Lipodystrophy - childhood onset
Gene: POLR3GLComment on list classification: New gene added by Zornitza Stark. There are 3 unrelated families with variants in this gene; however, lipodystrophy is only described in 1 family. Adding as Red gene until further evidence is available.Created: 6 Oct 2020, 2:11 p.m. | Last Modified: 6 Oct 2020, 2:11 p.m.
Panel Version: 2.7
Biallelic canonical splice variants identified in monozygotic twins and another individual with similar phenotypes from 2 unrelated families. RNA studies confirmed exon skipping occurs in all affected individuals.
A separate study identified a homozygous nonsense variant in an individual with features of Neonatal progeroid syndrome/Wiedemann–Rautenstrauch syndrome. Quantitative PCR showed reduction in mRNA suggestive of NMD.
Three cases altogether but the phenotypes are very different -- may represent a spectrum with the more severe phenotypes resulting from truncating variants but further cases needed.
Sources: LiteratureCreated: 3 Jun 2020, 10:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy
Publications
Gene: polr3gl has been classified as Red List (Low Evidence).
gene: POLR3GL was added gene: POLR3GL was added to Lipodystrophy - childhood onset. Sources: Literature Mode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3GL were set to 31089205; 31695177 Phenotypes for gene: POLR3GL were set to endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy Review for gene: POLR3GL was set to AMBER