PanelApp
  1. Genes and Genomic Entities
  2. CBS

CBS

cystathionine-beta-synthase
OMIM: 613381, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green CBS in Vasculitis


Level 2: Immunological disorders
Version 0.93

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green CBS in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.100

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Homocystinuria (MIM# 236200)
Tags
  • treatable

Green CBS in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.62

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombosis, hyperhomocysteinemic, MIM# 236200
  • Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200

Green CBS in Mendeliome


Version 1.3499

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types, 236200
  • Thrombosis, hyperhomocysteinemic, 236200
Tags
  • treatable

Green CBS in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.590

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
  • treatable

Green CBS in Additional findings_Adult


Level 2: Screening
Version 1.130

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200

Green CBS in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.398

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Homocystinuria (MIM# 236200)
Tags
  • treatable

Red CBS in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.110

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)

Green CBS in Stroke


Level 2: Neurology and neurodevelopmental disorders
Version 1.28

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types MIM#236200
  • Thrombosis, hyperhomocysteinemic MIM#236200
Tags
  • treatable

Green CBS in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types

Green CBS in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.57

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Homocystinuria, B6-responsive and nonresponsive types MIM#236200
    • disorder of intracellular cobalamin metabolism
    • metabolic disorder of sulfur metabolism
    Tags
    • treatable

    Red CBS in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200

    Amber CBS in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    Phenotypes
    • Homocystinuria, B6-responsive and nonresponsive types, MIM#236200

    Green CBS in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • classic homocystinuria MONDO:0009352

    Green CBS in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Homocystinuria (MIM# 236200)
    Tags
    • for review
    • treatable

    Amber CBS in Pneumothorax

    Level 3: Structural lung disorders
    Level 2: Respiratory disorders
    Version 1.1

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Classic homocystinuria MONDO:0009352

    Green CBS in Genomic newborn screening: ICoNS


    Level 2: Screening
    Version 0.16

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Homocystinuria, B6-responsive and nonresponsive types MIM#236200