BSCL2 Chromosome 11
BSCL2 lipid droplet biogenesis associated, seipin
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What This Gene Does
This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024]
Associated Conditions (21)
Charcot-Marie-Tooth disease type 2
Congenital generalized lipodystrophy type 2
Neuronopathy
distal hereditary motor
type 5A
Inborn genetic diseases
Hereditary spastic paraplegia
Hereditary spastic paraplegia 17
type 5C
Severe neurodegenerative syndrome with lipodystrophy
Monogenic diabetes
Berardinelli-Seip congenital lipodystrophy
BSCL2-related disorder
Lipodystrophy
Intellectual disability
Developmental and epileptic encephalopathy
Abnormal central motor function
Charcot-Marie-Tooth disease
Breast carcinoma
Reduced delayed hypersensitivity
+1 more conditions
Key Variants
RS1057521013
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS10776
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor
Health Risk
RS117597269
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor
Health Risk
RS117862461
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor
Health Risk
RS137930278
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Hereditary spastic paraplegia 17
Health Risk
RS138515091
Conflicting classifications of pathogenicity
Severe neurodegenerative syndrome with lipodystrophy, Charcot-Marie-Tooth disease type 2, Severe neurodegenerative syndrome with lipodystrophy
Health Risk
RS140208002
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor
Health Risk
RS140676897
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Monogenic diabetes, Severe neurodegenerative syndrome with lipodystrophy
Health Risk
RS140896339
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
Health Risk
RS1434874435
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Berardinelli-Seip congenital lipodystrophy, Charcot-Marie-Tooth disease type 2
Health Risk
RS144245125
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Hereditary spastic paraplegia, Inborn genetic diseases
Health Risk
RS145649423
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786205068 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy, Congenital generalized lipodystrophy type 2 |
| RS786205070 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy, Congenital generalized lipodystrophy type 2 |
| RS786205073 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy, Congenital generalized lipodystrophy type 2 |
| RS998498207 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor |
| RS1011200048 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2, Hereditary spastic paraplegia 17 |
| RS1565142553 | Health Risk | Likely pathogenic | Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2 |
| RS1945285043 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2539144290 | Health Risk | Likely pathogenic | Severe neurodegenerative syndrome with lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy |
| RS2539155047 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2539174013 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS747297291 | Health Risk | Likely pathogenic | Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2 |
| RS749890533 | Health Risk | Likely pathogenic | Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2, Neuronopathy |
| RS777430457 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS879254029 | Health Risk | Likely pathogenic | Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2 |
| RS1013079991 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy, Congenital generalized lipodystrophy type 2 |
| RS1244155207 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS137852970 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Inborn genetic diseases, Neuronopathy |
| RS137852971 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2, Berardinelli-Seip congenital lipodystrophy |
| RS137852973 | Health Risk | Pathogenic | Hereditary spastic paraplegia 17, Charcot-Marie-Tooth disease type 2, Neuronopathy |
| RS137852974 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy, Congenital generalized lipodystrophy type 2 |
| RS137852975 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2, Berardinelli-Seip congenital lipodystrophy |
| RS1402657239 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1554982914 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1554983076 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2 |
| RS1565144681 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2 |
| RS1565152616 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2 |
| RS190405606 | Health Risk | Pathogenic | Breast carcinoma, Reduced delayed hypersensitivity, Symphalangism affecting the proximal phalanx of the 4th finger |
| RS1945289474 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2134689565 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2134690008 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2539145269 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2539154728 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2539181714 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS557044760 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2 |
| RS587777606 | Health Risk | Pathogenic | Severe neurodegenerative syndrome with lipodystrophy, Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2 |
| RS587777608 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Severe neurodegenerative syndrome with lipodystrophy, Berardinelli-Seip congenital lipodystrophy |
| RS758843908 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2, Berardinelli-Seip congenital lipodystrophy |
| RS766061024 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy, Hereditary spastic paraplegia 17 |
| RS786205069 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy, Congenital generalized lipodystrophy type 2 |
| RS786205071 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor |
| RS1057524896 | Health Risk | Pathogenic/Likely pathogenic | Monogenic diabetes, Severe neurodegenerative syndrome with lipodystrophy, Congenital generalized lipodystrophy type 2 |
| RS1064797076 | Health Risk | Pathogenic/Likely pathogenic | Congenital generalized lipodystrophy type 2, Lipodystrophy, Berardinelli-Seip congenital lipodystrophy |
| RS779154593 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2, Severe neurodegenerative syndrome with lipodystrophy |