Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37429-Loss

4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
PanelMode of inheritanceDetails
4 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wolf-Hirschhorn syndrome, OMIM:194190
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
Wolf-Hirschhorn syndrome, OMIM:194190
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
Wolf-Hirschhorn syndrome, OMIM:194190
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
Wolf-Hirschhorn syndrome, OMIM:194190