PanelApp
  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

Amber RBM28 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Alopecia, neurologic defects, and endocrinopathy syndrome (MIM#612079)

Amber RBM28 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079

Amber RBM28 in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.58

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • ANE syndrome
  • Alopecia, neurologic defects, and endocrinopathy syndrome (612079)