Houge-Janssens syndrome 1: genes and variants
Houge-Janssens syndrome 1 is linked to 1 analyzed protein (PPP2R5D). 14 DNA variants are known to cause it; 29 more are uncertain, and 4 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Houge-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 disease-causing and 29 uncertain variants in PPP2R5D are linked to Houge-Janssens syndrome 1.
Known disease-causing variants in Houge-Janssens syndrome 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PPP2R5D W207R | 207 | Disease-causing (★★) | |
| PPP2R5D W207C | 207 | Disease-causing (★★) | |
| PPP2R5D D251H | 251 | Disease-causing (★★) | |
| PPP2R5D D251A | 251 | Disease-causing (★★) | |
| PPP2R5D E198K | 198 | Disease-causing (★★) | |
| PPP2R5D E200K | 200 | Disease-causing (★★) | |
| PPP2R5D R253P | 253 | Disease-causing (★★) | |
| PPP2R5D H209Y | 209 | Disease-causing (★★) | |
| PPP2R5D K145M | 145 | Disease-causing (★) | |
| PPP2R5D L203P | 203 | Disease-causing (★) | |
| PPP2R5D F131V | 131 | Disease-causing (★) | |
| PPP2R5D F217L | 217 | Disease-causing (★) | |
| PPP2R5D E197G | 197 | Disease-causing | |
| PPP2R5D P53S | 53 | Disease-causing |
Uncertain variants in Houge-Janssens syndrome 1 that look disease-causing
| 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 Houge-Janssens syndrome 1
- Genetic developmental and epileptic encephalopathy, also linked to PPP2R5D
Frequently asked questions
Which genes are linked to Houge-Janssens syndrome 1?
In CATVariant, Houge-Janssens syndrome 1 is linked to 1 analyzed protein: PPP2R5D (Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform).
How many genetic variants are linked to Houge-Janssens syndrome 1?
44 variants: 14 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 29 are of uncertain significance or have conflicting reports.
Which uncertain variants in Houge-Janssens syndrome 1 look disease-causing?
4 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example PPP2R5D D251N, PPP2R5D D251Y, PPP2R5D W207S and PPP2R5D D251V. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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