Cerebellar and Pontocerebellar Hypoplasia

Gene: TBCE

Green List (high evidence)

TBCE (tubulin folding cofactor E)
EnsemblGeneIds (GRCh38): ENSG00000116957
EnsemblGeneIds (GRCh37): ENSG00000116957
OMIM: 604934, Gene2Phenotype
TBCE is in 21 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

5 patients from 3 unrelated Italian families with progressive encephalopathy with amyotrophy and optic atrophy (PEAMO), and biallelic variants in TCBE gene (WES or Sanger). PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy.
Sources: Literature
Created: 27 Jan 2022, 12:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207

Publications

History Filter Activity

27 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

27 Jan 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: TBCE was added gene: TBCE was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to PubMed: 27666369 Phenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207 Review for gene: TBCE was set to GREEN