BSCL2

Curated reports relevant to this gene

• Charcot-Marie-Tooth Disease

  • Distal Hereditary Motor Neuropathy

    Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

    • ClinGen rates the link definitive
    • 3 GenCC submitters rate it definitive or strong

• Diabetes Mellitus

  • A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

    • 1 GenCC submitter rates it definitive or strong

    ▶Actionability

    Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems

• Hereditary Spastic Paraplegia

  • Hereditary Spastic Paraplegia 17Autosomal dominant

    Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.

    • 2 GenCC submitters rate it definitive or strong
  • Hereditary Spastic Paraplegia (All Types)

    One of 66 genes linked to it

    Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

    • 2 GenCC submitters rate it definitive or strong

• Lipodystrophy

  • Berardinelli-Seip Congenital LipodystrophyAutosomal recessive

    A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.

    • 3 GenCC submitters rate it definitive or strong
  • Congenital Generalized LipodystrophyAutosomal recessive

    An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.

    • 3 GenCC submitters rate it definitive or strong

• Neonatal Diabetes Mellitus

  • Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.

    • 1 GenCC submitter rates it definitive or strong

    ▶Actionability

    Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.

• Spinal Muscular Atrophy

  • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

    • 2 GenCC submitters rate it definitive or strong

    ▶Actionability

    Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

Broader groupings

• Inherited Neurodegenerative Disorders

  • KIF5A-Related Neurodegenerative DisorderAutosomal dominant

    One of 372 genes linked to it

    Caused by changes in one copy of KIF5A, which encodes a motor protein with a cargo-binding tail. Different types of change lead to different conditions: hereditary spastic paraplegia type 10, an axonal form of Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS).

    • ClinGen rates the link definitive
    • 3 GenCC submitters rate it definitive or strong

    ▶Actionability

    Care is symptomatic and depends on the presentation, including physiotherapy, antispasticity medicines and multidisciplinary ALS care. Each child of an affected person has a 1 in 2 chance of inheriting the change; genetic counselling helps families understand this.

• Rare Hereditary Peripheral Neuropathies

  • Hereditary Peripheral Neuropathy

    One of 233 genes linked to it

    Caused by changes in one of many genes needed to keep long nerve fibres healthy. In this report these include IGHMBP2 and PLEKHG5, which are recessive.

    • ClinGen rates the link definitive
    • 3 GenCC submitters rate it definitive or strong

    ▶Actionability

    Physiotherapy, orthoses and occupational therapy help maintain mobility, with surgery for foot deformities when needed. Some forms need breathing monitoring. Genetic counselling guides family testing according to the inheritance pattern of the gene involved.

How BSCL2 is laid out

Exons make up 1.7 kb of the gene's 17.2 kb; 1,389 of those bases code for the protein.

Sequencing BSCL2

ClinVar pathogenic variants (35)

The BSCL2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

• Pathogenic 18
• Pathogenic/likely pathogenic 1
• Likely pathogenic 16

See all 35 with every other BSCL2 variant in ClinVar → (opens in a new tab)

Genes linked to the same conditions

• REEP1receptor accessory protein 1Shares 5 conditions
• SPTAN1spectrin alpha, non-erythrocytic 1Shares 5 conditions
• ATP7AATPase copper transporting alphaShares 4 conditions
• DCTN1dynactin subunit 1Shares 4 conditions
• DNAJB2DnaJ heat shock protein family (Hsp40) member B2Shares 4 conditions
• DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 4 conditions
• EMILIN1elastin microfibril interfacer 1Shares 4 conditions
• FBXO38F-box protein 38Shares 4 conditions
• GARS1glycyl-tRNA synthetase 1Shares 4 conditions
• HSPB8heat shock protein family B (small) member 8Shares 4 conditions
• IGHMBP2immunoglobulin mu DNA binding protein 2Shares 4 conditions
• PLEKHG5pleckstrin homology and RhoGEF domain containing G5Shares 4 conditions

Traits linked to BSCL2

The Human Phenotype Ontology lists these as features of the rare conditions BSCL2 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-18: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.18-8b139e39.

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