PPP1R15B

protein phosphatase 1 regulatory subunit 15B
OMIM: 613257, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber PPP1R15B in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Amber PPP1R15B in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Amber PPP1R15B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Amber PPP1R15B in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
Amber PPP1R15B in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817