| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.45 | CLDN11 | Bryony Thompson Marked gene: CLDN11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.45 | CLDN11 | Bryony Thompson Gene: cldn11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.45 | CLDN11 | Bryony Thompson Classified gene: CLDN11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.45 | CLDN11 | Bryony Thompson Gene: cldn11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.44 | CLDN11 |
Bryony Thompson gene: CLDN11 was added gene: CLDN11 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN11 were set to 33313762 Phenotypes for gene: CLDN11 were set to leukodystrophy, hypomyelinating, 22, MONDO:0025701 Review for gene: CLDN11 was set to AMBER Added comment: PMID 33313762 reports 3 individuals from 3 families with de novo heterozygous stop‑loss CLDN11 variants presenting with early‑onset hypomyelinating leukodystrophy characterised by lower‑limb spasticity, dysarthria and hypermetropia. The lower‑limb spasticity aligns with the Hereditary Spastic Paraplegia panel’s focus on spasticity disorders. Functional evidence is limited to RNA expression and protein‑modelling of a C‑terminal extension. Sources: Literature |
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