Gaucher disease perinatal lethal: genes and variants
Gaucher disease perinatal lethal is linked to 1 analyzed protein (GBA1). 5 DNA variants are known to cause it; 7 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 Gaucher disease perinatal lethal
GBA1: Lysosomal acid glucosylceramidase
It degrades glucosylceramide within lysosomes and is essential for normal sphingolipid turnover. Biallelic pathogenic variants cause Gaucher disease, while heterozygous pathogenic variants are among the strongest genetic risk factors for Parkinson disease.
5 disease-causing and 7 uncertain variants in GBA1 are linked to Gaucher disease perinatal lethal.
Known disease-causing variants in Gaucher disease perinatal lethal
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GBA1 P221T | 221 | Disease-causing (★★) | |
| GBA1 P430L | 430 | Disease-causing (★★) | |
| GBA1 W351S | 351 | Disease-causing (★★) | |
| GBA1 F290L | 290 | Disease-causing | |
| GBA1 V437F | 437 | Disease-causing |
Same protein, different disease
- Gaucher disease is also caused by GBA1 variants; they fall mostly in different places as the Gaucher disease perinatal lethal variants (132 disease-causing).
- Parkinson disease, late-onset is also caused by GBA1 variants; they fall mostly in different places as the Gaucher disease perinatal lethal variants (8 disease-causing).
- Lewy body dementia is also caused by GBA1 variants; they fall mostly in different places as the Gaucher disease perinatal lethal variants (6 disease-causing).
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome is also caused by GBA1 variants; they fall mostly in different places as the Gaucher disease perinatal lethal variants (3 disease-causing).
Diseases related to Gaucher disease perinatal lethal
- Gaucher disease, also linked to GBA1
- Lewy body dementia, also linked to GBA1
- Parkinson disease, late-onset, also linked to GBA1
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, also linked to GBA1
- Parkinson disease, also linked to GBA1
Frequently asked questions
Which genes are linked to Gaucher disease perinatal lethal?
In CATVariant, Gaucher disease perinatal lethal is linked to 1 analyzed protein: GBA1 (Lysosomal acid glucosylceramidase).
How many genetic variants are linked to Gaucher disease perinatal lethal?
14 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Gaucher disease perinatal lethal 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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