Severe microcephalyGene: NUP107
Autosomal recessive disorder characterised by developmental delay, microcephaly (-5 to -9 SD), and early-onset nephrotic syndrome. Approx 10 families reported. Recurrent variant p.Met101Ile identified in several families, likely represents a South Asian founder allele.
Sources: Expert list
Created: 31 Aug 2020, 11:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Galloway-Mowat syndrome 7, MIM# 618348
Variants in this GENE are reported as part of current diagnostic practice
gene: NUP107 was added gene: NUP107 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP107 were set to 28280135; 28117080; 30179222; 25558065 Phenotypes for gene: NUP107 were set to Galloway-Mowat syndrome 7, MIM# 618348 Review for gene: NUP107 was set to GREEN gene: NUP107 was marked as current diagnostic