IUGR and IGF abnormalities
Gene: ACAN
ACAN (aggrecan)
EnsemblGeneIds (GRCh38): ENSG00000157766
EnsemblGeneIds (GRCh37): ENSG00000157766
OMIM: 155760, Gene2Phenotype
ACAN is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000157766
EnsemblGeneIds (GRCh37): ENSG00000157766
OMIM: 155760, Gene2Phenotype
ACAN is in 8 panels
3 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Richard Scott (Genomics England Curator)
Comment on list classification: Skeletal dysplasia gene - will be added to forthcoming skeletal dysplasia panelCreated: 2 May 2016, 8:42 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis
- OMIM
- 155760
- Clinvar variants
- Variants in ACAN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
2 May 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
2 May 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)ACAN was added to IUGR and IGF abnormalitiespanel. Sources: Literature
23 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)ACAN was created by PhilMurray