Genomics England
GMS Panels
Panels
Genes and Entities

DHX30

DExH-box helicase 30
OMIM: 616423
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with severe motor impairment and absent language 617804
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, developmental delay intellectual disability, mild cerebral volume loss, hypotonia, seizures, short stature, failure to thrive, and generalized hirsutism