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| Hereditary Spastic Paraplegia - paediatric v1.93 | TAF1C | Zornitza Stark Marked gene: TAF1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.93 | TAF1C | Zornitza Stark Gene: taf1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.93 | TAF1C | Zornitza Stark Classified gene: TAF1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.93 | TAF1C | Zornitza Stark Gene: taf1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.92 | TAF1C |
Sangavi Sivagnanasundram gene: TAF1C was added gene: TAF1C was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF1C were set to 40371665; 32779182 Phenotypes for gene: TAF1C were set to complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038 Review for gene: TAF1C was set to GREEN Added comment: 3 unrelated individuals with spasticity and hypotonia as a presenting feature. PMID: 40371665 3yrM with progressive neurodevelopmental regression born to non consanguineous parents. He presented with a range of phenotypes: - generalized tonic–clonic seizures - some abnormal brain MRI findings however preserved cognitive function - progressive spasticity, increased muscle tone in all limbs, tremors, chronic constipation, feeding difficulties - microcephalic, recurrent febrile episodes, splenomegaly and cerebellar atrophy Homozygous p.Ser589Leu variant was reported (not reported on MANE select) This variant is present in gnomAD v4.1, rare enough for AR gene (Ser563Leu - MANE select) NFE PopMax AF = 0.006%, 76 hets globally His unaffected parents were heterozygous for the variant (carriers). PMID: 32779182 Two individuals from two consanguineous families presenting with a range of neurodevelopmental features including spasticity and hypotonia Sources: Literature |
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