Activity
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11 actions
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| Fetal anomalies v5.16 | CLCN5 | Achchuthan Shanmugasundram commented on gene: CLCN5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | CLCN5 | Elizabeth Scotchman reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: ; Publications: 36307859, 38267993, 37229200, 36495297; Phenotypes: Nephrolithiasis, type I, MIM#310468, Dent disease, MIM#300009, Hypophosphatemic rickets, MIM#300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | CLCN5 |
Achchuthan Shanmugasundram Source NHS GMS was added to CLCN5. Publications for gene: CLCN5 were updated from 36307859; 36495297; 37229200 to 36495297; 38267993; 36307859; 37229200 |
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| Fetal anomalies v4.9 | CLCN5 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.; to: Comment on list classification: As reviewed by Sarah Graham, this gene has been rated red in this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.9 | CLCN5 | Achchuthan Shanmugasundram Classified gene: CLCN5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.9 | CLCN5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.9 | CLCN5 | Achchuthan Shanmugasundram Gene: clcn5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.8 | CLCN5 | Achchuthan Shanmugasundram Classified gene: CLCN5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.8 | CLCN5 | Achchuthan Shanmugasundram Gene: clcn5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.4 | CLCN5 | Sarah Leigh Phenotypes for gene: CLCN5 were changed from to Dent disease 1, OMIM:300009; Hypophosphatemic rickets, OMIM:300554; Nephrolithiasis, type I, OMIM:310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.3 | CLCN5 |
Sarah Graham gene: CLCN5 was added gene: CLCN5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CLCN5 were set to 36307859; 36495297; 37229200 Review for gene: CLCN5 was set to RED Added comment: Loss-of-function variants associated with X-linked recessive renal tubular disorders. Maternally inherited hemizygous splice variant, c.934-1G>T, reported in 3 male fetuses with variable phenotypes across 3 studies from the same centre. Phenotypes in reported cases: polyhydramnios and large size for gestational age (Fu 2022 PMID: 36307859, case 229); growth restriction, polyhydramnios, pre-term birth at 31 weeks (Zhou 2023 PMID: 36495297, patient 5); microcephaly (Wang 2023 PMID: 37229200, patient 18). No definitive evidence that this variant is pathogenic. As all prenatal reports are of the same variant and from the same centre, concern that these may be incidental findings due to variant frequency in the local population (variant absent from gnomAD). Sources: Literature |
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