Severe microcephalyGene: VRK1
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.
Sources: Expert list
Created: 31 Aug 2020, 11:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia type 1A MIM#607596
Variants in this GENE are reported as part of current diagnostic practice
gene: VRK1 was added gene: VRK1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to 19646678; 24126608; 27281532; 31560180 Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A MIM#607596 Review for gene: VRK1 was set to GREEN gene: VRK1 was marked as current diagnostic