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| White matter disorders and cerebral calcification - narrow panel v7.19 | ALPK1 |
Dmitrijs Rots gene: ALPK1 was added gene: ALPK1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALPK1 were set to PMID: 35868845 Phenotypes for gene: ALPK1 were set to ROSAH Penetrance for gene: ALPK1 were set to Complete Mode of pathogenicity for gene: ALPK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: ALPK1 was set to GREEN Added comment: 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 |
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