Renal ciliopathies

Gene: TTC21B

Green List (high evidence)

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

3 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Offered on GOS ciliopathy panel
Created: 19 Jan 2017, 4:41 p.m.
Comment on list classification: 4 families with nephronophthisis and one with ?Jeune
Created: 19 Jan 2017, 4:40 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Associated with Nephronophthisis which is a feature of Joubert syndrome and related disorders.
Created: 28 Aug 2016, 9:23 a.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 12, 613820
  • Short-rib thoracic dysplasia 4 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
  • Nephronophthisis
OMIM
612014
Clinvar variants
Variants in TTC21B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TTC21B was added gene: TTC21B was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Orphanet,Expert Review Green Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC21B were set to 21258341; 27515926 (functional study in C. elegans); 21068128; 24876116 (Focal segmental glomerulosclerosis) Phenotypes for gene: TTC21B were set to Nephronophthisis 12, 613820; Short-rib thoracic dysplasia 4 with or without polydactyly; Jeune syndrome; Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis