Genomics England
GMS Panels
Panels
Genes and Entities

SHQ1

SHQ1, H/ACA ribonucleoprotein assembly factor
OMIM: 613663
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Dystonia 35, childhood-onset, OMIM:619921, dystonia 35, childhood-onset, MONDO:0030958, Neurodevelopmental disorder with dystonia and seizures, OMIM:619922, neurodevelopmental disorder with dystonia and seizures, MONDO:0859258
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 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Dystonia 35, childhood-onset, OMIM:619921, dystonia 35, childhood-onset, MONDO:0030958, Neurodevelopmental disorder with dystonia and seizures, OMIM:619922, neurodevelopmental disorder with dystonia and seizures, MONDO:0859258
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Dystonia 35, childhood-onset, OMIM:619921, dystonia 35, childhood-onset, MONDO:0030958, Neurodevelopmental disorder with dystonia and seizures, OMIM:619922, neurodevelopmental disorder with dystonia and seizures, MONDO:0859258