Genomic imprinting
Gene: PLAGL1
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
Phenotypes for gene: PLAGL1 were changed from to {Diabetes mellitus, transient neonatal 1} , OMIM:601410
Publications for gene: PLAGL1 were set to 30794780; http://igc.otago.ac.nz/home.html
Gene: plagl1 has been classified as Green List (High Evidence).
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