PanelApp
  1. Genes and Genomic Entities
  2. RAB27A

RAB27A

RAB27A, member RAS oncogene family
OMIM: 603868, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RAB27A in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Griscelli syndrome, type 2, MIM# 607624

Green RAB27A in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 1.33

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Griscelli syndrome, type 2, MIM# 607624

    Red RAB27A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Griscelli syndrome, type 2, MIM#607624

    Green RAB27A 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
    • Griscelli syndrome, type 2, 607624 (3)

    Green RAB27A 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
    • Griscelli syndrome

    Red RAB27A in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • NHS Genomic Medicine Service
    Phenotypes
    • Griscelli syndrome, type 2 607624 AR

    Green RAB27A in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Griscelli syndrome, type 2, MIM# 607624

    Green RAB27A in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Griscelli syndrome, MIM#607624
    Tags
    • for review
    • immunological