PanelApp
  1. Genes and Genomic Entities
  2. CHST14

CHST14

carbohydrate sulfotransferase 14
OMIM: 608429, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green CHST14 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.100

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 0.427

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 1.62

    		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 1.78

    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 0.474

    		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 1.3512

    		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 1.108

    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 1.410

    		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 0.346

    		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 0.110

    		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 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
    • EDSMC1

    Green CHST14 in Fetal anomalies


    Version 1.465

    		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 2.14

    		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 0.20

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776