Thoracic dystrophies
Gene: TTC21BEnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
4 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820
Helen Brittain (Genomics England Curator)
One case reported to dateCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4
Hannah Mitchison (UCL and GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820
Helen Savage (Congenica Ltd)
Only a single report in the literature.Created: 23 Feb 2016, 4:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 4 with or without polydactyly; Nephronophthisis 12
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Asphyxiating Thoracic Dystrophy
- Nephronophthisis 12, 613820
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Limb disorders
- Clefting
- Retinal disorders
- Extreme early-onset hypertension
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)TTC21B was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)TTC21B was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)TTC21B was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services