Hereditary Spastic Paraplegia - paediatric
Gene: TBCEEnsemblGeneIds (GRCh38): ENSG00000116957
EnsemblGeneIds (GRCh37): ENSG00000116957
OMIM: 604934, Gene2Phenotype
TBCE is in 21 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 27666369 - 6 patients (4 families) with early-onset, progressive neurodegeneration encephalopathy with spinal muscular atrophy, supported by functional studies.
Patients present within the first 18 months of life, phenotypes include hypotonia (3/6), dev delay (6/6), signs of regression (6/6, distal amyotrophy, ataxia, spasticity)
Missense variant p.I155N is recurring, very rare in gnomAD.
Sources: Expert listCreated: 6 Jul 2020, 6:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, with amyotrophy and optic atrophy 617207
Publications
- PMID: 27666369
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Encephalopathy, progressive, with amyotrophy and optic atrophy 617207
- OMIM
- 604934
- Clinvar variants
- Variants in TBCE
- Penetrance
- None
- Publications
-
- PMID: 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbce has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: TBCE was added gene: TBCE was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to PMID: 27666369 Phenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy 617207 Review for gene: TBCE was set to GREEN