Limb disorders
Gene: TTC21B
TTC21B (tetratricopeptide repeat domain 21B)
EnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:14 p.m.
Details
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- Tags
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Retinal disorders
- Fetal anomalies
- Clefting
- Extreme early-onset hypertension
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TTC21B.
11 Dec 2018, Gel status: 0
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Comment on list classification
2 Dec 2018, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ttc21b has been removed from the panel.
2 Dec 2018, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ttc21b has been removed from the panel.
2 Dec 2018, Gel status: 0
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to TTC21B. Rating Changed from Red List (low evidence) to No List (delete)
13 Aug 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TTC21B was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
13 Aug 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)TTC21B was created by Ellen McDonagh