Genomics England
GMS Panels
Panels
Genes and Entities

ARG1

arginase 1
OMIM: 608313
PanelMode of inheritanceDetails
5 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininemia, OMIM:207800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARGININEMIA 207800
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
Argininemia, OMIM:207800
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
Argininemia, OMIM:207800
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 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininaemia (Urea cycle disorders and inherited hyperammonaemias), Argininemia, OMIM:207800