Proteinuria
Gene: TTC21BEnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 18 panels
3 reviews
Dean Phelan (Victorian Clinical Genetics Services)
Multiple publications with numerous families with glomerular disorder.Created: 7 Apr 2022, 2:09 a.m. | Last Modified: 7 Apr 2022, 2:09 a.m.
Panel Version: 0.181
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glomerular disorder (MONDO:0019722), TTC21B-related
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
No specific link between nephronophthisis and proteinuria identified.Created: 20 Dec 2019, 3:21 a.m. | Last Modified: 7 Apr 2022, 3:43 a.m.
Panel Version: 0.184
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 12, MIM#613820
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Glomerular disorder (MONDO:0019722), TTC21B-related
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- None
- Publications
- 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
- Skeletal Dysplasia_Fetal
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Heterotaxy
- Mendeliome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TTC21B were changed from Nephronophthisis 12, MIM#613820 to Glomerular disorder (MONDO:0019722), TTC21B-related
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TTC21B were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttc21b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttc21b has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM#613820
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttc21b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TTC21B was added gene: TTC21B was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTC21B was set to Unknown