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


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

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 6.438
Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    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