Lipodystrophy - childhood onset


Red List (low evidence)

POLR3GL (RNA polymerase III subunit G like)
EnsemblGeneIds (GRCh38): ENSG00000121851
EnsemblGeneIds (GRCh37): ENSG00000121851
OMIM: 617457, Gene2Phenotype
POLR3GL is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment 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

Zornitza Stark (Australian Genomics)

I don't know

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: Literature
Created: 3 Jun 2020, 10:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • endosteal hyperostosis
  • oligodontia
  • growth retardation
  • facial dysmorphisms
  • lipodystrophy
Clinvar variants
Variants in POLR3GL
Panels with this gene

History Filter Activity

6 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: polr3gl has been classified as Red List (Low Evidence).

3 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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