Ataxia and cerebellar anomalies - narrow panel

Gene: AGTPBP1

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: 2 May 2024, 11:50 a.m. | Last Modified: 2 May 2024, 11:50 a.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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, 3:08 p.m. | Last Modified: 31 Jul 2023, 3:08 p.m.

Panel Version: 4.26

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. Five unrelated patients had ataxia and all patients had cerebellar atrophy. 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, 3:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 30420557