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| Renal tubulopathies v2.34 | CLDN10 | Eleanor Williams Phenotypes for gene: CLDN10 were changed from Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, OMIM:617671 to Hypokalemic-alkalotic salt-losing tubulopathy; HELIX syndrome, OMIM:617671 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.33 | CLDN10 | Eleanor Williams Phenotypes for gene: CLDN10 were changed from Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, 617671 to Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, OMIM:617671 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.32 | CLDN10 | Eleanor Williams Tag for-review was removed from gene: CLDN10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.32 | CLDN10 | Eleanor Williams commented on gene: CLDN10: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.31 | CLDN10 |
Eleanor Williams Source Expert Review Green was added to CLDN10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Renal tubulopathies v2.16 | CLDN10 | Catherine Snow Classified gene: CLDN10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.16 | CLDN10 | Catherine Snow Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.16 | CLDN10 | Catherine Snow Gene: cldn10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.13 | CLDN10 | Eleanor Williams Tag for-review tag was added to gene: CLDN10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.9 | CLDN10 | Catherine Snow Classified gene: CLDN10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.9 | CLDN10 | Catherine Snow Added comment: Comment on list classification: Following additional review from Zornitza and review in PMID: 31671507 relating to CLDN10 and HELIX syndrome. Enough evidence to promote CLDN10 to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.9 | CLDN10 | Catherine Snow Gene: cldn10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.8 | CLDN10 | Catherine Snow Publications for gene: CLDN10 were set to 19307729 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.0 | CLDN10 | Zornitza Stark reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome, MIM# 617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.99 | CLDN10 | Eleanor Williams Classified gene: CLDN10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.99 | CLDN10 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. Two cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.99 | CLDN10 | Eleanor Williams Gene: cldn10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.98 | CLDN10 | Eleanor Williams Mode of inheritance for gene: CLDN10 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | CLDN10 |
Eleanor Williams changed review comment from: Associated with HELIX syndrome 617671 in OMIM. This disorder is characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis. PMID: 28674042 - Bongers et al 2017 - characterized CLDN10 mutations in two unrelated patients with a hypokalemic-alkalotic salt-losing nephropathy. In both compound heterozygous variants were found [c.446C>G (p.Pro149Arg) and c.465-1G>A (p.Glu157_Tyr192del)] and [c.446C>G (p.(Pro149Arg) and c.217G>A (p.Asp73Asn)]. Variants segregated with the disorder in both families. The identified CLDN10 sequence variants were not reported in the Exome Aggregation Consortium database. PMID: 19307729 - paper unrelated to CLDN10; to: Associated with HELIX syndrome 617671 in OMIM. This disorder is characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis. 3 cases reported in OMIM. PMID: 28674042 - Bongers et al 2017 - characterized CLDN10 mutations in two unrelated patients with a hypokalemic-alkalotic salt-losing nephropathy. In both compound heterozygous variants were found [c.446C>G (p.Pro149Arg) and c.465-1G>A (p.Glu157_Tyr192del)] and [c.446C>G (p.(Pro149Arg) and c.217G>A (p.Asp73Asn)]. Variants segregated with the disorder in both families. The identified CLDN10 sequence variants were not reported in the Exome Aggregation Consortium database. PMID: 19307729 - paper unrelated to CLDN10 |
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| Renal tubulopathies v1.82 | CLDN10 |
Eleanor Williams edited their review of gene: CLDN10: Added comment: Associated with HELIX syndrome 617671 in OMIM. This disorder is characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis. PMID: 28674042 - Bongers et al 2017 - characterized CLDN10 mutations in two unrelated patients with a hypokalemic-alkalotic salt-losing nephropathy. In both compound heterozygous variants were found [c.446C>G (p.Pro149Arg) and c.465-1G>A (p.Glu157_Tyr192del)] and [c.446C>G (p.(Pro149Arg) and c.217G>A (p.Asp73Asn)]. Variants segregated with the disorder in both families. The identified CLDN10 sequence variants were not reported in the Exome Aggregation Consortium database. PMID: 19307729 - paper unrelated to CLDN10; Changed phenotypes: Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number), HELIX syndrome, MIM 617671 |
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| Renal tubulopathies v1.72 | CLDN10 | Eleanor Williams Phenotypes for gene: CLDN10 were changed from to Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, 617671 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.71 | CLDN10 | Eleanor Williams Publications for gene: CLDN10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | CLDN10 | Eleanor Williams reviewed gene: CLDN10: Rating: AMBER; Mode of pathogenicity: ; Publications: Bongers et al 2017 J Am Soc Nephrol 28 (10): 3118-3128. PMID 19307729; Phenotypes: Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number), HELIX syndrome, MIM 617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | CLDN10 |
Eleanor Williams gene: CLDN10 was added gene: CLDN10 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CLDN10 was set to |
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