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Fetal anomalies

Gene: ACAN

Green List (high evidence)
ACAN (aggrecan)
EnsemblGeneIds (GRCh38): ENSG00000157766
EnsemblGeneIds (GRCh37): ENSG00000157766
OMIM: 155760, Gene2Phenotype
ACAN is in 5 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Spondyloepimetaphyseal dysplasia, aggrecan type is biallelic and associated with more severe skeletal phenotype likely to be detectable in fetal period.

Patients with SSOAD (monoallelic) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Patients born with low-normal birth length. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations.
Created: 27 Jan 2022, 12:24 a.m. | Last Modified: 27 Jan 2022, 12:24 a.m.
Panel Version: 0.2823

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800

Publications

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

Created: 27 Jan 2022, 12:24 a.m.
Last Modified: 27 Jan 2022, 12:24 a.m.
Panel version: 0.2823

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800
OMIM
155760
Clinvar variants
Variants in ACAN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACAN were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY to Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800

27 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACAN were set to

27 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: acan has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACAN was added gene: ACAN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACAN were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY