Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genomic imprinting v0.113 | PLAGL1 | Sarah Leigh Phenotypes for gene: PLAGL1 were changed from to {Diabetes mellitus, transient neonatal 1} , OMIM:601410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.112 | PLAGL1 | Sarah Leigh Publications for gene: PLAGL1 were set to 30794780; http://igc.otago.ac.nz/home.html | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.111 | PLAGL1 | Sarah Leigh Classified gene: PLAGL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.111 | PLAGL1 | Sarah Leigh Gene: plagl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.110 | PLAGL1 | Sarah Leigh edited their review of gene: PLAGL1: Added comment: 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).; Changed rating: GREEN; Changed publications to: 16928428, 7719335, 8842729, 11935319, 17084362, 10655556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.26 | PLAGL1 | Sarah Leigh reviewed gene: PLAGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.22 | PLAGL1 |
Sarah Leigh 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 |