IUGR and IGF abnormalities

Gene: ACAN

Red List (low evidence)

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

3 reviews

Peter Clayton (University of Manchester)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: Skeletal dysplasia gene - will be added to forthcoming skeletal dysplasia panel
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