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| Genomic imprinting v0.110 | KCNQ1 | Sarah Leigh Classified gene: KCNQ1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.110 | KCNQ1 | Sarah Leigh Added comment: Comment on list classification: Based on reviews in Short QT syndrome (https://panelapp.genomicsengland.co.uk/panels/224/gene/KCNQ1/#!review) & Long QT syndrome (https://panelapp.genomicsengland.co.uk/panels/76/gene/KCNQ1/#!review) panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.110 | KCNQ1 | Sarah Leigh Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.109 | KCNQ1 | Sarah Leigh Phenotypes for gene: KCNQ1 were changed from to Short QT syndrome 2, OMIM:609621; Long QT syndrome-1, OMIM:192500; Atrial fibrillation, familial, 3, OMIM:607554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.104 | KCNQ1OT1 | Sarah Leigh reviewed gene: KCNQ1OT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.104 | KCNQ1OT1 | Sarah Leigh Publications for gene: KCNQ1OT1 were set to 23511928; 15372379; 30794780; http://igc.otago.ac.nz/home.html; 22205991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.103 | KCNQ1OT1 | Sarah Leigh Phenotypes for gene: KCNQ1OT1 were changed from Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all to Beckwith-Wiedemann syndrome OMIM:130650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.102 | KCNQ1OT1 | Sarah Leigh Publications for gene: KCNQ1OT1 were set to 23511928; PMID: 15372379; 30794780; http://igc.otago.ac.nz/home.html; 22205991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.26 | KCNQ1DN | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: KCNQ1DN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.26 | KCNQ1OT1 | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: KCNQ1OT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.23 | KCNQ1OT1 |
Sarah Leigh Source Literature was added to KCNQ1OT1. Mode of inheritance for gene KCNQ1OT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene KCNQ1OT1 were updated from PMID: 15372379; 22205991; 23511928 to 23511928; PMID: 15372379; 30794780; http://igc.otago.ac.nz/home.html; 22205991 |
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| Genomic imprinting v0.23 | KCNQ1DN |
Sarah Leigh gene: KCNQ1DN was added gene: KCNQ1DN was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: KCNQ1DN was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: KCNQ1DN were set to 30794780; http://igc.otago.ac.nz/home.html |
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| Genomic imprinting v0.23 | KCNQ1 |
Sarah Leigh gene: KCNQ1 was added gene: KCNQ1 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: KCNQ1 were set to 30794780; http://igc.otago.ac.nz/home.html |
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| Genomic imprinting | KCNQ1OT1 | Ellen McDonagh classified KCNQ1OT1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting | KCNQ1OT1 | Ellen McDonagh reviewed KCNQ1OT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||