CHST14

Red CHST14 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS

Green CHST14 in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Literature
• Emory Genetics Laboratory

Phenotypes

• Ehlers-Danlos syndrome, musculocontractural type 1 601776
• CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

Green CHST14 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

Sources

• Expert Review Green
• BRIDGE consortium (NIHRBR-RD)

Phenotypes

• Ehlers-Danlos syndrome, musculocontractural type

Red CHST14 in Thoracic aortic aneurysm or dissection (GMS)

Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• South West GLH
• South West GLH

Red CHST14 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127

Sources

• South West GLH
• Expert list

Green CHST14 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.29
Latest signed off version: v5.0 (22 Mar 2023)

Sources

• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• Expert list

Phenotypes

• Ehlers-Danlos syndrome, musculocontractural type 1 601776

Green CHST14 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Expert list
• UKGTN
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory

Phenotypes

• Ehlers-Danlos syndrome, musculocontractural type 1 601776

Green CHST14 in Bleeding and platelet disorders

Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• NHS GMS
• Wessex and West Midlands GLH

Phenotypes

• Ehlers-Danlos syndrome, musculocontractural type 1, 601776

Green CHST14 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

Sources

• Expert Review Green
• Literature

Phenotypes

• CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
• Ehlers-Danlos syndrome, musculocontractural type 1 601776
• CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

Green CHST14 in Likely inborn error of metabolism - targeted testing not possible

Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Ehlers-Danlos syndrome, musculocontractural type 1 601776
• CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

Green CHST14 in Ehlers Danlos syndrome with a likely monogenic cause

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review
• Literature
• Expert list
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• Expert Review Green

Phenotypes

• Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776

Green CHST14 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE

No list CHST14 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green CHST14 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776

Green CHST14 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
• EDSMC1

Amber CHST14 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert Review Amber
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Gene2Phenotype confirmed gene with ID HPO

Red CHST14 in Childhood onset dystonia, chorea or related movement disorder

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green CHST14 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Ehlers-Danlos syndrome, musculocontractural type 1, 601776