Joubert syndrome
Gene: TTC21B

TTC21B (tetratricopeptide repeat domain 21B)
EnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels

1 review

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; no positive families in patient cohort to date. Evidence in the literature.
Created: 16 Mar 2016, 3:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis; Short-rib thoracic dysplasia 4 with or without polydactyly

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Mar 2016, 3:54 p.m.

Panel version: 0.39

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Nephronophthisis 12
Short-rib thoracic dysplasia 4 with or without polydactyly

OMIM

612014

Clinvar variants

Variants in TTC21B

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

16 Mar 2016, Gel status: 0

Created

Penny Clouston (Oxford)

TTC21B was created by PennyC