Familial diabetes
Gene: PPP1R15B

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Created: 28 Jan 2019, 9:40 a.m.

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: PPP1R15B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability.
Created: 11 Jan 2019, 10:04 a.m.

Created: 11 Jan 2019, 10:04 a.m.

Panel version: Imported from Monogenic diabetes panel version 0.8

Details

Mode of Inheritance

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

OMIM

613257

Clinvar variants

Variants in PPP1R15B

Penetrance

None

Panels with this gene

History Filter Activity

1 Mar 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, 616817

1 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PPP1R15B was added gene: PPP1R15B was added to Familial diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal

Familial diabetes Gene: PPP1R15B