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| Unexplained young onset end-stage renal disease v2.6 | TTC21B |
Sarah Leigh Tag Q3_22_MOI was removed from gene: TTC21B. Tag Q3_22_expert_review was removed from gene: TTC21B. |
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| Unexplained young onset end-stage renal disease v2.6 | TTC21B | Sarah Leigh commented on gene: TTC21B: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v2.5 | TTC21B |
Sarah Leigh Source NHS GMS was added to TTC21B. Mode of inheritance for gene TTC21B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal |
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| Unexplained young onset end-stage renal disease v1.41 | TTC21B | Eleanor Williams Tag Q3_22_expert_review tag was added to gene: TTC21B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.41 | TTC21B | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as Both mono and biallelic for now. It does appear that monoallelic variants are potential genetic modifiers and are found in combination with variants in other renal disease associated genes (see PMID: 26940125, PMID: 21258341) so seeking GMS review as to the best mode of inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.41 | TTC21B | Eleanor Williams Mode of inheritance for gene: TTC21B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.40 | TTC21B | Eleanor Williams Tag Q3_22_MOI tag was added to gene: TTC21B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.50 | TTC21B | Eleanor Williams Added comment: Comment on mode of inheritance: In OMIM both AR and AD are listed for Nephronophthisis 12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.50 | TTC21B | Eleanor Williams Mode of inheritance for gene: TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.2 | TTC21B | Eleanor Williams reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | TTC21B |
Eleanor Williams gene: TTC21B was added gene: TTC21B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC21B were set to Nephronophthisis 12 613820; Ciliopathy genes associated with cystic kidney disease |
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