Severe microcephalyGene: UNC80
Summary: Many patients reported as microcephalic. Not all have head circumference < -3SD but there are at least 3 unrelated individuals reported with head circumference smaller than this.
PMID 26708751: 4 individuals from 3 families reported. At 4 years one had OFC -4SD (the others 2nd centile at 4yo, 3rd centile at 15yo, and 10th centile at 9yo).
PMID 26708753: Two 'not directly related' families F1 and F2 identified with the same variant. A third and fourth family had different variants. All affected individuals described were microcephalic (F1: -3.2SD at 4yo; F2: -4SD at 2yo and -2.9SD at 13mo; F3: -2.4SD at 7yo; F4: 9th centile at 4yo and 5th centile at 8yo).
PMID 26545877: 7 affected individuals from 2 distantly related families with the same nonsense variant were all microcephalic (<2nd centile).
PMID 29572195: 2 unrelated individuals reported. Head circumference of patient 1 was -0.5SD at 9yo; Patient 2 -3.7SD at 3yo.
Sources: Expert list
Created: 4 Sep 2020, 10:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801
Variants in this GENE are reported as part of current diagnostic practice
gene: UNC80 was added gene: UNC80 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC80 were set to 26708751; 26708753; 26545877; 29572195 Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801 Review for gene: UNC80 was set to GREEN gene: UNC80 was marked as current diagnostic