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Cytopenias and congenital anaemias

Gene: POLR3GL

Red List (low evidence)

POLR3GL (RNA polymerase III subunit G like)
EnsemblGeneIds (GRCh38): ENSG00000121851
EnsemblGeneIds (GRCh37): ENSG00000121851
OMIM: 617457, Gene2Phenotype
POLR3GL is in 2 panels

2 reviews

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Within the area associated with the 1q21.1 deletion, which is thought to cause TAR syndrome. No phenotypes associated with it on OMIM or Gene2Phenotype. No results on pubmed for literature linking gene or variants to Anaemia, cytopenia or TAR syndrome.
Created: 9 Mar 2017, 4:32 p.m.

Phenotypes
Thrombocytopenia Absent-Radius Syndrome

Ellen McDonagh (Genomics England Curator)

The UKGTN gene dossier explains that a 200kb deletion at 1q21.1 encompassing the genes; HFE2, TXNIP, PLOR3GL, ANKRD34A, LIX1L, RBM8A, GNRHR2, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT1, is tested for diagnosis of Thrombocytopenia Absent-Radius Syndrome. "PLOR3GL" is likely to be POLR3GL, the correct spelling for this gene in this region.
Created: 25 Jun 2015, 10:55 a.m.

Details

Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
somatic
OMIM
617457
Clinvar variants
Variants in POLR3GL
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

POLR3GL was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

POLR3GL was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

POLR3GL was created by LouiseD