Skeletal dysplasia
Gene: TTC21BEnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 18 panels
3 reviews
Dean Phelan (Victorian Clinical Genetics Services)
Correcting typographical errorCreated: 7 Apr 2022, 2:13 a.m. | Last Modified: 7 Apr 2022, 2:13 a.m.
Panel Version: 0.12731
Updated to include additional publications linking glomerular disorder.Created: 7 Apr 2022, 2:02 a.m. | Last Modified: 7 Apr 2022, 2:02 a.m.
Panel Version: 0.12731
PMID: 35289079
- one family with two affected individuals with biallelic variants in TTC21B. Both siblings had severe early onset hypertension (>99th percentile), proteinuria and kidney failure (<5 years).
- still not green for proteinuria? Multiple families with nephrotic proteinuria
- already green for Renal ciliopathies and nephronophthisisCreated: 7 Apr 2022, 1:33 a.m. | Last Modified: 7 Apr 2022, 1:33 a.m.
Panel Version: 0.12720
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glomerular disorder (MONDO:0019722), TTC21B-related
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported with predominantly renal and skeletal features, mouse model. Weak evidence for association with Joubert syndrome.Created: 7 Jul 2021, 7:37 a.m. | Last Modified: 7 Jul 2021, 7:37 a.m.
Panel Version: 0.8239
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome
Publications
Crystle Lee (Victorian Clinical Genetics Services)
Weak evidence supporting gene as causative of JS.
PMID: 21258341; Davis 2011; Reported het variants in 3 JBTS patients however one of the missense variants, M1186V, present in gnomAD (10 hets) and multiple MKS patients. T231S in one MKS patient present in gnomAD 280 hets and 2 hom.Created: 17 May 2020, 11:23 p.m. | Last Modified: 17 May 2020, 11:23 p.m.
Panel Version: 0.62
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Phenotypes
-
- SRTD4
- Asphyxiating Thoracic Dystrophy
- Nephronophthisis 12, 613820
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- None
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Proteinuria
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Heterotaxy
- Mendeliome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TTC21B was added gene: TTC21B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC21B were set to SRTD4; Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820