Facial papules
Gene: ECM1EnsemblGeneIds (GRCh38): ENSG00000143369
EnsemblGeneIds (GRCh37): ENSG00000143369
OMIM: 602201, Gene2Phenotype
ECM1 is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
One of the predominant features of lipoid proteinosis is multiple beaded papules along the eyelid margins and inner canthus known as moniliform blepharosis.
Sources: Expert listCreated: 17 Jun 2023, 6:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
lipoid proteinosis MONDO:0009530
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- lipoid proteinosis MONDO:0009530
- OMIM
- 602201
- Clinvar variants
- Variants in ECM1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ecm1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ecm1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ECM1 was added gene: ECM1 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECM1 were set to 26803878 Phenotypes for gene: ECM1 were set to lipoid proteinosis MONDO:0009530 Review for gene: ECM1 was set to GREEN gene: ECM1 was marked as current diagnostic