Rare genetic inflammatory skin disorders
Gene: ECM1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 2:42 p.m. | Last Modified: 9 Mar 2022, 2:42 p.m.
Panel Version: 1.53
Comment on list classification: Promoting from grey to amber, with a recommendation for a GREEN rating following GMS review. More than 3 cases reported with a plausible disease causing variant in the ECM1 gene and a Lipoid proteinosis phenotype.Created: 25 Nov 2021, 5:39 p.m. | Last Modified: 25 Nov 2021, 5:39 p.m.
Panel Version: 1.45
Associated with Urbach-Wiethe disease #247100 (AR) in OMIM.
PMID: 11929856 - Hamada et al 2002 - looked at 6 different unrelated consanguineous families (from Saudi Arabia, Kuwait, Pakistan, The Netherlands, UK, and a group of South African families with a probable common ancestor) with a clinical diagnosis of Lipoid proteinosis (LP)/Urbach–Wiethe disease. They performed a genome-wide linkage analysis and identified a region and then looked at the expression of candidate genes in fibroblasts from patients compared to controls. ECM1 was found to have lower expression levels. 6 homozygous deletion variants were identified in the patients. In one family they established that the parents were heterozygous for the variant.
PMID: 28720532 - Afifi et al 2017 - studied 12 patients from 10 unrelated consanguineous Egyptian families with a clinical diagnosis of lipoid proteinosis. The patients reported progressive hoarseness of voice and easily damaged skin by minor trauma or friction. Homozygous ECM1 variants were detected in affected members in all families: 1 family had a missense variant, 5 families had splice site variants and 4 families had indels predicted to cause frameshifts. Parents were found to be heterozygous for the variants.
PMID: 33159951 - Zhu et al 2021 - a novel homozygous three-nucleotide duplication (c.506_508dupCTG) in ECM in two siblings affected with LP from a consanguineous Chinese family.Created: 25 Nov 2021, 5:37 p.m. | Last Modified: 25 Nov 2021, 5:37 p.m.
Panel Version: 1.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Urbach-Wiethe disease, OMIM:247100; lipoid proteinosis, MONDO:0009530
Publications
Sources: OtherCreated: 21 Oct 2021, 4:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Urbach-Wiethe disease
Publications
Tag Q4_21_rating was removed from gene: ECM1. Tag Q4_21_NHS_review was removed from gene: ECM1.
Source Expert Review Green was added to ECM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ecm1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ECM1 were changed from Urbach-Wiethe disease to Urbach-Wiethe disease, OMIM:247100; lipoid proteinosis, MONDO:0009530
Publications for gene: ECM1 were set to 11929856
Tag Q4_21_rating tag was added to gene: ECM1. Tag Q4_21_NHS_review tag was added to gene: ECM1.
gene: ECM1 was added gene: ECM1 was added to Rare genetic inflammatory skin disorders. Sources: Other Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECM1 were set to 11929856 Phenotypes for gene: ECM1 were set to Urbach-Wiethe disease Penetrance for gene: ECM1 were set to Complete Review for gene: ECM1 was set to GREEN