PanelApp (test)
  1. Genes and Genomic Entities
  2. ARL2BP:Ensemblv90

ARL2BP:Ensemblv90

ADP ribosylation factor like GTPase 2 binding protein
OMIM: 615407, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber ARL2BP in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.44

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa with or without situs inversus MIM#615434

Green ARL2BP in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa with or without situs inversus MIM#615434

Green ARL2BP in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa with or without situs inversus, 615434

    Green ARL2BP in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.235

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Retinitis pigmentosa 82 with or without situs inversus, MIM# 615434

    Amber ARL2BP in Heterotaxy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Retinitis pigmentosa with or without situs inversus MIM#615434

    Green ARL2BP in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa with or without situs inversus, 615434

    Green ARL2BP in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa 82 with or without situs inversus, MIM# 615434