Ataxia and cerebellar anomalies - narrow panel
Gene: AGTPBP1
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: LiteratureCreated: 31 Jul 2023, 3:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
Publications
Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: AGTPBP1.
gene: AGTPBP1 was added gene: AGTPBP1 was added to Ataxia and cerebellar anomalies - narrow panel. 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