Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37478-Gain

15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems, hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636, chromosome 15q11-q13 duplication syndrome
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636, chromosome 15q11-q13 duplication syndrome, autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems, hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636, chromosome 15q11-q13 duplication syndrome
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636, chromosome 15q11-q13 duplication syndrome, autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems