Limb disorders
Gene: CHSY1Comment 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 panelCreated: 9 Sep 2018, 5:15 p.m.
Comment on list classification: Rated Amber after review by Genomics England clinical teamCreated: 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
Ellen McDonagh: More than 3 unrelated cases re
Gene: chsy1 has been classified as Green List (High Evidence).
Gene: chsy1 has been classified as Green List (High Evidence).
Gene: chsy1 has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
CHSY1 was added to Limb disorders panel. Sources: Other
CHSY1 was created by Ellen McDonagh