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Limb disorders

Gene: CHSY1

Green List (high evidence)

CHSY1 (chondroitin sulfate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000131873
EnsemblGeneIds (GRCh37): ENSG00000131873
OMIM: 608183, Gene2Phenotype
CHSY1 is in 12 panels

2 reviews

Eleanor Williams (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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

Details

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: More than 3 unrelated cases re

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: chsy1 has been classified as Green List (High Evidence).

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: chsy1 has been classified as Green List (High Evidence).

9 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: chsy1 has been classified as Amber List (Moderate Evidence).

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHSY1 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CHSY1 was created by Ellen McDonagh