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Mackenzie's Mission_Reproductive Carrier Screening

Gene: TBCD

Green List (high evidence)

TBCD (tubulin folding cofactor D)
EnsemblGeneIds (GRCh38): ENSG00000141556
EnsemblGeneIds (GRCh37): ENSG00000141556
OMIM: 604649, Gene2Phenotype
TBCD is in 12 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
OMIM
604649
Clinvar variants
Variants in TBCD
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBCD was added gene: TBCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive