Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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) |