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  3. ZFP57
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Growth failure in early childhood

Gene: ZFP57

Green List (high evidence)
ZFP57 (ZFP57 zinc finger protein)
EnsemblGeneIds (GRCh38): ENSG00000204644
EnsemblGeneIds (GRCh37): ENSG00000204644
OMIM: 612192, Gene2Phenotype
ZFP57 is in 11 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Previous phenotypes include: IUGR;Multi Locus Imprinting Disturbance
Created: 26 Mar 2024, 4:18 p.m. | Last Modified: 26 Mar 2024, 4:18 p.m.
Panel Version: 3.62
Created: 26 Mar 2024, 4:18 p.m.
Last Modified: 26 Mar 2024, 4:18 p.m.
Panel version: 3.62

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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, 4:42 p.m. | Last Modified: 2 Feb 2021, 4:42 p.m.
Panel Version: 1.55
Created: 2 Feb 2021, 4:42 p.m.
Last Modified: 2 Feb 2021, 4:42 p.m.
Panel version: 1.55

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.100
Comment on list classification: Promoted from Red to Amber. The GMS specialist group needs to determine whether this phenotype is appropriate for the panel. If appropriate then can be promoted to Green.
Created: 1 Feb 2021, 2:27 p.m. | Last Modified: 1 Feb 2021, 2:27 p.m.
Panel Version: 1.48
Created: 1 Feb 2021, 2:27 p.m.
Last Modified: 1 Feb 2021, 2:27 p.m.
Panel version: 1.100

Karen Temple (Wessex GMC)

ZFP57 causes multi-locus imprinting disturbance and as yet this always includes transient neonatal diabetes and IUGR; but sometimes diabetes is missed and so a baby could have unexplained IUGR and therefore fit into this panel.
Created: 29 Jan 2021, 11:39 a.m. | Last Modified: 29 Jan 2021, 11:39 a.m.
Panel Version: 1.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
IUGR; transient neonatal diabetes

Publications

  • Mackay DJG, JLA Calloway, SM Marks, HE White, CL Acerini, SE Boonan, P Dayanikli, HV Firth, JA Goodship, AP Haemers, JMD Hahnemann, O Kordonouri, AF Masoud, E Ostergaard, J Storr, S Ellard, AT Hattersley, DO Robinson, IK Temple. Hypomethylation at multiple imprinted loci in individuals with transient neonatal diabetes is associated with ZFP57 mutations Nature Genetics: 2008
  • 40: 949-51. PMID: 18622393. DOI: 10.1038/ng.187

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Jan 2021, 11:39 a.m.
Last Modified: 29 Jan 2021, 11:39 a.m.
Panel version: 1.34

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.
Created: 30 May 2019, 9:49 a.m.

Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Diabetes mellitus, transient neonatal 1, OMIM:601410
OMIM
612192
Clinvar variants
Variants in ZFP57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

3 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: ZFP57.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ZFP57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Feb 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ZFP57 were changed from Phenotypes consistent with hypomethylation at multiple imprinted loci to Diabetes mellitus, transient neonatal 1 OMIM:601410; diabetes mellitus, transient neonatal, 1MONDO:0011073; IUGR; Multi Locus Imprinting Disturbance

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: zfp57 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: ZFP57.

1 Feb 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ZFP57 were set to PMID: 18622393

30 May 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to ZFP57. Rating Changed from Green List (high evidence) to Red List (low evidence)

14 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ZFP57 was added gene: ZFP57 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFP57 were set to PMID: 18622393 Phenotypes for gene: ZFP57 were set to Phenotypes consistent with hypomethylation at multiple imprinted loci