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| Rare genetic inflammatory skin disorders v1.53 | ECM1 |
Arina Puzriakova Tag Q4_21_rating was removed from gene: ECM1. Tag Q4_21_NHS_review was removed from gene: ECM1. |
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| Rare genetic inflammatory skin disorders v1.53 | ECM1 | Arina Puzriakova commented on gene: ECM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.52 | ECM1 |
Arina Puzriakova Source Expert Review Green was added to ECM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rare genetic inflammatory skin disorders v1.45 | ECM1 | Eleanor Williams Classified gene: ECM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.45 | ECM1 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.45 | ECM1 | Eleanor Williams Gene: ecm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.44 | ECM1 | Eleanor Williams Phenotypes for gene: ECM1 were changed from Urbach-Wiethe disease to Urbach-Wiethe disease, OMIM:247100; lipoid proteinosis, MONDO:0009530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.43 | ECM1 | Eleanor Williams Publications for gene: ECM1 were set to 11929856 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.42 | ECM1 |
Eleanor Williams Tag Q4_21_rating tag was added to gene: ECM1. Tag Q4_21_NHS_review tag was added to gene: ECM1. |
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| Rare genetic inflammatory skin disorders v1.42 | ECM1 | Eleanor Williams reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11929856, 28720532, 33159951; Phenotypes: Urbach-Wiethe disease, OMIM:247100, lipoid proteinosis, MONDO:0009530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.40 | ECM1 |
Tom Cullup 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 Added comment: Sources: Other |
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