Multi locus imprinting disorders
Gene: ZFP57EnsemblGeneIds (GRCh38): ENSG00000204644
EnsemblGeneIds (GRCh37): ENSG00000204644
OMIM: 612192, Gene2Phenotype
ZFP57 is in 11 panels
3 reviews
Ida Ertmanska (Genomics England Curator)
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before changing the rating and mode of inheritance of this gene.Created: 11 Dec 2025, 4:44 p.m. | Last Modified: 11 Dec 2025, 4:44 p.m.
Panel Version: 1.14
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.Created: 20 Jun 2025, 6:08 p.m. | Last Modified: 20 Jun 2025, 6:08 p.m.
Panel Version: 1.12
As reviewed in PMID:35296332, 15 different ZFP57 variants were identified in a total of 16 affected individuals (including two siblings). Transient neonatal diabetes mellitus (TNDM) was the clinical diagnosis in 15 individuals. Fourteen patients were homozygous and two were compound heterozygous.
The majority of ZFP57 associated Multi-locus imprinting disturbance (MLID) individuals exhibited loss of methylation at three imprinted loci: PLAGL1 as the phenotype determining DMR, GRB10 and PEG3.
This gene has also been included in the guidelines for MLID in PMID:39090763.
This gene has been associated with relevant phenotypes in OMIM (MIM #601410) and Gene2Phenotype (with 'definitive' rating on the DD panel).Created: 20 Jun 2025, 6:06 p.m. | Last Modified: 20 Jun 2025, 6:06 p.m.
Panel Version: 1.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Diabetes mellitus, transient neonatal 1}, OMIM:601410
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
included in the guidelines PMID: 39090763
Sources: Expert listCreated: 10 Oct 2024, 8:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MLID
Publications
- PMID: 39090763
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- {Diabetes mellitus, transient neonatal 1}, OMIM:601410
- Multi-locus imprinting disturbance (MLID)
- Tags
- OMIM
- 612192
- Clinvar variants
- Variants in ZFP57
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Added Tag
Ida Ertmanska (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: ZFP57. Tag to_be_confirmed_NHSE tag was added to gene: ZFP57.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: zfp57 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ZFP57 were changed from MLID to {Diabetes mellitus, transient neonatal 1}, OMIM:601410; Multi-locus imprinting disturbance (MLID)
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ZFP57 were set to PMID: 39090763
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: ZFP57.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Dmitrijs Rots (Children's Clinical University Hospital)gene: ZFP57 was added gene: ZFP57 was added to Multi locus imprinting disorders. Sources: Expert list Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFP57 were set to PMID: 39090763 Phenotypes for gene: ZFP57 were set to MLID Penetrance for gene: ZFP57 were set to unknown Review for gene: ZFP57 was set to GREEN