PPP1R15B

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

6 panels

Panel Reviews Mode of inheritance Details
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