Thoracic dystrophies

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

4 reviews

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820

Helen Brittain (Genomics England Curator)

I don't know

One case reported to date
Created: 26 May 2017, 7:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820

Helen Savage (Congenica Ltd)

I don't know

Only a single report in the literature.
Created: 23 Feb 2016, 4:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

31 May 2017, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

TTC21B was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

TTC21B was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TTC21B was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services