Genomics England
GMS Panels
Panels
Genes and Entities

GPT2

glutamic--pyruvic transaminase 2
OMIM: 138210
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281
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
Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281