KCNQ1OT1

KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
OMIM: 604115, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green KCNQ1OT1 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Beckwith-Wiedemann syndrome OMIM:130650
Tags
  • locus-type-rna-long-non-coding
Red KCNQ1OT1 in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
  • locus-type-rna-long-non-coding
Amber KCNQ1OT1 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.120

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Amber
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Beckwith-Wiedemann Syndrome, 130650
Tags
  • locus-type-rna-long-non-coding