Genomics England

ISCA-37478-Loss

15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes microcephaly, Developmental delay, muscle weakness, 176270, Angelman syndrome, Prader-Willi syndrome, 105830, 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 Signed-off version 9.56	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes microcephaly, 176270, Mental retardation, Angelman syndrome, Prader-Willi syndrome, Developmental delay, muscle weakness, 105830
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes 105830, Angelman syndrome, Developmental delay, muscle weakness, Mental retardation, 176270, microcephaly, Prader-Willi syndrome
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.16	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830
Green in Severe early-onset obesity R-numbers: R149 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830