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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) |
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| 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. |
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| Renal tubulopathies v2.54 | KCNJ16 | Eleanor Williams Classified gene: KCNJ16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.54 | KCNJ16 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber with a recommendation of green rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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