Genomics England
GMS Panels
Panels
Genes and Entities

ACAN

aggrecan
OMIM: 155760
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813, SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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)
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800, Spondyloepimetaphyseal dysplasia, aggrecan type 61283, Spondyloepiphyseal dysplasia, Kimberley type 608361