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  3. AGTPBP1
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Hereditary Neuropathy - complex

Gene: AGTPBP1

Green List (high evidence)
AGTPBP1 (ATP/GTP binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000135049
EnsemblGeneIds (GRCh37): ENSG00000135049
OMIM: 606830, Gene2Phenotype
AGTPBP1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Thirteen individuals with bi-allelic variants in this gene, neuropathy is a major feature.
Sources: NHS GMS
Created: 30 Mar 2020, 7:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276

Publications

Created: 30 Mar 2020, 7:29 a.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy
  • Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
OMIM
606830
Clinvar variants
Variants in AGTPBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agtpbp1 has been classified as Green List (High Evidence).

30 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agtpbp1 has been classified as Green List (High Evidence).

30 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGTPBP1 was added gene: AGTPBP1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTPBP1 were set to 30420557 Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Review for gene: AGTPBP1 was set to GREEN