Amelogenesis imperfecta
Gene: KCNJ1

KCNJ1 (potassium voltage-gated channel subfamily J member 1)
EnsemblGeneIds (GRCh38): ENSG00000151704
EnsemblGeneIds (GRCh37): ENSG00000151704
OMIM: 600359, Gene2Phenotype
KCNJ1 is in 10 panels

1 review

Meaghan Wall (Victorian Clinical Genetics Services)

Red List (low evidence)

Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous variant in exon 5 of KCNJ1.
Created: 17 Jul 2021, 7:30 a.m. | Last Modified: 17 Jul 2021, 7:32 a.m.

Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta; Bartter syndrome

Publications

PMID: 23341834

Created: 17 Jul 2021, 7:30 a.m.
Last Modified: 17 Jul 2021, 7:32 a.m.
Panel version: 0.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Genomics England PanelApp

Phenotypes

Amelogenesis Imperfecta
Bartter syndrome, type 2, 241200

OMIM

600359

Clinvar variants

Variants in KCNJ1

Penetrance

None

Publications

23341834

Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj1 has been classified as Red List (Low Evidence).

7 May 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ1 was added gene: KCNJ1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ1 were set to 23341834 Phenotypes for gene: KCNJ1 were set to Amelogenesis Imperfecta; Bartter syndrome, type 2, 241200

Amelogenesis imperfecta Gene: KCNJ1