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  2. Monogenic short stature
  3. ACAN
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Monogenic short stature

Gene: ACAN

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

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that ACAN should be included on the panel. Although most skeletal dysplasias are not included in this panel, an exception was made for ACAN because a recent study (Gkourogianni et al., 2017: PMID:27870580) has found ACAN variants to be a significant cause of short stature with normal or subtly abnormal skeletal survey. Therefore updated rating from Red to Green.
Created: 30 May 2019, 9:34 a.m.

Publications

Created: 30 May 2019, 9:34 a.m.

Copied from panel: Growth failure in early childhood v3.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: none.
Created: 14 May 2019, 1:25 p.m.
Created: 14 May 2019, 1:25 p.m.

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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)
OMIM
155760
Clinvar variants
Variants in ACAN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: ACAN was added gene: ACAN was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACAN were set to 24762113; 27870580 Phenotypes for gene: ACAN were set to 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)