Amelogenesis imperfecta

Gene: KCNJ1

Red List (low evidence)

KCNJ1 (potassium voltage-gated channel subfamily J member 1)
EnsemblGeneIds (GRCh38): ENSG00000151704
EnsemblGeneIds (GRCh37): ENSG00000151704
OMIM: 600359, Gene2Phenotype
KCNJ1 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

PMID:23341834 report 2 girls with Bartter's Syndrome and amelogenesis imperfecta. In one case, BS was due to a A214V mutation in exon 5 of KCNJ1.
12 Jun 2017, 9:13 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Bartter syndrome, type 2, 241200
  • Amelogenesis Imperfecta
OMIM
600359
Clinvar variants
Variants in KCNJ1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KCNJ1 was added to Amelogenesis Imperfectapanel. Sources: Literature

12 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KCNJ1 was created by rfoulger