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Fetal anomalies v6.153 CLCNKB Arina Puzriakova commented on gene: CLCNKB: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKB variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova changed review comment from: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.; to: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKA variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova commented on gene: CLCNKA: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova Tag digenic tag was added to gene: CLCNKA.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 for gene: CLCNKA
Fetal anomalies v6.150 CLCNKA Arina Puzriakova edited their review of gene: CLCNKA: Changed rating: GREEN
Fetal anomalies v6.149 CLCNKA Arina Puzriakova commented on gene: CLCNKA: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 CLCNKA Arina Puzriakova commented on gene: CLCNKA
Fetal anomalies v6.147 CLCNKA Tessa Homfray reviewed gene: CLCNKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CLCNKA Arina Puzriakova gene: CLCNKA was added
gene: CLCNKA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.103 CLCNKB Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.