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| Brain Calcification v2.9 | XPR1 | Zornitza Stark Mode of inheritance for gene: XPR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v2.8 | XPR1 | Zornitza Stark edited their review of gene: XPR1: Added comment: PMID 41834789 reports 13 affected individuals from 4 consanguineous families with a homozygous loss‑of‑function missense variant (c.1811G>A; p.Arg604Gln) causing neonatal‑onset severe multisystem disease (brain calcifications, developmental delay, hypophosphataemia, cardiopulmonary involvement). Likely founder variant. Remains to be seen whether the biallelic disease relates specifically to this variant. Amber for this association -- caution with other variants warranted.; Changed publications: 25938945, 41834789; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.89 | XPR1 | Zornitza Stark Publications for gene: XPR1 were set to 25938945 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.83 | XPR1 | Yetong Chen reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27230854, 29955172, 33433330; Phenotypes: Basal ganglia calcification, idiopathic, 6, MIM# 616413; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.44 | XPR1 | Zornitza Stark Marked gene: XPR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.44 | XPR1 | Zornitza Stark Gene: xpr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.44 | XPR1 | Zornitza Stark Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, MIM# 616413 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.43 | XPR1 | Zornitza Stark Publications for gene: XPR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.42 | XPR1 | Zornitza Stark Mode of inheritance for gene: XPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.41 | XPR1 | Zornitza Stark reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938945; Phenotypes: Basal ganglia calcification, idiopathic, 6, MIM# 616413; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.0 | XPR1 |
Zornitza Stark gene: XPR1 was added gene: XPR1 was added to Brain calcification_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: XPR1 was set to Unknown |
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