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Regression

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy.
Sources: Expert Review
Created: 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

24 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbcd has been classified as Green List (High Evidence).

24 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbcd has been classified as Green List (High Evidence).

24 Nov 2019, Gel status: 1

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