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Skeletal dysplasia

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Cilliopathies with major skeletal involvement gp of SDs, green - many recessive variants identified; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SRTD4; Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TTC21B; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

History Filter Activity

6 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Nephronophthisis 12, 613820; Asphyxiating Thoracic Dystrophy; SRTD4 for gene: TTC21B

6 Mar 2019, Gel status: 3

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TTC21B.

9 Aug 2016, Gel status: 3

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

TTC21B was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services TTC21B was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen TTC21B was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory Model of inheritance for gene TTC21B was set to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TTC21B was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TTC21B was created by sleigh