CHST14

carbohydrate sulfotransferase 14
OMIM: 608429, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green CHST14 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	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 0.416	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 1.52	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 1.58 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 0.430	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 1.2302	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 1.85 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 1.63	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 0.302	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 Multiple joint dislocations and laxity Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory NHS GMS Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776
Green CHST14 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	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 0.260	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 EDSMC1
Green CHST14 in Fetal anomalies Version 1.313	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 1.1566	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 Superpanel Level 2: Screening Version 0.18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776