KCNQ1OT1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red KCNQ1OT1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Beckwith-Wiedemann syndrome OMIM:130650
  • Russell-Silver Syndrome

Red KCNQ1OT1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review Unknown
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Beckwith-Wiedemann syndrome

Amber KCNQ1OT1 in Imprinting disorders


Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Beckwith-Wiedemann syndrome OMIM:130650
  • Russell-Silver Syndrome

Red KCNQ1OT1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Beckwith-Wiedemann syndrome