Ehlers Danlos syndromes

Gene: CHST14

Green List (high evidence)

CHST14 (carbohydrate sulfotransferase 14)
EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 18 panels

9 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, musculocontractural type 1, 601776;EDSMC1;Musculocontractural EDS;mcEDS-CHST14;Adducted thumb-club foot syndrome (ATCS);EDS Kosho type (EDS-KT);D4ST1-deficient EDS
Created: 18 Mar 2021, 1:36 p.m. | Last Modified: 18 Mar 2021, 1:36 p.m.
Panel Version: 2.17

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CHST14; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

From Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225):
Recently, a number of rare autosomal recessive entities with distinct molecular and biochemical abnormalities that clinically overlap with kEDS have been described; kEDS due to PLOD1 mutations, kEDS due to FKBP14 mutations, the Brittle cornea syndrome (BCS) (ZNF469 and PRDM5), the spondylodysplastic form of EDS caused by SLC39A13 mutations (previously called spondylocheirodysplastic EDS), and musculocontractural EDS (CHST14 and DSE)
Created: 18 Apr 2017, 1:17 p.m.
Comment on publications: Added publications to support number of cases to date with Musculocontractural EDS (mcEDS-CHST14). Currently in the literature there are 39 cases (18 females, 21 males) from 26 unrelated families all with biallelic CHST14 variants; Dundar et al., 1997 (PMID:9084938), Muller et al., 2013 (PMID:23704329), Sonoda and Kouno, 2000 (PMID:10766984), Dunear et al., 2001 (PMID:11666007), Janecke et al., 2001 (PMID:11370633),Yasui et al., 2003 (PMID:12508273), Kosho et al., 2005 (PMID:16158441), Kosho et al., 2010 (PMID:20503305), Malfait et al., 2010 (PMID:20842734), Shimizu et al., 2011 (21744491), Mendoza-Londono et al., 2012 (PMID:22581468), Winters et al., 2012 (PMID:22987394), Voermans et al., 2012 (PMID:22407744), Syx et al., 2015 (PMID: 25703627), Janecke et al., 2016 (PMID:26373698),Mochida et al., 2016 (PMID:26872206)
Created: 6 Apr 2017, 12:20 p.m.
This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=CHST14.
Created: 6 Apr 2017, 8:53 a.m.
Comment on publications: Added publication for The Ehlers–Danlos Syndromes, rare types (PMID:28306225).
Created: 6 Apr 2017, 8:52 a.m.
In relation to the EDS pathogenetic scheme, CHST14 belongs to 'Disorders of glycosaminoglycan biosynthesis'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.
Created: 6 Apr 2017, 8:39 a.m.
Comment on phenotypes: synonyms from Orphanet and PMID:28306229
Created: 4 Apr 2017, 3:16 p.m.
This is a rare recessive form of EDS
Created: 30 Mar 2017, 11:24 a.m.
Comment on phenotypes: Updated phenotype based on 2017 International Classification of the Ehlers–Danlos Syndromes. PMID:28306229
Created: 30 Mar 2017, 8:44 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene was added by expert and rated green. Added to the panel as green due to expert review and additional evidence; it is a confirmed DD gene for Ehlers-Danlos syndrome musculocontractural type and there are more than 3 cases/families reported in OMIM from different ethnicities and for different reported pathogenic variants.
Created: 6 Jun 2016, 3:19 p.m.

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen Thomas (Genomics England Curator)

Comment on list classification: Rare recessive form of EDS
Created: 8 Apr 2016, 3:18 p.m.

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CHST14 were changed from Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS; mcEDS-CHST14; Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT); D4ST1-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CHST14. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

18 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS;mcEDS-CHST14; Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT); D4ST1-deficient EDS

6 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for CHST14 were set to 28306229; 28306225; 9084938; 23704329;10766984;11666007;11370633;12508273;16158441;20503305;20842734;21744491;22581468;22987394;22407744;25703627;26373698;26872206

6 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for CHST14 were set to 28306229;28306225;

4 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS (mcEDS-CHST14); Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT);D4ST1-deficient EDS

4 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS (mcEDS-CHST14); Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT)

4 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS (mcEDS-CHST14); Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT)

4 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1;Musculocontractural EDS (mcEDS-CHST14)

4 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type 1, 601776; Musculocontractural EDS (mcEDS-CHST14)

4 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type 1, 601776; Ehlers-Danlos syndrome, musculocontractural type 1; Musculocontractural EDS (mcEDS-CHST14)

4 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type, 601776; Ehlers-Danlos syndrome, musculocontractural type 1; Musculocontractural EDS (mcEDS-CHST14)

4 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type, 601776; Ehlers-Danlos syndrome, musculocontractural type 1; Musculocontractural EDS (mcEDS-CHST14)

29 Mar 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for CHST14 were set to 28306229

29 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHST14 were set to Ehlers Danlos syndrome, musculocontractural type , 601776 ; Ehlers-Danlos syndrome, musculocontractural type 1;Musculocontractural EDS (mcEDS)

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CHST14 was added to Ehlers-Danlos syndromespanel. Source: Expert Review CHST14 was added to Ehlers-Danlos syndromespanel. Source: Literature

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHST14 was created by ellenmcdonagh

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CHST14 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Green