Growth failure in early childhood
Gene: ACAN
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
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.
Phenotypes for gene: ACAN were changed from 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 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)
Source Expert Review Green was added to ACAN. Rating Changed from Red List (low evidence) to Green List (high evidence)
Publications for gene: ACAN were set to 24762113
Source Expert list was added to ACAN. Mode of inheritance for gene ACAN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added 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; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361 for gene: ACAN
gene: ACAN was added gene: ACAN was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: ACAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACAN were set to 24762113 Phenotypes for gene: ACAN were set to short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis