1. Genes and Genomic Entities
  2. RBM28

RBM28

RNA binding motif protein 28
OMIM: 612074, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red RBM28 in Pituitary hormone deficiency


Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center
Phenotypes
  • ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
  • ANE syndrome
Red RBM28 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079
    Red RBM28 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Alopecia, neurologic defects, and endocrinopathy syndrome,612079
    • Intellectual disability