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| Brain Calcification v1.56 | SLC46A1 | Zornitza Stark Marked gene: SLC46A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.56 | SLC46A1 | Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.56 | SLC46A1 | Zornitza Stark Classified gene: SLC46A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.56 | SLC46A1 | Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.55 | SLC46A1 |
Yetong Chen gene: SLC46A1 was added gene: SLC46A1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 33146883; 28685492; 24534056; 27938595 Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM# 229050 Review for gene: SLC46A1 was set to GREEN Added comment: PMID 33146883 reports a patient with homozygous SLC46A1 variant (c.620dupG (p.Y208Lfs *25)) who had calcifications in bilateral basal ganglia, thalamus, and subcortical white matter. PMID 28685492 reports a patient (case 2) with homozygous SLC46A1 variant (c.198C>A (p.Cys66*)) who developed basal ganglia calcification. PMID 24534056 reports a patient with compound heterozygous SLC46A1 variants (c.1A>T (MIL) and c.194-195insG (p.Cys66LeufsX99)) who developed calcifications in bilateral frontal, temporal, parietal and occipital lobes, and basal ganglia. PMID 27938595 reports 2 patients harbouring SLC46A1 variants who had progressive bilateral symmetrical calcification. Both patients had compound heterozygous variants. Patient 1 had c. 1238T>C (L413P) and c. 194-195insG (p.Cys66LeufsX99) while patient 2 had c. 1A>T (M1L) and c. 194-195insG (p.Cys66LeufsX99). It should be noted that this publication is written in Chinese and only the abstract is available in English, so details about the calcifications are not available. Sources: Expert list |
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