Severe microcephaly

Gene: PPP1R15B

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Possible DD gene for 'Severe microcephaly, short stature and intellectual disability'. Only 2 reported cases of PPP1R15B linked to microcephaly (and 1 variant). Therefore currently insufficient evidence to promote to green.
19 Jan 2017, 9:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 2, 616817
  • MSSGM2
OMIM
613257
Clinvar variants
Variants in PPP1R15B
Penetrance
Complete
Publications
  • 26307080: In a Canadian sister and brother, born of second-cousin parents, with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination, and intellectual disability, Kernohan et al. (2015) identified homozygosity for a c.1972C-T mutation in PPP1R15B (R658C)
  • 26159176: In a brother and sister from a consanguineous Algerian family with microcephaly, short stature, intellectual disability, and diabetes (MSSGM2, 616817), Abdulkarim et al. (2015) identified homozygosity for the R658C substitution.
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

19 Jan 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for PPP1R15B were set to 26307080: In a Canadian sister and brother, born of second-cousin parents, with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination, and intellectual disability, Kernohan et al. (2015) identified homozygosity for a c.1972C-T mutation in PPP1R15B (R658C); 26159176: In a brother and sister from a consanguineous Algerian family with microcephaly, short stature, intellectual disability, and diabetes (MSSGM2, 616817), Abdulkarim et al. (2015) identified homozygosity for the R658C substitution.

19 Jan 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for PPP1R15B were set to 26307080: In a Canadian sister and brother, born of second-cousin parents, with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination, and intellectual disability, Kernohan et al. (2015, PMID: 26307080) identified homozygosity for a c.1972C-T mutation in PPP1R15B (R658C); 26159176: In a brother and sister from a consanguineous Algerian family with microcephaly, short stature, intellectual disability, and diabetes (MSSGM2; 616817), Abdulkarim et al. (2015, PMID:26159176) identified homozygosity for the R658C substitution.

19 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PPP1R15B was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

19 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PPP1R15B was created by rfoulger