Limb disorders
Gene: COL2A1Comment on list classification: 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1Created: 6 Nov 2018, 2:10 p.m.
Associated with many conditions in OMIM including Spondyloperipheral dysplasia.
Zabel et al. (1996) (PMID: 8723097) described a 5-bp duplication in exon 51 of the COL2A1 gene resulting in a frameshift in a patient with spondyloperipheral dysplasia. The patient’s phenotypes included Brachydactyly and short toes.
Zankl et al. (2004) (PMID: 15316962) identified heterozygous truncating mutations in the COL2A1 gene in two patients with a phenotype similar to that described by Zabel et al. (1996). Both developed brachydactyly type E like changes of fingers and toes in childhood. In both individuals, heterozygosity for novel, distinct mutations in COL2A1 were found.
Summary - 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1.Created: 6 Nov 2018, 2:10 p.m.
Genomics England clinical team notes - Not primarily limb. On clefting, skeletal dysplasia panels.Created: 9 Sep 2018, 5:39 p.m.
Comment on list classification: Rated Amber after review by Genomics England clinical teamCreated: 9 Sep 2018, 5:33 p.m.
Comment on list classification: Green in the unexplained skeletal dysplasia panel version 1.99.Created: 9 Apr 2018, 10:37 a.m.
Comment on phenotypes: Spondyloperipheral dysplasia 271700 (short ulna).Created: 9 Apr 2018, 10:34 a.m.
PMID: 14729840 - a heterozygous missense variant in this gene was identified in a sporadic case of Torrance type of platyspondylic skeletal dysplasia, and a de novo 4bp deletion reported in a case with Kniest-like dysplasia. PMID: 15266623 identified a heterozygous variant in a girl with Czech dysplasia (PMID: 17726487 suggested the patient had spondyloperipheral dysplasia).Created: 9 Apr 2018, 10:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Platyspondylic skeletal dysplasia, Torrance type 151210
Publications
Ellen McDonagh: PMID: 14729840 - a heterozygou
Gene: col2a1 has been classified as Green List (High Evidence).
Publications for gene: COL2A1 were set to 14729840; 15266623
Gene: col2a1 has been classified as Green List (High Evidence).
Gene: col2a1 has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for COL2A1 were set to Platyspondylic skeletal dysplasia, Torrance type 151210; Achondrogenesis, type II or hypochondrogenesis 200610; Spondyloperipheral dysplasia 271700
Phenotypes for COL2A1 were set to Platyspondylic skeletal dysplasia, Torrance type 151210; Achondrogenesis, type II or hypochondrogenesis 200610
COL2A1 was added to Limb disorders panel. Sources: Other
COL2A1 was created by Ellen McDonagh