Optic Atrophy
Gene: TBCD

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy. Optic atrophy is not a consistent or prominent feature of this disorder.
Sources: Expert Review
Created: 24 Nov 2019, 6:26 a.m. | Last Modified: 16 Apr 2020, 12:36 a.m.

Panel Version: 0.87

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Nov 2019, 6:26 a.m.
Last Modified: 16 Apr 2020, 12:36 a.m.
Panel version: 0.87

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Expert Review
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

604649

Clinvar variants

Variants in TBCD

Penetrance

None

Publications

Panels with this gene