Rare multisystem ciliopathy disorders
Gene: TTC21BAdded the watchlist_moi tag. It appears 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) but no current evidence that monoallelic variants alone are associated with disease.Created: 28 Sep 2022, 8:47 p.m. | Last Modified: 28 Sep 2022, 8:47 p.m.
Panel Version: 1.164
Comment when marking as ready: Offered on GOS ciliopathy panelCreated: 19 Jan 2017, 4:41 p.m.
Comment on list classification: 4 families with nephronophthisis and one with ?JeuneCreated: 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
Phenotypes
Nephronophthisis; Short-rib thoracic dysplasia 4 with or without polydactyly
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag watchlist_moi tag was added to gene: TTC21B.
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TTC21B was added to Rare multisystem ciliopathy disorderspanel. Source: Other
TTC21B was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
TTC21B was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
TTC21B was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Phenotypes for gene TTC21B were set to Nephronophthisis;Nephronophthisis 12, 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for TTC21B were set to Nephronophthisis
Publications for TTC21B were set to 27515926 (functional study in C. elegans); 21068128; 21258341; 24876116 (Focal segmental glomerulosclerosis)
Publications for TTC21B were set to 27515926 (functional study in C. elegans); 21068128; 21258341;24876116 (Focal segmental glomerulosclerosis)
Publications for TTC21B were set to 27515926 (functional study in C. elegans);21068128; 21258341
TTC21B was created by ellenmcdonagh
TTC21B was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list