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  2. Monogenic Diabetes
  3. PPP1R15B
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Monogenic Diabetes

Gene: PPP1R15B

Amber List (moderate evidence)
PPP1R15B (protein phosphatase 1 regulatory subunit 15B)
EnsemblGeneIds (GRCh38): ENSG00000158615
EnsemblGeneIds (GRCh37): ENSG00000158615
OMIM: 613257, Gene2Phenotype
PPP1R15B is in 5 panels

1 review

Hali Van Niel (University of Melbourne)

I don't know

2 siblings with same PPP1R15B variant with features of microcephaly, short stature, diabetes mellitus (PMID: 26159176)
two unrelated patients with PPP1R15B variant with features of microcephaly and short stature but no reported diabetes mellitus (PMID:26307080;27640355) but both below 6 yrs of age at diagnosis
Created: 30 Apr 2024, 4:16 a.m. | Last Modified: 30 Apr 2024, 4:16 a.m.
Panel Version: 0.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly MONDO:0001149

Publications

Created: 30 Apr 2024, 4:16 a.m.
Last Modified: 30 Apr 2024, 4:16 a.m.
Panel version: 0.125

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
OMIM
613257
Clinvar variants
Variants in PPP1R15B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).

4 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).

4 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPP1R15B were set to

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPP1R15B was added gene: PPP1R15B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPP1R15B were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817