ACAN

PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813, SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE
R-numbers: R147
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800, Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813, short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis, ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
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