Joubert syndrome

Gene: TTC21B

Red List (low evidence)

TTC21B (tetratricopeptide repeat domain 21B)
EnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 11 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.
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

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

16 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

TTC21B was added to Joubert syndromepanel. Sources: Expert Review