotype
ACAN is in 8 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

Phenotypes
#165800:Osteochondritis dissecans, short stature, and early-onset osteoarthritis[ExostosesOsteoarthritisSpondyloarthrosis; Low intervertebral discs in thoracic and lumbar spineHigh ratio between sitting height and total height; Swelling in the elbowsSwelling in the kneesPain in the elbowsPain in the kneesLoss of movement in the elbowsLoss of movement in the kneesFlattening of the capitulum of the humerusBroadening of the head of the radiusLoose body in the kneeTibia vara; Numbness of the little finger and ulnar half of the ring fingerUlnar nerve entrapmentSlightly shorter metacarpal bones II, III, and IVBrachydactyly in the distal phalanx of the first and third digits]; #608361:Spondyloepiphyseal dysplasia, Kimberley type[Short stature, proportionate (< 5th percentile); Stocky body habitus; Spondyloepiphyseal dysplasiaDelayed bone age; Anterior osteophytesVertebral end plate irregularitySclerotic vertebral bodiesPlatyspondyly; Flat femoral capital epiphyses; Progressive osteoarthropathy (early-onset)Genu varaGenu valga]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACAN was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert