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Renal tubulopathies v3.3 KCNJ16 Sarah Leigh Tag Q2_22_rating was removed from gene: KCNJ16.
Renal tubulopathies v3.3 KCNJ16 Sarah Leigh reviewed gene: KCNJ16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Renal tubulopathies v3.2 KCNJ16 Sarah Leigh Source Expert Review Green was added to KCNJ16.
Source NHS GMS was added to KCNJ16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.54 KCNJ16 Eleanor Williams changed review comment from: Associated with Hypokalemic tubulopathy and deafness OMIM#619406 (AR)

PMID:33811157 - Schlingmann et al 2021 - unable to access publication. Abstract does not give numbers of cases but OMIM states that "In 8 patients, including 1 sib pair, with hypokalemic tubulopathy and deafness, Schlingmann et al. (2021) identified homozygous or compound heterozygous mutations in the KCNJ16 gene"

PMID:33840812 - Webb et al 2021 - report a homozygous loss-of-function variant identified by WES in KCNJ16 in a 2-year-old female with a hypokalemic metabolic acidosis phenotype.; to: Associated with Hypokalemic tubulopathy and deafness OMIM#619406 (AR)

PMID:33811157 - Schlingmann et al 2021 - report 8 patients from 7 families with hypokalemic tubulopathy and deafness. All patients had acidosis and sensorineural deafness. All were found to have homozygous or compound heterozygous variants in the KCNJ16 gene. 6 different variants were identified, either missense or nonsesnse.

PMID:33840812 - Webb et al 2021 - report a homozygous loss-of-function variant identified by WES in KCNJ16 c.142A>T; p.(Lys48*) in a 2-year-old female with a hypokalemic metabolic acidosis phenotype. No loss of hearing was noted.
Renal tubulopathies v2.54 KCNJ16 Eleanor Williams Classified gene: KCNJ16 as Amber List (moderate evidence)
Renal tubulopathies v2.54 KCNJ16 Eleanor Williams Gene: kcnj16 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v2.53 KCNJ16 Eleanor Williams Tag Q2_22_rating tag was added to gene: KCNJ16.
Renal tubulopathies v2.53 KCNJ16 Eleanor Williams Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Hypokalemic tubulopathy and deafness, OMIM:619406
Renal tubulopathies v2.52 KCNJ16 Eleanor Williams commented on gene: KCNJ16
Renal tubulopathies v2.50 KCNJ16 Julia Baptista reviewed gene: KCNJ16: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811157, 33840812; Phenotypes: Renal tubulopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v2.25 KCNJ16 Zornitza Stark gene: KCNJ16 was added
gene: KCNJ16 was added to Renal tubulopathies. Sources: Literature
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to Renal tubulopathy; deafness
Review for gene: KCNJ16 was set to GREEN
Added comment: 8 unrelated families reported.
Sources: Literature
Renal tubulopathies v1.131 KCNJ10 Eleanor Williams Classified gene: KCNJ10 as Green List (high evidence)
Renal tubulopathies v1.131 KCNJ10 Eleanor Williams Gene: kcnj10 has been classified as Green List (High Evidence).
Renal tubulopathies v1.130 KCNJ10 Eleanor Williams Publications for gene: KCNJ10 were set to
Renal tubulopathies v1.129 KCNJ10 Eleanor Williams Phenotypes for gene: KCNJ10 were changed from SESAME/EAST syndrome, 612780; Enlarged vestibular aqueduct, digenic, 600791 to SESAME/EAST syndrome, 612780
Renal tubulopathies v1.128 KCNJ10 Eleanor Williams 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
Renal tubulopathies v1.127 KCNJ10 Eleanor Williams Mode of inheritance for gene: KCNJ10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.82 KCNJ10 Eleanor Williams commented on gene: KCNJ10: Associated with SESAME syndrome #612780 in OMIM which includes a renal phenotype.

Many cases (> 3) reported in OMIM.
Renal tubulopathies v1.49 KCNJ10 Eleanor Williams Phenotypes for gene: KCNJ10 were changed from to SESAME/EAST syndrome, 612780; Enlarged vestibular aqueduct, digenic, 60079
Renal tubulopathies v1.48 KCNJ1 Eleanor Williams 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
Renal tubulopathies v1.16 KCNJ10 Eleanor Williams reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SESAME/EAST syndrome, MIM 612780, Enlarged vestibular aqueduct, digenic, MIM 600791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 KCNJ1 Eleanor Williams reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 2, MIM 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.15 KCNJ10 Eleanor Williams gene: KCNJ10 was added
gene: KCNJ10 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: KCNJ10 was set to
Renal tubulopathies v1.15 KCNJ1 Eleanor Williams Source NHS GMS was added to KCNJ1.
Rating Changed from Green List (high evidence) to Green List (high evidence)