Optic Atrophy

Gene: TBCD

Amber List (moderate evidence)

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

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

History Filter Activity

16 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbcd has been classified as Amber List (Moderate Evidence).

16 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193

16 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBCD were set to

16 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbcd has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBCD was added gene: TBCD was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBCD was set to Unknown