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Condition report · Neurological

Angelman Syndrome

A neurogenetic disorder causing severe developmental delay, minimal speech, problems with movement and balance, seizures and a characteristically happy demeanour. It results from loss of the maternally inherited UBE3A gene on chromosome 15.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

A disorder caused by loss of maternal UBE3A function through a 15q11-q13 deletion, paternal uniparental disomy, an imprinting defect or a UBE3A variant.

What a diagnosis changes

Seizure, sleep and developmental support; families with a maternally inherited UBE3A variant have a 50% recurrence risk, so genetic counselling is important.

Genes analysed

Also known as

Angelman syndrome (Type 1); Angelman syndrome (Type 2); Angelman’s syndrome; AS; happy puppet syndrome (formerly)

Includes 4 related subtypes ↓
  • Angelman syndrome due to a point mutation
  • Angelman syndrome due to imprinting defect in 15q11-q13
  • Angelman syndrome due to maternal 15q11q13 deletion
  • Angelman syndrome due to paternal uniparental disomy of chromosome 15
MONDO:0007113OMIM 105830Orphanet 72MedGen 58144

Limitations

  • Angelman syndrome is often caused by mechanisms that sequencing alone cannot detect. The 15q11-q13 deletion is a copy number variant not detected by small-variant analysis, and imprinting defects and paternal uniparental disomy need methylation testing or parental samples. Only UBE3A sequence variants are assessed here, so a negative result does not rule out the condition.

Other neurological conditions

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