Limb disorders

Gene: CHSY1

Comment on list classification: Rating as green as there are > 3 cases of patients with a phenotype relevant to this panel with a plausible disease causing variant.

Created: 6 Nov 2018, 1:55 p.m.

Associated with Temtamy preaxial brachydactyly syndrome in OMIM and Gene2Phenotype.
Li et al (2010)(PMID: 21129728) describe 5 consanguineous TPBS families with several different homozygous variants in CHSY1. Patients from all families showed phenotypes relevant to this panel including syndactyly and preaxial brachydactyly.

Tian et al (2010)(PMID:  21129727) also describe a consanguineous family with two children showing preaxial brachydactyly among other features.

There are > 3 families/cases with patients showing relevant phenotypes and homozygous variants in CHSY1.

Created: 6 Nov 2018, 1:54 p.m.

Genomics England Clinical team notes - Not primarily limb (Temtamy Preaxial brachydactyly syndrome). Already on skeletal dysplasia panel

Created: 9 Sep 2018, 5:15 p.m.

Comment on list classification: Rated Amber after review by Genomics England clinical team

Created: 9 Sep 2018, 5:14 p.m.

More than 3 unrelated cases reported for homozygous loss-of-function or missense variants in this gene and Temtamy preaxial brachydactyly syndrome (see publications).

Created: 9 Apr 2018, 10:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Temtamy preaxial brachydactyly syndrome 605282

Publications

• 21129728
• 21129727