| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.45 | ECM1 | Zornitza Stark Marked gene: ECM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.45 | ECM1 | Zornitza Stark Gene: ecm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.44 | ECM1 | Zornitza Stark Classified gene: ECM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.44 | ECM1 | Zornitza Stark Gene: ecm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.43 | ECM1 | Yetong Chen edited their review of gene: ECM1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.43 | ECM1 |
Yetong Chen gene: ECM1 was added gene: ECM1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECM1 were set to 27398129; 26336196; 12603844 Phenotypes for gene: ECM1 were set to Urbach-Wiethe disease, MIM# 247100 Review for gene: ECM1 was set to AMBER Added comment: Although reported cases with ECM1 status are limited, Urbach-Wiethe disease is commonly associated with brain calcification. PMID 27398129 reports a patient with calcifications in both the hippocampi and amygdala. The patient was confirmed to have Urbach-Wiethe syndrome by skin biopsy. However, the paper does not explicitly mention whether genetic testing of the ECM1 gene or genomics testing was done for the patient. PMID 26336196 reports 2 siblings diagnosed to have Urbach-Wiethe syndrome who developed bilateral basal ganglia calcification. The method of diagnosis and patients' ECM1 status is not mentioned. PMID 12603844 reports unrelated 3 patients with ECM1 variants who developed temporal lobe calcification. Sources: Expert list |
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