Intellectual disability syndromic and non-syndromic
Gene: TBCE

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

1 review

Leanne Baxter (Other)

Green List (high evidence)

PMID:27666369 - early-onset and progressive neurodegenerative encephalopathy with distal spinal muscular atrophy caused by biallelic TBCE mutations, with a missense variant - c.464T>A (p.Ile155Asn) - occurring in the compound het/hom state in 6 affected subjects from four unrelated families (developmental delay, neurodegenerative disorder, hypotonia, motor regressive, loss of or inability to sit, distal amyotrophy, cognitively impaired, unable to speak, optic atrophy, thin corpus callosum and cerebellar atrophy) . Mouse model and functional studies of fibroblasts from affected individuals are included. Findings provide evidence that hypomorphic TBCE alleles primarily drive neurodegeneration. *c.464T>A is a founder variant of the Ischia Island region.
LoF variants in TBCE cause two rare neurodevelopmental syndromes, hypoparathyroidism-retardation-dysmorphism (HRDS; congenital hypoparathyroidism, intellectual disability, facial dysmorphism, and extreme growth failure) and Kenny-Caffey syndrome (overlaps HRDS with osteosclerosis and recurrent bacterial infections as additional features).

PMID: 34134906 - new case report of a compound het (c.464 T > A; p. (Ile155Asn) and c.924del; p. (Leu309Ter) Southern Italy (as above cases). Authors describe TBCE-related neurodegeneration characterized by unusual features of early developmental delay followed by progressive neurodegeneration.
Created: 21 May 2024, 5:18 a.m. | Last Modified: 21 May 2024, 5:18 a.m.

Panel Version: 0.5881

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207; Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410; Kenny-Caffey syndrome, type 1 MIM:244460

Publications

PMID:27666369: PMID:17699660: PMID:34356170: PMID: 34134906

Mode of pathogenicity
Other

Created: 21 May 2024, 5:18 a.m.
Last Modified: 21 May 2024, 5:18 a.m.
Panel version: 0.5881

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207
Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410

OMIM

604934

Clinvar variants

Variants in TBCE

Penetrance

None

Publications

Panels with this gene