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  3. TBCD
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Arthrogryposis

Gene: TBCD

Red List (low evidence)
TBCD (tubulin folding cofactor D)
EnsemblGeneIds (GRCh38): ENSG00000141556
EnsemblGeneIds (GRCh37): ENSG00000141556
OMIM: 604649, Gene2Phenotype
TBCD is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Maintaining the Red rating on this panel as curation of published literature revealed only a single report of an individual with multiple arthrogryposis (individual II-2 from PMID:27666374). This disorder is better represented by other panels for which this gene is already Green (Genetic epilepsy syndromes, Intellectual disability, etc).
Created: 4 Jan 2021, 3:53 p.m. | Last Modified: 4 Jan 2021, 3:53 p.m.
Panel Version: 3.36
Created: 4 Jan 2021, 3:53 p.m.
Last Modified: 4 Jan 2021, 3:53 p.m.
Panel version: 3.36

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Arthrogryposis is a reported feature.
Created: 12 Jul 2020, 11:05 a.m. | Last Modified: 12 Jul 2020, 11:05 a.m.
Panel Version: 3.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM# 617193

Publications

Created: 12 Jul 2020, 11:05 a.m.
Last Modified: 12 Jul 2020, 11:05 a.m.
Panel version: 3.11

Rebecca Foulger (Genomics England curator)

I don't know

Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Created: 26 Nov 2019, 3:16 p.m.
Last Modified: 26 Nov 2019, 3:16 p.m.
Panel version: 2.64

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
OMIM
604649
Clinvar variants
Variants in TBCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646

4 Jan 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TBCD were set to

4 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tbcd has been classified as Red List (Low Evidence).

4 Jan 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: TBCD was changed from to BIALLELIC, autosomal or pseudoautosomal

26 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: TBCD was added gene: TBCD was added to Arthrogryposis. Sources: Expert Review Red Mode of inheritance for gene: TBCD was set to