Severe microcephalyGene: PQBP1
Recognised on G2P. Listed on geneReview as differential for Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders
12 Jan 2017, 9:47 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renpenning syndrome 309500
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.
This gene has been classified as Green List (High Evidence).
PQBP1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
PQBP1 was created by agardham