Cytopenias and congenital anaemias
Gene: PIAS3
PIAS3 (protein inhibitor of activated STAT 3)
EnsemblGeneIds (GRCh38): ENSG00000131788
EnsemblGeneIds (GRCh37): ENSG00000131788
OMIM: 605987, Gene2Phenotype
PIAS3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000131788
EnsemblGeneIds (GRCh37): ENSG00000131788
OMIM: 605987, Gene2Phenotype
PIAS3 is in 1 panel
2 reviews
Olivia Niblock (Genomics England Curator)
Note: also known as FLJ14651 or ZMIZ5, although HGNC name = PIAS3. No phenotypic data linked to gene on OMIM, no results on Gene2Phenotype. Unable to find literature linking gene variants to phenotype other than that the gene is in the deleted area in 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, 11 a.m.
Details
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
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- Thrombocytopenia Absent-Radius Syndrome
- Tags
- OMIM
- 605987
- Clinvar variants
- Variants in PIAS3
- 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)PIAS3 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)PIAS3 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)PIAS3 was created by LouiseD