Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37404-Loss

15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
PanelMode of inheritanceDetails
6 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
microcephaly, Developmental delay, muscle weakness, 176270, 105831, Angelman syndrome, Prader-Willi syndrome, Mental retardation
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
microcephaly, 105832, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
105831, Angelman syndrome, Developmental delay, muscle weakness, Mental retardation, 176270, microcephaly, Prader-Willi 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
microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830
Green
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, 105833, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome
Green
in Severe early-onset obesity
R-numbers: R149
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105835