Blepharophimosis-impaired intellectual development syndrome: genes and variants
Blepharophimosis-impaired intellectual development syndrome is linked to 1 analyzed protein (SMARCA2). 8 DNA variants are known to cause it; 11 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Blepharophimosis-impaired intellectual development syndrome
SMARCA2: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2
It provides ATP-dependent nucleosome remodeling activity to selected SWI/SNF complexes and helps control transcriptional access to chromatin. Heterozygous pathogenic variants cause Nicolaides-Baraitser syndrome or, through distinct mechanisms, blepharophimosis-intellectual-disability syndrome.
8 disease-causing and 11 uncertain variants in SMARCA2 are linked to Blepharophimosis-impaired intellectual development syndrome.
Known disease-causing variants in Blepharophimosis-impaired intellectual development syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SMARCA2 R937H | 937 | Disease-causing (★★) | |
| SMARCA2 R525C | 525 | Disease-causing (★★) | |
| SMARCA2 D534G | 534 | Disease-causing (★★) | |
| SMARCA2 R1105H | 1105 | Helicase C-terminal | Disease-causing (★★) |
| SMARCA2 R937C | 937 | Disease-causing (★) | |
| SMARCA2 Q957R | 957 | Disease-causing (★) | |
| SMARCA2 P625L | 625 | Disease-causing (★) | |
| SMARCA2 R937L | 937 | Disease-causing |
Same protein, different disease
- Nicolaides-Baraitser syndrome is also caused by SMARCA2 variants; they fall mostly in different places as the Blepharophimosis-impaired intellectual development syndrome variants (50 disease-causing).
- SMARCA2-related BAFopathy is also caused by SMARCA2 variants; they fall mostly in different places as the Blepharophimosis-impaired intellectual development syndrome variants (7 disease-causing).
Diseases related to Blepharophimosis-impaired intellectual development syndrome
- Nicolaides-Baraitser syndrome, also linked to SMARCA2
- SMARCA2-related BAFopathy, also linked to SMARCA2
- Pituitary stalk interruption syndrome, also linked to SMARCA2
Frequently asked questions
Which genes are linked to Blepharophimosis-impaired intellectual development syndrome?
In CATVariant, Blepharophimosis-impaired intellectual development syndrome is linked to 1 analyzed protein: SMARCA2 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2).
How many genetic variants are linked to Blepharophimosis-impaired intellectual development syndrome?
28 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.
Which uncertain variants in Blepharophimosis-impaired intellectual development syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
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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