PanelApp (stage)
  1. Genes and Genomic Entities
  2. SAR1B

SAR1B

secretion associated Ras related GTPase 1B
OMIM: 607690, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SAR1B in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chylomicron retention disease, MIM# 246700

Green SAR1B in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Chylomicron retention disease, MIM# 246700

Red SAR1B in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.26

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Red
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chylomicron retention disease, 246700

    Green SAR1B in Dyslipidaemia


    Level 2: Endocrine disorders
    Version 0.41

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chylomicron retention disease, MIM# 246700

    Green SAR1B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chylomicron retention disease, 246700 (3)

    Green SAR1B in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Chylomicron retention disease, MIM# 246700

    Green SAR1B in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chylomicron retention disease, 246700 (3)

    Green SAR1B in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chylomicron retention disease, MIM# 246700
    Tags
    • treatable
    • gastrointestinal