White matter disorders and cerebral calcification - narrow panel

Gene: ALPK1

Green List (high evidence)

Associated with ROSAH syndrome, but the phenotype is variable among the individuals. The authors of PMID: 35868845 report:" However, seven of the patients had premature mineralisation/calcification of the globus pallidi, red nuclei and substantia nigra, worsening with age, eventually involving the rest of the basal ganglia (figure 2E). White matter abnormalities have also been reported and patient F10.1 initially received a diagnosis of multiple sclerosis after she presented with loss of colour vision and was reported to have multiple lesions on MRI.".

The gene is currently not in any "brain" panels, while showing obvious brain abnormalities.
Sources: Literature

Created: 23 Mar 2026, 8:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ROSAH

Publications

• PMID: 35868845

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments