ISCA-37478-Loss

15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, Developmental delay, muscle weakness, 176270, Angelman syndrome, Prader-Willi syndrome, 105830, Mental retardation
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, 176270, Mental retardation, Angelman syndrome, Prader-Willi syndrome, Developmental delay, muscle weakness, 105830
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830
R-numbers: R149
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830