RBM28

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber RBM28 in Mendeliome Version 1.3795	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 1.497	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 3: Pituitary disorders Level 2: Endocrine disorders Version 0.166	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes ANE syndrome Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Amber RBM28 in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.74	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Amber Expert Review Amber Phenotypes ANE syndrome Alopecia, neurologic defects, and endocrinopathy syndrome (612079)

4 panels