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Skeletal Dysplasia_Fetal

Gene: TTC21B

Green List (high evidence)
TTC21B (tetratricopeptide repeat domain 21B)
EnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 18 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 families reported with Nephronophtisis, in addition to the families with skeletal ciliopathy.
Created: 18 Jul 2021, 3:17 a.m. | Last Modified: 18 Jul 2021, 3:17 a.m.
Panel Version: 0.304

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819

Publications

Created: 18 Jul 2021, 3:17 a.m.
Last Modified: 18 Jul 2021, 3:17 a.m.
Panel version: Imported from Fetal anomalies panel version Imported from Renal Ciliopathies and Nephronophthisis panel version 0.304

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple SRPS and JATD families reported

PMID: 29068549; Zhang 2018; Biallelic variants reported in 2 SRPS and 1 ATD families.

PMID: 25492405; McInerney-Leo 2015; 2 patients with Jeune ATD

PMID: 21258341; Davis 2011: 1 patient with JATD
Created: 18 May 2020, 1:22 a.m. | Last Modified: 18 May 2020, 1:22 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 4 with or without polydactyly (MIM#613819)

Publications

Created: 18 May 2020, 1:22 a.m.
Last Modified: 18 May 2020, 1:22 a.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.11

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Not ID gene.

To date, no individuals with Joubert syndrome and biallelic pathogenic variants in this gene have been reported. The functional significance of a single (heterozygous) pathogenic variant is unknown. No clinical information was provided on the 3 persons with a heterozygous change reported this gene, suggesting that TTC21B might be a common contributor to the total mutational load in ciliopathies.
Created: 5 Dec 2019, 11:34 a.m. | Last Modified: 5 Dec 2019, 11:34 a.m.
Panel Version: 0.519

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 12, OMIM #613820; Short-rib thoracic dysplasia 4 with or without polydactyly; OMIM #613819

Created: 5 Dec 2019, 11:34 a.m.
Last Modified: 5 Dec 2019, 11:34 a.m.
Panel version: Imported from Fetal anomalies panel version Imported from Intellectual disability syndromic and non-syndromic panel version 0.519

History Filter Activity

17 Nov 2019, Gel status: 3

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 Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTC21B was set to Unknown