Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37420-Loss

17q21.3 recurrent region (includes KANSL1) Loss
PanelMode of inheritanceDetails
3 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Koolen-De Vries syndrome, OMIM:610443, Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Koolen-De Vries syndrome, OMIM:610443, Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Green
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Koolen-De Vries syndrome, OMIM:610443, Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature