Glaucoma (developmental)
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
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; 613819
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- Complete
- Panels with this gene
-
- Tubulointerstitial kidney disease
- Skeletal dysplasia
- Limb disorders
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Retinal disorders
- Proteinuric renal disease
- Extreme early-onset hypertension
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Clefting
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Skeletal ciliopathies
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)TTC21B was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory