Ataxia - paediatric
Gene: TBCEEnsemblGeneIds (GRCh38): ENSG00000116957
EnsemblGeneIds (GRCh37): ENSG00000116957
OMIM: 604934, Gene2Phenotype
TBCE is in 21 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
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: LiteratureCreated: 27 Jan 2022, 12:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207
Publications
- PubMed: 27666369
Elena Savva (Victorian Clinical Genetics Services)
HRDS/KCS - most cases a recurrent 12-bp deletion, but also PTCs (OMIM)
EPAOA - hom miss and chet miss/PTCs (OMIM)
Missense proven LOFCreated: 21 Feb 2020, 4:46 a.m. | Last Modified: 21 Feb 2020, 4:46 a.m.
Panel Version: 0.1415
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1
Publications
- PMID: 27666369
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207
- OMIM
- 604934
- Clinvar variants
- Variants in TBCE
- Penetrance
- None
- Publications
-
- PubMed: 27666369
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Calcium and Phosphate disorders
- Prepair 1000+
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- Familial hypoparathyroidism
- Renal Tubulopathies and related disorders
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbce has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tbce has been classified as Green List (High Evidence).
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 Ataxia - paediatric. 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