White matter disorders and cerebral calcification - narrow panel

Gene: NAA60

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 2:49 p.m. | Last Modified: 26 Sep 2024, 2:49 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

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: Literature

Created: 11 Apr 2024, 3:44 p.m. | Last Modified: 15 Apr 2024, 9:50 a.m.

Panel Version: 3.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NAA60 associated autosomal recessive primary familial brain calcifications

Publications

• 38480682