| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Renal ciliopathies v2.9 | ANKS6 | Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v2.9 | ANKS6 | Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v2.8 | ANKS6 | Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v2.8 | ANKS6 | Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, 615382; Nephronophthisis to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v2.7 | ANKS6 | Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to 34740236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v2.6 | ANKS6 | Achchuthan Shanmugasundram Added comment: Comment on publications: Additional cases (two affected siblings identified with biallelic ANKS6 variants and reported with late-onset chronic kidney disease) and functional studies in PMID:34740236. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v2.6 | ANKS6 | Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to 34740236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v2.5 | ANKS6 | Achchuthan Shanmugasundram Added comment: Comment on publications: Additional cases (two affected siblings identified with biallelic ANKS6 variants and reported with late-onset chronic kidney disease) and functional studies in PMID:34740236. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v2.5 | ANKS6 | Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v0.1 | ANKS6 |
Eleanor Williams gene: ANKS6 was added gene: ANKS6 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, 615382; Nephronophthisis |
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