Renal ciliopathiesGene: TTC21B
Comment when marking as ready: Offered on GOS ciliopathy panel
Created: 19 Jan 2017, 4:41 p.m.
Comment on list classification: 4 families with nephronophthisis and one with ?Jeune
Created: 19 Jan 2017, 4:40 p.m.
Comment on list classification: Associated with Nephronophthisis which is a feature of Joubert syndrome and related disorders.
Created: 28 Aug 2016, 9:23 a.m.
On current diagnostic panel; no positive families in patient cohort to date. Evidence in the literature.
Created: 16 Mar 2016, 3:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Nephronophthisis; Short-rib thoracic dysplasia 4 with or without polydactyly
Variants in this GENE are reported as part of current diagnostic practice
gene: TTC21B was added gene: TTC21B was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Orphanet,Expert Review Green Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC21B were set to 21258341; 27515926 (functional study in C. elegans); 21068128; 24876116 (Focal segmental glomerulosclerosis) Phenotypes for gene: TTC21B were set to Nephronophthisis 12, 613820; Short-rib thoracic dysplasia 4 with or without polydactyly; Jeune syndrome; Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis