| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.31 | BHLHE22 | Bryony Thompson Marked gene: BHLHE22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.31 | BHLHE22 | Bryony Thompson Gene: bhlhe22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.31 | BHLHE22 | Bryony Thompson Classified gene: BHLHE22 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.31 | BHLHE22 | Bryony Thompson Gene: bhlhe22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.30 | BHLHE22 |
Bryony Thompson gene: BHLHE22 was added gene: BHLHE22 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BHLHE22 were set to 39502664 Phenotypes for gene: BHLHE22 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: BHLHE22 was set to GREEN Added comment: BHLHE22 is associated with hereditary spastic paraplegia phenotypes. Le2024 reports a single individual from one family with a de novo missense variant presenting with isolated adult‑onset lower‑limb spasticity; the evidence is insufficient for diagnostic‑grade classification. In addition, five families with a homozygous frameshift c.221_260del40 were reported, causing a recessive complicated hereditary spastic paraplegia with ACC, severe intellectual disability and spastic quadriplegia. Sources: Literature |
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