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
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
194190, Wolf-Hirschhorn syndrome
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
194190, Wolf-Hirschhorn syndrome
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
194190, Wolf-Hirschhorn syndrome
Green
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
194190, Wolf-Hirschhorn syndrome