Growth failure in early childhood
Gene: ZFP57Comment on phenotypes: Previous phenotypes include: IUGR;Multi Locus Imprinting DisturbanceCreated: 26 Mar 2024, 4:18 p.m. | Last Modified: 26 Mar 2024, 4:18 p.m.
Panel Version: 3.62
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
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
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
Variants in this GENE are reported as part of current diagnostic practice
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.
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
Tag for-review was removed from gene: ZFP57.
Source Expert Review Green was added to ZFP57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Gene: zfp57 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ZFP57.
Publications for gene: ZFP57 were set to PMID: 18622393
Source Expert Review Red was added to ZFP57. Rating Changed from Green List (high evidence) to Red List (low evidence)
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