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| Brain Calcification v1.80 | MOCS1 | Zornitza Stark Marked gene: MOCS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.80 | MOCS1 | Zornitza Stark Gene: mocs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.80 | MOCS1 | Zornitza Stark Classified gene: MOCS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.80 | MOCS1 | Zornitza Stark Gene: mocs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.79 | MOCS1 | Zornitza Stark reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | PANK2 |
Yetong Chen gene: PANK2 was added gene: PANK2 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PANK2 were set to 23968566; 29642163; 28024710 Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, MIM# 234200 Review for gene: PANK2 was set to RED Added comment: The 3 cases were reported within 5 years (2013-2018); however, no more new cases are reported after 2018. Hence, limited evidence supports the causal role of the MOCS1 gene in brain calcification. PMID 23968566 reports a patient with heterozygous PANK2 variants (p.G521R and p.T528M) who exhibited basal ganglia calcifications. PMID 29642163 reports a patient with heterozygous PANK2 variants (p.D217G and p.D447E) who developed basal ganglia calcifications. PMID 28024710 reports a patient with 2 homozygous PANK2 variants (p.Asp403Val) who developed bilateral calcification of globus pallidus. Sources: Expert list |
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| Brain Calcification v1.51 | MOCS1 |
Yetong Chen gene: MOCS1 was added gene: MOCS1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS1 were set to 27289259 Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, MIM# 252150 Review for gene: MOCS1 was set to RED Added comment: Limited evidence supports the causal role of the MOCS1 gene in brain calcification. PMID reports 2 patients (patients 1 and 5) with different homozygous MOCS1 variants (c.253C > T (p.Q85*) and c.722_722delT (p.L241Rfs*6)) who developed brain calcification. Sources: Expert list |
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