Unexplained young onset end-stage renal disease
Gene: TTC21B
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.Created: 28 Sep 2022, 8:30 p.m. | Last Modified: 28 Sep 2022, 8:30 p.m.
Panel Version: 1.41
Comment on mode of inheritance: In OMIM both AR and AD are listed for Nephronophthisis 12.Created: 24 Oct 2019, 2:27 p.m. | Last Modified: 24 Oct 2019, 2:27 p.m.
Panel Version: 0.50
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 12:54 p.m. | Last Modified: 31 Jan 2023, 12:54 p.m.
Panel Version: 2.6
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported in Nephronophthisis 12 613820Created: 5 Aug 2016, 12:46 p.m.
Comment on phenotypes: Also associated with Short-rib thoracic dysplasia 4 with or without polydactyly 613819Created: 5 Aug 2016, 12:46 p.m.
Comment on list classification: Nephronophthisis.Created: 10 May 2016, 1:06 p.m.
Tag Q3_22_MOI was removed from gene: TTC21B. Tag Q3_22_expert_review was removed from gene: TTC21B.
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
Tag Q3_22_expert_review tag was added to gene: TTC21B.
Mode of inheritance for gene: TTC21B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_22_MOI tag was added to gene: TTC21B.
Mode of inheritance for gene: TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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