Rare multisystem ciliopathy disorders
Gene: TTC21BEnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
4 reviews
Eleanor Williams (Genomics England Curator)
Added 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
Alice Gardham (Genomics England)
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.
Ellen McDonagh (Genomics England Curator)
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.
Penny Clouston (Oxford)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Nephronophthisis
- Nephronophthisis 12, 613820
- Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
- Jeune syndrome
- Short-rib thoracic dysplasia 4 with or without polydactyly
- Tags
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Retinal disorders
- Clefting
- Extreme early-onset hypertension
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag watchlist_moi tag was added to gene: TTC21B.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TTC21B was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)TTC21B was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)TTC21B was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)TTC21B was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene TTC21B were set to Nephronophthisis;Nephronophthisis 12, 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TTC21B were set to Nephronophthisis
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TTC21B were set to 27515926 (functional study in C. elegans); 21068128; 21258341; 24876116 (Focal segmental glomerulosclerosis)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TTC21B were set to 27515926 (functional study in C. elegans); 21068128; 21258341;24876116 (Focal segmental glomerulosclerosis)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TTC21B were set to 27515926 (functional study in C. elegans);21068128; 21258341
Created
Ellen McDonagh (Genomics England Curator)TTC21B was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TTC21B was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list