Genomics England
GMS Panels
Panels
Genes and Entities

AGTPBP1

ATP/GTP binding protein 1
OMIM: 606830
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276