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Newborns main panel

Gene: ZFP57

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 30315371 - 14 recessive cases. Did not find autosomal dominant cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Three different genetic mechanisms cause 6q24-TNDM: paternaluniparental disomyofchromosome6 (UPD6) (41%);duplicationof 6q24 on the paternalallele(29%); and hypomethylation of the maternally inheritedPLAGL1TSS alt-DMR (30%). Hypomethylation of the maternally inheritedPLAGL1TSS alt-DMR may result from an isolatedimprintingvariant or as part of a more generalized defect termed multilocus imprinting disturbance (MLID). BiallelicZFP57pathogenic variants account for almost half of TNDM-MLID
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Autosomal recessive diabetes mellitus, transient neonatal 1
OMIM
612192
Clinvar variants
Variants in ZFP57
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ZFP57. Added phenotypes Autosomal recessive diabetes mellitus, transient neonatal 1 for gene: ZFP57 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ZFP57. Added phenotypes Autosomal recessive diabetes mellitus, transient neonatal 1 for gene: ZFP57 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ZFP57. Mode of inheritance for gene ZFP57 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Autosomal recessive diabetes mellitus, transient neonatal 1 for gene: ZFP57 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ZFP57 was added gene: ZFP57 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: ZFP57 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal