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Microcephaly
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three unrelated families reported, two with the same variant. Phenotype in family reported in PMID 27640355 included infantile cirrhosis requiring transplantation.
Created: 3 Sep 2020, 3 a.m. | Last Modified: 3 Sep 2020, 3 a.m.

Panel Version: 0.391

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817

Publications

Created: 3 Sep 2020, 3 a.m.
Last Modified: 3 Sep 2020, 3 a.m.
Panel version: 0.391

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817

OMIM

Clinvar variants

Variants in PPP1R15B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Sep 2020, 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).

3 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPP1R15B were set to

3 Sep 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPP1R15B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Sep 2020, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPP1R15B was added gene: PPP1R15B was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPP1R15B was set to Unknown