RBM28

RNA binding motif protein 28
OMIM: 612074, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber RBM28 in Mendeliome Version 1.4215	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 1.638	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 0.173	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 0.80	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)
Amber RBM28 in Adrenal insufficiency Level 3: Adrenal disorders Level 2: Endocrine disorders Version 0.57	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes ANE syndrome Alopecia, neurologic defects, and endocrinopathy syndrome (612079)