Genomics England
GMS Panels
Panels
Genes and Entities

DMXL2

Dmx like 2
OMIM: 612186
PanelMode of inheritanceDetails
3 panels
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 6.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 81, MIM 618663, Ohtahara syndrome
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sensorineural Hearing Loss, ORPHA90636, Epileptic encephalopathy, early infantile, 81, 618663, ?Polyendocrine-polyneuropathy syndrome, 616113
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.51
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Deafness, autosomal dominant 71, OMIM:617605