Skeletal dysplasia
Gene: TTC21BEnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Cilliopathies with major skeletal involvement gp of SDs, green - many recessive variants identified; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SRTD4; Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TTC21B; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 12 613820; Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Nephronophthisis 12, 613820
- Asphyxiating Thoracic Dystrophy
- SRTD4
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Nephronophthisis 12, 613820; Asphyxiating Thoracic Dystrophy; SRTD4 for gene: TTC21B
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to TTC21B.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)TTC21B was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services TTC21B was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen TTC21B was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory Model of inheritance for gene TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)TTC21B was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)TTC21B was created by sleigh