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  2. Early onset pancytopenia and red cell disorders
  3. GNRHR2
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Early onset pancytopenia and red cell disorders

Gene: GNRHR2

Red List (low evidence)
GNRHR2 (gonadotropin releasing hormone receptor 2 (pseudogene))
EnsemblGeneIds (GRCh38): ENSG00000211451
EnsemblGeneIds (GRCh37): ENSG00000211451
OMIM: 612875, Gene2Phenotype
GNRHR2 is in 1 panel

1 review

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 3:21 p.m.
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, 10:58 a.m.
Created: 6 Jan 2017, 3:21 p.m.

Panel version: 0.257

Details

Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
locus-type-pseudogene
OMIM
612875
Clinvar variants
Variants in GNRHR2
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GNRHR2 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

25 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GNRHR2 was added to Early onset pancytopenia and red cell disorderspanel. Sources: UKGTN