| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.83 | HTRA1 | Bryony Thompson Marked gene: HTRA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.83 | HTRA1 | Bryony Thompson Gene: htra1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.83 | HTRA1 | Bryony Thompson Classified gene: HTRA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.83 | HTRA1 | Bryony Thompson Gene: htra1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.82 | HTRA1 |
Bryony Thompson gene: HTRA1 was added gene: HTRA1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA1 were set to 42016333; 36530220; 35841197; 35441934; 32042911; 25957642; 20437615 Phenotypes for gene: HTRA1 were set to CARASIL syndrome, MONDO:0010829 Review for gene: HTRA1 was set to GREEN Added comment: Three independent families with autosomal recessive CARASIL syndrome caused by loss‑of‑function HTRA1 variants are reported: a Chinese family with homozygous p.L364P (PMID 35841197), a Pakistani family with homozygous p.A173T (PMID 25957642), and a Chinese family with homozygous splice‑site c.472+2T>C (PMID 35441934). All families present with early‑onset spastic gait, leukoencephalopathy, alopecia, stroke and cognitive decline. Others reported with spasticity. Sources: Literature |
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