Cytopenias and congenital anaemias
Gene: SETBP1EnsemblGeneIds (GRCh38): ENSG00000152217
EnsemblGeneIds (GRCh37): ENSG00000152217
OMIM: 611060, Gene2Phenotype
SETBP1 is in 5 panels
2 reviews
Helen Brittain (Genomics England Curator)
Germline mutations are associated with MR (AD) and Schinzel-Giedion syndrome. Neither of these have a prominent haematological phenotype. SETBP1 has been implicated as a secondarily mutated gene in JMML.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 29 616078; Schinzel-Giedion midface retraction syndrome 269150
Publications
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Paediatric
- OMIM
- 611060
- Clinvar variants
- Variants in SETBP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)SETBP1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Louise Daugherty (Genomics England Curator)SETBP1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)SETBP1 was created by LouiseD