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Intellectual disability

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 3 May 2024, 11:55 a.m.
Last Modified: 3 May 2024, 11:55 a.m.
Panel version: 6.11

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next major update.
Created: 31 Jul 2023, 2:57 p.m. | Last Modified: 31 Jul 2023, 2:57 p.m.
Panel Version: 5.225
PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype.

This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).
Sources: Literature
Created: 31 Jul 2023, 2:49 p.m. | Last Modified: 31 Jul 2023, 2:56 p.m.
Panel Version: 5.224

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276

Publications

Created: 31 Jul 2023, 2:49 p.m.
Last Modified: 31 Jul 2023, 2:56 p.m.
Panel version: 5.224

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
OMIM
606830
Clinvar variants
Variants in AGTPBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: AGTPBP1.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to AGTPBP1. Source NHS GMS was added to AGTPBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).

31 Jul 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: AGTPBP1.

31 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: AGTPBP1 was added gene: AGTPBP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature 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 Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276 Review for gene: AGTPBP1 was set to GREEN