Arthrogryposis
Gene: TBCD
TBCD (tubulin folding cofactor D)
EnsemblGeneIds (GRCh38): ENSG00000141556
EnsemblGeneIds (GRCh37): ENSG00000141556
OMIM: 604649, Gene2Phenotype
TBCD is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000141556
EnsemblGeneIds (GRCh37): ENSG00000141556
OMIM: 604649, Gene2Phenotype
TBCD is in 12 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
- OMIM
- 604649
- Clinvar variants
- Variants in TBCD
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
2 Sep 2020, Gel status: 3
Removed Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag umccr was removed from gene: TBCD.
16 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbcd has been classified as Green List (High Evidence).
16 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbcd has been classified as Green List (High Evidence).
16 Jan 2020, Gel status: 1
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tiong Tan (Victorian Clinical Genetics Services)gene: TBCD was added gene: TBCD was added to Arthrogryposis. Sources: Literature umccr tags were added to gene: TBCD. Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCD were set to 27666370; 27666374 Phenotypes for gene: TBCD were set to ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM Penetrance for gene: TBCD were set to Complete Review for gene: TBCD was set to GREEN