PPP1R15B

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PPP1R15B in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.38	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Green NHS GMS Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817
Green PPP1R15B in Monogenic diabetes Version 2.3 Signed off v.2.2 on 25 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
Red PPP1R15B in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.6 Signed off v.2.2 on 2 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Other Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817 MSSGM2
Red PPP1R15B in DDG2P Version 2.8 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Severe microcephaly, short stature and intellectual disability
Green PPP1R15B in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.79 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817
Green PPP1R15B in Severe Paediatric Disorders Version 1.6	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817