Severe microcephaly

Gene: PQBP1

Green List (high evidence)

PQBP1 (polyglutamine binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102103
EnsemblGeneIds (GRCh37): ENSG00000102103
OMIM: 300463, Gene2Phenotype
PQBP1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P. Listed on geneReview as differential for Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders
Created: 12 Jan 2017, 9:47 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Renpenning syndrome 309500

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renpenning syndrome 309500
OMIM
300463
Clinvar variants
Variants in PQBP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PQBP1.

2 Mar 2017, Gel status: 4

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.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

PQBP1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

12 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

PQBP1 was created by agardham