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| Monogenic hearing loss v3.7 | KCNJ16 | Arina Puzriakova Tag Q2_22_rating was removed from gene: KCNJ16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.7 | KCNJ16 | Arina Puzriakova reviewed gene: KCNJ16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.6 | KCNJ16 |
Arina Puzriakova Source NHS GMS was added to KCNJ16. Source Expert Review Green was added to KCNJ16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v2.246 | KCNJ16 |
Eleanor Williams Tag watchlist was removed from gene: KCNJ16. Tag Q2_22_rating tag was added to gene: KCNJ16. |
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| Monogenic hearing loss v2.246 | KCNJ16 | Eleanor Williams changed review comment from: Comment on list classification: Rating this gene as amber, 7 cases reported in PMID:33811157 but details of the nature of the hearing loss could not be obtained due to inaccessibility of the publication.; to: Comment on list classification: Rating this gene as amber, but with a recommendation of green rating following GMS review. 7 families reported in PMID:33811157 with hearing loss developing in affected individuals in childhood or adolescence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.246 | 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". Details of the hearing loss could not be acertained. 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. Hearing loss is NOT mentioned. Sources: Literature; 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. Hearing loss was diagnosed in childhood or adolescence. All were found to have homozygous or compound heterozygous variants in the KCNJ16 gene. 6 different variants were identified, either missense or nonsesnse. Functional studies showed that variants affect the function of heteromeric potassium channels. 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. Hearing loss is NOT mentioned. Sources: Literature |
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| Monogenic hearing loss v2.246 | KCNJ16 | Eleanor Williams changed review comment from: Comment on list classification: Rating this gene as amber, 7 cases reported in PMID:33811157 but details of how many had hearing loss or the details of the nature of the hearing loss could not be obtained due to inaccessibility of the publication.; to: Comment on list classification: Rating this gene as amber, 7 cases reported in PMID:33811157 but details of the nature of the hearing loss could not be obtained due to inaccessibility of the publication. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.246 | KCNJ16 | Eleanor Williams Classified gene: KCNJ16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.246 | KCNJ16 | Eleanor Williams Added comment: Comment on list classification: Rating this gene as amber, 7 cases reported in PMID:33811157 but details of how many had hearing loss or the details of the nature of the hearing loss could not be obtained due to inaccessibility of the publication. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.246 | KCNJ16 | Eleanor Williams Gene: kcnj16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.245 | KCNJ16 |
Eleanor Williams gene: KCNJ16 was added gene: KCNJ16 was added to Hearing loss. Sources: Literature watchlist tags were added to gene: KCNJ16. 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 Hypokalemic tubulopathy and deafness, OMIM:619406 Review for gene: KCNJ16 was set to AMBER Added comment: 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". Details of the hearing loss could not be acertained. 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. Hearing loss is NOT mentioned. Sources: Literature |
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