Activity
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13 actions
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| Rare genetic inflammatory skin disorders v4.25 | OSMR | Arina Puzriakova Phenotypes for gene: OSMR were changed from AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250; atopic eczema, MONDO:0004980 to Amyloidosis, primary localized cutaneous, 1, OMIM:105250; atopic eczema, MONDO:0004980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.24 | OSMR |
Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are 8 unrelated individuals reported in literature with biallelic OSMR variants and syndromic atopic dermatitis with peripheral eosinophilia and markedly elevated serum IgE. Hence, this gene can be promoted to Green at the next GMS update.; to: Comment on mode of inheritance: There are 8 unrelated individuals reported in literature with biallelic OSMR variants and syndromic atopic dermatitis with peripheral eosinophilia and markedly elevated serum IgE. Hence, the mode of inheritance should be updated from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (associated with dominant Amyloidosis) to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. |
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| Rare genetic inflammatory skin disorders v4.24 | OSMR | Ida Ertmanska commented on gene: OSMR: Comment on mode of inheritance: There are 8 unrelated individuals reported in literature with biallelic OSMR variants and syndromic atopic dermatitis with peripheral eosinophilia and markedly elevated serum IgE. Hence, this gene can be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.24 | OSMR | Ida Ertmanska Phenotypes for gene: OSMR were changed from AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250 to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250; atopic eczema, MONDO:0004980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.23 | OSMR | Ida Ertmanska Publications for gene: OSMR were set to 18179886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.22 | OSMR | Ida Ertmanska Tag Q3_26_MOI tag was added to gene: OSMR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.22 | OSMR | Ida Ertmanska reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: None; Publications: 41783139, 42221229; Phenotypes: atopic eczema, MONDO:0004980; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.27 | OSMR | Ivone Leong Phenotypes for gene: OSMR were changed from Amyloidosis cutis; PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | OSMR |
Catherine Snow Added phenotypes PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 for gene: OSMR Publications for gene OSMR were changed from to 18179886 |
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| Rare genetic inflammatory skin disorders v0.21 | OSMR | Tom Cullup reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: 18179886; Phenotypes: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, PLCA1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.5 | OSMR | Rebecca Foulger Source London North GLH was added to OSMR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.4 | OSMR | Rebecca Foulger reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.3 | OSMR |
Rebecca Foulger gene: OSMR was added gene: OSMR was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OSMR were set to Amyloidosis cutis |
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