1. Genes and Genomic Entities
  2. ACAN

ACAN

aggrecan
OMIM: 155760, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red ACAN in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis
Green ACAN in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800
    • Spondyloepimetaphyseal dysplasia, aggrecan type 61283
    • Spondyloepiphyseal dysplasia, Kimberley type 608361
    Green ACAN in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE
    Red ACAN in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spondyloepiphyseal dysplasia, Kimberley type, 608361
    • Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
    • Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800
    • Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
    • Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800
    • Disproportionate Short Stature
    Green ACAN in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813
    • SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361
    Red ACAN in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Green ACAN in Growth failure in early childhood


    Version 3.88
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM:165800 (AD)
    • ?Spondyloepiphyseal dysplasia, Kimberley type, OMIM:608361 (AD)
    • Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM:612813 (AR)
    Red ACAN in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spondyloepiphyseal dysplasia, Kimberley type, 608361
    • Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
    • Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800
    Green ACAN in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
    • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800
    • ?Spondyloepiphyseal dysplasia, Kimberley type, 608361