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Cerebral Palsy

Gene: TBCD

Red List (low evidence)

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

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

Single individual with homozygous missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically, spastic quadriplegia, DD, ID, regression, focal epilepsy, cerebral atrophy, atrophy corpus callosum and brainstem. Initially diagnosed with CP.
Sources: Literature
Created: 3 Sep 2024, 4:37 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 Red
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

24 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbcd has been classified as Red List (Low Evidence).

24 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbcd has been classified as Red List (Low Evidence).

3 Sep 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: TBCD was added gene: TBCD was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCD were set to PMID: 39213953 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 RED