Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency: genes and variants
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is linked to 1 analyzed protein (SETD5). 8 DNA variants are known to cause it; 80 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
SETD5: Histone-lysine N-methyltransferase SETD5
It participates in chromatin-associated transcriptional regulation and is especially important during neurodevelopment. Haploinsufficiency causes a neurodevelopmental disorder with intellectual disability, speech delay, behavioral abnormalities, and variable congenital anomalies.
8 disease-causing and 80 uncertain variants in SETD5 are linked to Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency.
Where Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency variants cluster
- SETD5 SET (positions 269–390): 6 of 8 disease-causing changes, 8.9× more than its size predicts.
Known disease-causing variants in Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SETD5 F324L | 324 | SET | Disease-causing (★★) |
| SETD5 G344D | 344 | SET | Disease-causing (★★) |
| SETD5 L292S | 292 | SET | Disease-causing (★) |
| SETD5 R361P | 361 | SET | Disease-causing (★) |
| SETD5 A347T | 347 | SET | Disease-causing (★) |
| SETD5 C354R | 354 | SET | Disease-causing (★) |
| SETD5 V1066G | 1066 | Disease-causing (★) | |
| SETD5 D1211N | 1211 | Disease-causing (★) |
Uncertain variants in Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| SETD5 G344S | 344 | SET | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; G344D at the same position is pathogenic; seen in 6.7e-06 of gnomAD DNA copies; REVEL 0.854 |
Frequently asked questions
Which genes are linked to Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency?
In CATVariant, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is linked to 1 analyzed protein: SETD5 (Histone-lysine N-methyltransferase SETD5).
How many genetic variants are linked to Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency?
125 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 80 are of uncertain significance or have conflicting reports.
Which uncertain variants in Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example SETD5 G344S. 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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