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  3. POLR3GL
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Early onset pancytopenia and red cell disorders

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 3 panels

1 review

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.
Created: 25 Jun 2015, 10:55 a.m.

Panel version: 0

Details

Mode of Inheritance
Unknown
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
OMIM
617457
Clinvar variants
Variants in POLR3GL
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene POLR3GL was set to Unknown

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POLR3GL was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

25 Jun 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene POLR3GL was changed to Unknown

25 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POLR3GL was added to Early onset pancytopenia and red cell disorderspanel. Sources: UKGTN