ACAN

aggrecan
OMIM: 155760, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red ACAN in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	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 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Red ACAN in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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 Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	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)