Renal tubulopathies
Gene: KCNJ10
Comment on list classification: Changing rating from red to green as more than 3 cases reported in OMIM.Created: 5 Sep 2019, 3:43 p.m. | Last Modified: 5 Sep 2019, 3:43 p.m.
Panel Version: 1.131
Comment on phenotypes: Removed phenotype that does not have renal presentationCreated: 5 Sep 2019, 3:42 p.m. | Last Modified: 5 Sep 2019, 3:42 p.m.
Panel Version: 1.129
Associated with SESAME syndrome #612780 in OMIM which includes a renal phenotype.
Many cases (> 3) reported in OMIM.Created: 30 Aug 2019, 4:30 p.m. | Last Modified: 30 Aug 2019, 4:30 p.m.
Panel Version: 1.82
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: KCNJ10; 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
SESAME/EAST syndrome, MIM 612780; Enlarged vestibular aqueduct, digenic, MIM 600791
Variants in this GENE are reported as part of current diagnostic practice
Gene: kcnj10 has been classified as Green List (High Evidence).
Publications for gene: KCNJ10 were set to
Phenotypes for gene: KCNJ10 were changed from SESAME/EAST syndrome, 612780; Enlarged vestibular aqueduct, digenic, 600791 to SESAME/EAST syndrome, 612780
Phenotypes for gene: KCNJ10 were changed from SESAME/EAST syndrome, 612780; Enlarged vestibular aqueduct, digenic, 60079 to SESAME/EAST syndrome, 612780; Enlarged vestibular aqueduct, digenic, 600791
Mode of inheritance for gene: KCNJ10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were changed from to SESAME/EAST syndrome, 612780; Enlarged vestibular aqueduct, digenic, 60079
gene: KCNJ10 was added gene: KCNJ10 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: KCNJ10 was set to