Activity
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8 actions
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| Ichthyosis and erythrokeratoderma v4.12 | MPDU1 | Ida Ertmanska Phenotypes for gene: MPDU1 were changed from Ichthyosis to Congenital disorder of glycosylation, type If, OMIM:609180; MPDU1-congenital disorder of glycosylation, MONDO:0012211; ichthyosis, MONDO:0019269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.11 | MPDU1 | Ida Ertmanska Publications for gene: MPDU1 were set to 11733556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.10 | MPDU1 |
Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: MPDU1. Tag Q1_26_NHS_review tag was added to gene: MPDU1. |
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| Ichthyosis and erythrokeratoderma v4.10 | MPDU1 | Ida Ertmanska Classified gene: MPDU1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.10 | MPDU1 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic MPDU1 variants and syndromic ichthyosis / erythrokeratoderma. Hence, this gene should be promoted to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.10 | MPDU1 | Ida Ertmanska Gene: mpdu1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.9 | MPDU1 | Ida Ertmanska reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 29721919, 35279850, 36755425, 38831602; Phenotypes: Congenital disorder of glycosylation, type If, OMIM:609180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.9 | MPDU1 |
Veronica Kinsler gene: MPDU1 was added gene: MPDU1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733556 Phenotypes for gene: MPDU1 were set to Ichthyosis Penetrance for gene: MPDU1 were set to unknown Review for gene: MPDU1 was set to GREEN Added comment: Sources: Literature |
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