PPP1R15B:Ensemblv90

protein phosphatase 1 regulatory subunit 15B
OMIM: 613257, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber PPP1R15B in Mendeliome Version 1.3802	1 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 1.376	1 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 1.508	1 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 0.152 Component of the following Super Panels: Metabolic Disorders Superpanel	1 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 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Amber PPP1R15B in Monogenic Diabetes Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817