Activity
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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 v6.153 | CLCNKB | Arina Puzriakova Publications for gene: CLCNKB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.152 | CLCNKB | Arina Puzriakova Tag digenic tag was added to gene: CLCNKB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CLCNKB | Arina Puzriakova Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter syndrome, type 3, OMIM:607364 for gene: CLCNKB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.150 | CLCNKB | Arina Puzriakova edited their review of gene: CLCNKB: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.149 | CLCNKB | Arina Puzriakova commented on gene: CLCNKB: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | CLCNKB | Arina Puzriakova commented on gene: CLCNKB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | CLCNKB | Tessa Homfray reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090, Bartter syndrome, type 3, OMIM:607364; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.143 | CLCNKB |
Arina Puzriakova Source Expert Review Green was added to CLCNKB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.36 | CLCNKB | Achchuthan Shanmugasundram commented on gene: CLCNKB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CLCNKB | Denise Williams reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, OMIM:607364, Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.103 | CLCNKB | Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.103 | CLCNKB | Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.101 | CLCNKB | Sarah Leigh Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLCNKB | Rebecca Foulger reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CLCNKB |
Rebecca Foulger gene: CLCNKB was added gene: CLCNKB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B |
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