PanelApp (test)
  1. Genes and Genomic Entities
  2. RAB7A

RAB7A

RAB7A, member RAS oncogene family
OMIM: 602298, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RAB7A in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B, MIM# 600882
  • MONDO:0010949

Green RAB7A in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.11

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of autophagy
    • Charcot-Marie-Tooth disease type 2 MONDO:0018993

    Green RAB7A in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2B, MIM# 600882
    • MONDO:0010949

    Green RAB7A in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.34

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2B, MIM# 600882
    • MONDO:0010949

    Green RAB7A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease

    Red RAB7A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2B, MIM# 600882