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Intellectual disability

Gene: PPP1R15B

Green List (high evidence)

PPP1R15B (protein phosphatase 1 regulatory subunit 15B)
EnsemblGeneIds (GRCh38): ENSG00000158615
EnsemblGeneIds (GRCh37): ENSG00000158615
OMIM: 613257, Gene2Phenotype
PPP1R15B is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. PPP1R15B is associated with a phenotype in OMIM and possibly associated with a phenotype in Gene2Phenotype. PMID: 26159176, 26307080 reported on 2 unrelated patients (Canadian, Algerian) who have the same missense variant in the PPP1R15B gene. Both patients have ID. PMID:27640355 reported on another case where the patient was compound heterozygous for 2 different variants (1 frameshift and 1 nonsense). The patient also had ID. Therefore, there is enough evidence to promote this gene to green status.
Created: 28 Jun 2019, 1:20 p.m. | Last Modified: 28 Jun 2019, 1:20 p.m.
Panel Version: 2.918

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple individuals from three families reported in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 2:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 2

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 2, 616817
OMIM
613257
Clinvar variants
Variants in PPP1R15B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ppp1r15b has been classified as Green List (High Evidence).

28 Jun 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

28 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PPP1R15B were set to 26159176, 26307080, 27640355

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PPP1R15B.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

PPP1R15B was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

PPP1R15B was created by Zornitza Stark