Renal tubulopathies
Gene: KCNJ1
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: KCNJ1; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 2, MIM 241200
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type 2 Bartter syndrome; often initial transient hyperkalemia
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Known expert and in Eligibility statement prior genetic testingCreated: 10 May 2016, 11:05 a.m.
Comment on list classification: ALKALOSIS ?Created: 10 May 2016, 10:59 a.m.
Phenotypes for gene: KCNJ1 were changed from Hypokalaemic alkalosis with hypercalciuria; Type 2 Bartter syndrome; often initial transient hyperkalemia to Hypokalaemic alkalosis with hypercalciuria; Type 2 Bartter syndrome; often initial transient hyperkalemia; Bartter syndrome, type 2, 241200
Source NHS GMS was added to KCNJ1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for KCNJ1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for KCNJ1 were set to Hypokalaemic alkalosis with hypercalciuria; Type 2 Bartter syndrome; often initial transient hyperkalemia
KCNJ1 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing