Genomics England
GMS Panels
Panels
Genes and Entities

SUPV3L1

Suv3 like RNA helicase
OMIM: 605122
PanelMode of inheritanceDetails
3 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome