Regression
Gene: TBCDEnsemblGeneIds (GRCh38): ENSG00000141556
EnsemblGeneIds (GRCh37): ENSG00000141556
OMIM: 604649, Gene2Phenotype
TBCD is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy.
Sources: Expert ReviewCreated: 24 Nov 2019, 6:26 a.m.
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 Green
- Expert Review
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbcd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbcd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TBCD was added gene: TBCD was added to Regression_VCGS. Sources: Expert Review 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, MIM#617193 Review for gene: TBCD was set to GREEN