Cytopenias and congenital anaemias
Gene: NUDT1
NUDT1 (nudix hydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000106268
EnsemblGeneIds (GRCh37): ENSG00000106268
OMIM: 600312, Gene2Phenotype
NUDT1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000106268
EnsemblGeneIds (GRCh37): ENSG00000106268
OMIM: 600312, Gene2Phenotype
NUDT1 is in 1 panel
2 reviews
Olivia Niblock (Genomics England Curator)
Within chromosomal location that is deleted in TAR syndrome. No data in Gene2Phenotype and no phenotypes linked to gene in OMIM. Unable to find literature on pubmed linking gene variants to anaemias, cytopenias or TAR syndrome (other than gene location inCreated: 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, 11 a.m.
Details
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
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- Thrombocytopenia Absent-Radius Syndrome
- Tags
- OMIM
- 600312
- Clinvar variants
- Variants in NUDT1
- 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)NUDT1 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)NUDT1 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)NUDT1 was created by LouiseD