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Brain Calcification

Gene: ECM1

Green List (high evidence)
ECM1 (extracellular matrix protein 1)
EnsemblGeneIds (GRCh38): ENSG00000143369
EnsemblGeneIds (GRCh37): ENSG00000143369
OMIM: 602201, Gene2Phenotype
ECM1 is in 4 panels

1 review

Yetong Chen (University of Melbourne)

Green List (high evidence)

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
Created: 4 Apr 2023, 12:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urbach-Wiethe disease, MIM# 247100

Publications

Created: 4 Apr 2023, 12:24 a.m.

Panel version: 1.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Urbach-Wiethe disease, MIM# 247100
OMIM
602201
Clinvar variants
Variants in ECM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ecm1 has been classified as Green List (High Evidence).

4 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ecm1 has been classified as Green List (High Evidence).

4 Apr 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Yetong Chen (University of Melbourne)

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