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 0.94

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
  • Affected tissue: all
Tags
  • locus-type-rna-long-non-coding

Red KCNQ1OT1 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.17
Latest signed off version: v2.5 (4 Mar 2020)

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 1.103

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