Cytopenias and congenital anaemias
Gene: POLR3GL
POLR3GL (RNA polymerase III subunit G like)
EnsemblGeneIds (GRCh38): ENSG00000121851
EnsemblGeneIds (GRCh37): ENSG00000121851
OMIM: 617457, Gene2Phenotype
POLR3GL is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000121851
EnsemblGeneIds (GRCh37): ENSG00000121851
OMIM: 617457, Gene2Phenotype
POLR3GL is in 3 panels
2 reviews
Olivia Niblock (Genomics England Curator)
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
- 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