PPP1R15B

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

5 panels

Panel Reviews Mode of inheritance Details
5 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 2.1

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 1.74

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 1.148

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 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 2, 616817