Genomics England
GMS Panels
Panels
Genes and Entities

ACTL6B

actin like 6B
OMIM: 612458
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468, INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 76, OMIM:618468
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 76, OMIM:618468, Intellectual developmental disorder with severe speech and ambulation defects, OMIM:618470