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Genomic imprinting

Gene: PLAGL1

Green List (high evidence)
PLAGL1 (PLAG1 like zinc finger 1)
EnsemblGeneIds (GRCh38): ENSG00000118495
EnsemblGeneIds (GRCh37): ENSG00000118495
OMIM: 603044, Gene2Phenotype
PLAGL1 is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The literature shows that PLAGL1 is a transcription factor which is subject to imprinting, resulting in the paternal allele being expressed. Transient neonatal diabetes mellitus is seen where there is an excess expression of the paternal allele, such when there is chromosome 6, paternal uniparental isodisomy of chromosome 6 and paternally inherited duplications of chromosome 6q (PMID: 7719335;8842729). These observations are supported by studie in mice (PMID: 16928428; 17084362).
Created: 20 Jan 2022, 4:19 p.m. | Last Modified: 20 Jan 2022, 4:19 p.m.
Panel Version: 0.110
Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human)
Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26

Publications

Created: 22 Dec 2020, 6:10 p.m.
Last Modified: 22 Dec 2020, 6:10 p.m.
Panel version: 0.110

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {Diabetes mellitus, transient neonatal 1} , OMIM:601410
OMIM
603044
Clinvar variants
Variants in PLAGL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PLAGL1 were changed from to {Diabetes mellitus, transient neonatal 1} , OMIM:601410

20 Jan 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PLAGL1 were set to 30794780; http://igc.otago.ac.nz/home.html

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: plagl1 has been classified as Green List (High Evidence).

22 Dec 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PLAGL1 was added gene: PLAGL1 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: PLAGL1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: PLAGL1 were set to 30794780; http://igc.otago.ac.nz/home.html