Tumour predisposition - childhood onset

Gene: KCNQ1OT1

Red List (low evidence)

KCNQ1OT1 (KCNQ1 opposite strand/antisense transcript 1 (non-protein coding))
EnsemblGeneIds (GRCh38): ENSG00000269821
EnsemblGeneIds (GRCh37): ENSG00000269821
OMIM: 604115, Gene2Phenotype
KCNQ1OT1 is in 3 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 3:39 p.m.

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Methylation defects in the upstream KvDMR cause disease but not loss of function mutations in KCNQ1OT1. It is conceivable that genetic disruptions on the maternal allele could cause these methylation defects but this is as yet unproven
Created: 7 Mar 2016, 11:23 p.m.

Publications

Ellen Thomas (Genomics England Curator)

Comment on list classification: Methylation defects (or occasionally deletion) can cause Beckwith-Wiedemann.
Created: 14 Feb 2016, 5:45 p.m.

Eik Haraldsdottir (Genomics England)

Methylation status
Created: 22 Jul 2015, 2:08 p.m.

Details

Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
locus-type-rna-long-non-coding
OMIM
604115
Clinvar variants
Variants in KCNQ1OT1
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

KCNQ1OT1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

KCNQ1OT1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory