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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 6 panels

2 reviews

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

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

History Filter Activity

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