| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.67 | ESAM | Bryony Thompson Marked gene: ESAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.67 | ESAM | Bryony Thompson Gene: esam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.67 | ESAM | Bryony Thompson Classified gene: ESAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.67 | ESAM | Bryony Thompson Gene: esam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.66 | ESAM |
Bryony Thompson gene: ESAM was added gene: ESAM was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to 42265826; 41525715; 38008937; 36996813 Phenotypes for gene: ESAM were set to neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, MONDO:0957267 Review for gene: ESAM was set to GREEN Added comment: PMID 36996813 described 13 individuals from eight families (four independent) with biallelic loss‑of‑function ESAM variants; PMID 42265826 contributed one additional consanguineous family and PMID 41525715 added two further families, giving a total of 11 families whose probands present with intracranial haemorrhage, ventriculomegaly, cerebral calcifications, seizures and spasticity, a phenotype that meets the core feature of hereditary spastic paraplegia. Endothelial cell functional studies show loss of ESAM protein and impaired tubulogenesis. Sources: Literature |
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