| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia v2.177 | PI4KA | Bryony Thompson Marked gene: PI4KA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.177 | PI4KA | Bryony Thompson Gene: pi4ka has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.177 | PI4KA | Bryony Thompson Classified gene: PI4KA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.177 | PI4KA | Bryony Thompson Gene: pi4ka has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.176 | PI4KA |
Bryony Thompson gene: PI4KA was added gene: PI4KA was added to Ataxia. Sources: Literature Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 39312004; 38003592 Phenotypes for gene: PI4KA were set to Neurodevelopmental disorder, MONDO:0700092; Syndromic disease, MONDO:0002254 Review for gene: PI4KA was set to GREEN Added comment: PI4KA encodes a phosphatidylinositol 4‑kinase; biallelic loss‑of‑function variants cause distinct recessive syndromes that feature early‑onset ataxia. Saettini2024 reports 13 unrelated families (12 independent) with biallelic PI4KA loss‑of‑function variants. Affected individuals present with childhood‑onset ataxia, developmental delay, seizures, limb spasticity, nystagmus and severe B‑cell immunodeficiency (lymphopenia, hypogammaglobulinemia). The prominent ataxia aligns with the Ataxia panel’s focus on cerebellar motor impairment. Martnezrubio2023 describes a single family (1 independent) harbouring compound heterozygous splice and missense PI4KA variants. The proband exhibits early‑onset spasticity, acute ataxia, hypomyelinating leukodystrophy and cerebellar atrophy, without immunodeficiency. The ataxia and cerebellar degeneration also fit the Ataxia panel. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||