Microcephaly

Gene: VRK1

Green List (high evidence)

PMID 19646678: A homozygous nonsense variant was identified in an affected Ashkenazi Jewish family with 3 individuals with SMA-PCH. 2 had severe microcephaly (-6SD at 5yo and -7.9SD at 19mo). The third was noted to be microcephalic but no figures given.

PMID 24126608: "Three affected individuals from 2 unrelated families presented with a complex neuropathy phenotype characterized by axonal sensorimotor neuropathy and microcephaly". 2 sibs from one family had head circumference -4SD and -6SD and were chet for missense variants. The third unrelated individual was -6SD and hom for a nonsense variant.

PMID 27281532: reports another individual with microcephaly but no details provided.

Variants in VRK1 appear to be related to a variety of phenotypes (PMID: 31560180), and not all individuals are microcephalic, but there are sufficient reports to make this gene Green.

Created: 31 Aug 2020, 8:53 a.m. | Last Modified: 31 Aug 2020, 8:53 a.m.

Panel Version: 0.218

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 1A MIM#607596

Publications

• 19646678
• 24126608
• 27281532
• 31560180

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