ISCA-37420-Loss

17q21.3 recurrent region (includes KANSL1) Loss
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.37
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
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 feature
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.6
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