Hogue-Janssens syndrome 1: genes and variants
Explore variant evidence for Hogue-Janssens syndrome 1 across 1 analyzed protein (PPP2R5D). Linked ClinVar records include 14 pathogenic or likely pathogenic variants, 20 variants of uncertain significance and 9 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Hogue-Janssens syndrome 1
PPP2R5D: Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform
It directs the PP2A phosphatase toward specific signaling substrates in neurons and other cells, helping control phosphorylation-dependent growth and synaptic pathways. De novo pathogenic variants cause Jordan's syndrome, with developmental delay, intellectual disability, hypotonia, and often macrocephaly.
14 ClinVar pathogenic / likely pathogenic and 29 uncertain variants in PPP2R5D have source records linked to Hogue-Janssens syndrome 1. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Hogue-Janssens syndrome 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PPP2R5D W207R | 207 | Pathogenic / likely pathogenic (★★) | |
| PPP2R5D W207C | 207 | Pathogenic / likely pathogenic (★★) | |
| PPP2R5D D251H | 251 | Pathogenic / likely pathogenic (★★) | |
| PPP2R5D D251A | 251 | Pathogenic / likely pathogenic (★★) | |
| PPP2R5D E198K | 198 | Pathogenic / likely pathogenic (★★) | |
| PPP2R5D E200K | 200 | Pathogenic / likely pathogenic (★★) | |
| PPP2R5D R253P | 253 | Pathogenic / likely pathogenic (★★) | |
| PPP2R5D H209Y | 209 | Pathogenic / likely pathogenic (★★) | |
| PPP2R5D K145M | 145 | Pathogenic / likely pathogenic (★) | |
| PPP2R5D L203P | 203 | Pathogenic / likely pathogenic (★) | |
| PPP2R5D F131V | 131 | Pathogenic / likely pathogenic (★) | |
| PPP2R5D F217L | 217 | Pathogenic / likely pathogenic (★) | |
| PPP2R5D E197G | 197 | Pathogenic / likely pathogenic | |
| PPP2R5D P53S | 53 | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Hogue-Janssens syndrome 1
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| PPP2R5D D251N | 251 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; D251H at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 | |
| PPP2R5D D251Y | 251 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; D251H at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 | |
| PPP2R5D W207S | 207 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; W207R at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 | |
| PPP2R5D D251V | 251 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; D251H at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 |
Diseases related to Hogue-Janssens syndrome 1
- Genetic developmental and epileptic encephalopathy, also linked to PPP2R5D
Frequently asked questions
Which genes have records linked to Hogue-Janssens syndrome 1?
This view contains 1 analyzed proteins: PPP2R5D. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 14 pathogenic or likely pathogenic variants, 20 variants of uncertain significance and 9 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 4 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 52 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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