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  2. Osteogenesis imperfecta
  3. ACAN
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Osteogenesis imperfecta

Gene: ACAN

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

4 reviews

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

There is no evidence to support a causal role of this gene in this particular disease - Mild autosomal dominant type of spondyloepiphyseal dysplasia, designated SED type Kimberley (SEDK), described in a single family; also single literature report of heterozygous mutations in a mild skeletal dysplasia, which presents clinically as short stature with advanced bone age.
Created: 28 Sep 2015, 1:18 p.m.

Phenotypes
Spondyloepimetaphyseal dysplasia

Publications

Created: 28 Sep 2015, 1:18 p.m.

Panel version: 0

Details

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
OMIM
155760
Clinvar variants
Variants in ACAN
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ACAN was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACAN was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen