Pituitary hormone deficiency

Gene: KCNQ1

Amber List (moderate evidence)

KCNQ1 (potassium voltage-gated channel subfamily Q member 1)
EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 11 panels

2 reviews

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Tommiska et al 2017 (PMID: 29097701) - three unrelated families with pituitary hormone deficiency and maternally inherited gingival fibromatosis. p.(Arg116Leu) variant co-segregates with the disorder in one family (14 meiosis). p.(Pro369Leu) variant identified in 2 unrelated families, co-segregated in 1 family, proband only test tested in second family. Mechanism by which the two KCNQ1 mutations cause pituitary hormone deficiency in humans is unclear but authors propose involvement of KCNQ1KCNE2 complex.
Created: 16 Jan 2019, 1:27 p.m.

Publications

Ivone Leong (Genomics England Curator)

Comment on list classification: Comment on list classification: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So demoted from green to amber.
Created: 29 Jan 2019, 11:56 a.m.
Comment on list classification: Promoted from green to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Created: 17 Jan 2019, 10:29 a.m.
Comment on list classification: Demoted from green to amber based on literature evidence. KCNQ1 is not associated with pituitary hormone deficiency in OMIM or Gene2Phenotype. PMID: 29097701 found that 3 unrelated families (2 Finnish and 1 Argentinian) with pituitary hormone deficiency and maternally inherited gingival fibromatosis have missense variants in the KCNQ1 gene.
Created: 10 Dec 2018, 11:59 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Long QT syndrome 1 (192500)
  • Pituitary hormone deficiency
Tags
watchlist
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

29 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kcnq1 has been classified as Amber List (Moderate Evidence).

17 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kcnq1 has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kcnq1 has been classified as Amber List (Moderate Evidence).

10 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kcnq1 has been classified as Amber List (Moderate Evidence).

10 Dec 2018, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: KCNQ1.

10 Dec 2018, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: KCNQ1 was added gene: KCNQ1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ1 were set to 29097701 Phenotypes for gene: KCNQ1 were set to Long QT syndrome 1 (192500); Pituitary hormone deficiency