Genomic imprinting
Gene: ZFP57EnsemblGeneIds (GRCh38): ENSG00000204644
EnsemblGeneIds (GRCh37): ENSG00000204644
OMIM: 612192, Gene2Phenotype
ZFP57 is in 11 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 7 unrelated cases of diabetes mellitus, transient neonatal 1 OMIM:601410, who shared pattern of mosaic hypomethylation and a conserved range of clinical features (PMID 18622393). Therefore, variants in ZFP57 can be regarded as responsible for this Multi Locus Imprinting Disturbance.Created: 2 Feb 2021, 4:41 p.m. | Last Modified: 2 Feb 2021, 4:41 p.m.
Panel Version: 0.79
Ellen McDonagh (Genomics England Curator)
http://www.imprinting-disorders.eu/?page_id=282. This is (c) gene whose mutation deranges imprinting in trans.Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenotype resulting from under expression: Transient Neonatal Diabetes Mellitus Type 1; Multi-locus imprinting disorder; Affected tissue: pancreatic beta-cells (prenatal growth restriction)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
-
- Diabetes mellitus, transient neonatal 1 OMIM:601410
- diabetes mellitus, transient neonatal, 1MONDO:0011073
- IUGR
- Multi Locus Imprinting Disturbance
- OMIM
- 612192
- Clinvar variants
- Variants in ZFP57
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: zfp57 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ZFP57 were changed from Phenotype resulting from under expression: Transient Neonatal Diabetes Mellitus Type 1; Multi-locus imprinting disorder; Affected tissue: pancreatic beta-cells (prenatal growth restriction) to Diabetes mellitus, transient neonatal 1 OMIM:601410; diabetes mellitus, transient neonatal, 1MONDO:0011073; IUGR; Multi Locus Imprinting Disturbance
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ZFP57 were set to PMID: 18622393; 23150280
Created
Ellen McDonagh (Genomics England Curator)ZFP57 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ZFP57 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain