1. Genes and Genomic Entities
  2. RARB

RARB

retinoic acid receptor beta
OMIM: 180220, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green RARB in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.52

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 12 615524
Green RARB in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Green RARB in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
    Red RARB in Monogenic hearing loss


    Level 2: Audiology
    Version 6.35
    Latest signed off version: v6.34 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Amber RARB in Clefting


    Level 2: Musculoskeletal
    Version 7.9
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • MICROPHTHALMIA, SYNDROMIC 12
    • MCOPS12
    Green RARB in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.57

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microphthalmia, syndromic 12, 615524
    Green RARB in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Microphthalmia, syndromic 12, OMIM:615524
    • neurodevelopmental disorder, MONDO:0700092
    Green RARB in Structural eye disease


    Level 2: Ophthalmology
    Version 5.8
    Latest signed off version: v5.7 (12 Aug 2026)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Microphthalmia, syndromic 12, 615524