Hereditary ataxia with onset in adulthood
Gene: NAA60
NAA60 should be green on the Hereditary ataxia with onset in adulthood as four of the families described in table 1 (PMID: 38480682), also displayed either cerebellar syndrome (which often includes ataxia) or cerebellar ataxia (personal communication from Helen Brittain (Genomics England Clinical Fellow).Created: 15 Apr 2024, 12:23 p.m. | Last Modified: 15 Apr 2024, 12:23 p.m.
Panel Version: 4.31
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 11 Apr 2024, 3:46 p.m. | Last Modified: 11 Apr 2024, 3:46 p.m.
Panel Version: 3.34
To date, NAA60 variants are not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 38480682 reports six NAA60 variants in six unrelated cases with an autosomal recessive primary familial brain calcification (PFBC). Table 2 in PMID: 38480682 outlines the extent of the calcification seen in the patient's CT scans. Functional studies show that the phosphate importer SLC20A2 is a substrate of NAA60 in vitro, and loss of function by the NAA60 variants results in a reduced level of surface SLC20A2, thereby, reducing the extracellular phosphate uptake. The authors conclude, that this study provides a possible biochemical explanation of the involvement of NAA60 variants in PFBC development (PMID: 38480682).
Sources: LiteratureCreated: 11 Apr 2024, 3:44 p.m. | Last Modified: 15 Apr 2024, 9:50 a.m.
Panel Version: 3.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NAA60 associated autosomal recessive primary familial brain calcifications
Publications
Tag Q2_24_MOI tag was added to gene: NAA60.
gene: NAA60 was added gene: NAA60 was added to Hereditary ataxia with onset in adulthood. Sources: Literature,Expert Review Amber Q2_24_promote_green, Q2_24_NHS_review tags were added to gene: NAA60. Mode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAA60 were set to 38480682 Phenotypes for gene: NAA60 were set to NAA60 associated autosomal recessive primary familial brain calcifications