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Mendeliome

Gene: ZFP57

Green List (high evidence)

ZFP57 (ZFP57 zinc finger protein)
EnsemblGeneIds (GRCh38): ENSG00000204644
EnsemblGeneIds (GRCh37): ENSG00000204644
OMIM: 612192, Gene2Phenotype
ZFP57 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Reports of at least 14 individuals with biallelic missense and truncating variants in neonatal patients ascertained through presentation with IUGR, hyperglycaemia or macroglossia as key features.

Patients had maternal hypomethylation at the Transient Neonatal Diabetes Mellitus (TNDM) differentially methylated region (DMR); LoM PLAGL1:alt-TSSDMR (6q24) and variable hypomethylation at other maternally imprinted loci including: GRB10:alt-TSS-DMR, PEG3:TSS-DMR, MEST:alt-TSSDMR, KCNQ1OT1:TSS-DMR and GNAS-AS1:TSS-DMR, representing Multi Locus Imprinting Disturbance (MLID).

Various congenital anomalies were observed in ZFP57-related TNDM-MLID patients, including facial dysmorphism, cardiac anomalies and umbilical hernia. Developmental delay, epilepsy and structural brain abnormalities were less frequent. The phenotype was not clearly related to hypomethylated loci and therefore difficult to predict. (Touati et al 2019)

Shi et al (2019) showed the primary function of ZFP57 is to maintain DNA methylation and repressive histone marks at germline-derived imprinting control regions.
Created: 3 Mar 2022, 7:49 a.m. | Last Modified: 3 Mar 2022, 7:49 a.m.
Panel Version: 0.11128

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
IUGR; Diabetes mellitus, transient neonatal 1 OMIM:601410; Multi Locus Imprinting Disturbance; diabetes mellitus, transient neonatal, 1MONDO:0011073

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • IUGR
  • Diabetes mellitus, transient neonatal 1 OMIM:601410
  • Multi Locus Imprinting Disturbance
  • diabetes mellitus, transient neonatal, 1, MONDO:0011073
OMIM
612192
Clinvar variants
Variants in ZFP57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfp57 has been classified as Green List (High Evidence).

3 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZFP57 were changed from to IUGR; Diabetes mellitus, transient neonatal 1 OMIM:601410; Multi Locus Imprinting Disturbance; diabetes mellitus, transient neonatal, 1, MONDO:0011073

3 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZFP57 were set to

3 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZFP57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZFP57 was added gene: ZFP57 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZFP57 was set to Unknown