Hereditary Spastic Paraplegia - paediatric
Gene: TBCE
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
Gene: tbce has been classified as Green List (High Evidence).
Gene: tbce has been classified as Green List (High Evidence).
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