CHST14

carbohydrate sulfotransferase 14
OMIM: 608429, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green CHST14 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.105	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 (MIM# 601776)
Green CHST14 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.17 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776)
Green CHST14 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.72	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Green CHST14 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.83 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Red CHST14 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.529	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert list Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Green CHST14 in Mendeliome Version 1.4541	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776
Green CHST14 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.121 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Amber Expert Review Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776
Amber CHST14 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.699	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Green CHST14 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.417	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776
Green CHST14 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
Green CHST14 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.312	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 EDSMC1
Green CHST14 in Fetal anomalies Version 1.542	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Green CHST14 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Green CHST14 in Transplant Co-Morbidity Level 2: Screening Version 0.21	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776