Severe microcephalyGene: RRP7A
Comment on list classification: New gene added by Zornitza Stark. PMID:33199730 report a homozygous missense variant (c.465G>C; p.Trp155Cys) in RRP7A that segregated with primary microcephaly in a consanguineous family with 10 affected individuals. Supported by animal model data. Rating Amber, awaiting further cases.
Created: 19 May 2021, 1:34 p.m. | Last Modified: 19 May 2021, 1:34 p.m.
Panel Version: 2.168
10 affected individuals from a single large consanguineous family where bi-allelic variant segregated with severe microcephaly (-6-8SD), variable ID. Supportive functional data from mouse and zebrafish.
Created: 9 Dec 2020, 7:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: rrp7a has been classified as Amber List (Moderate Evidence).
gene: RRP7A was added gene: RRP7A was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: RRP7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRP7A were set to 33199730 Phenotypes for gene: RRP7A were set to Microcephaly Review for gene: RRP7A was set to AMBER