Activity
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12 actions
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| Ichthyosis and erythrokeratoderma v3.30 | POMP |
Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: POMP. Tag Q1_24_expert_review was removed from gene: POMP. |
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| Ichthyosis and erythrokeratoderma v3.30 | POMP | Achchuthan Shanmugasundram reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.29 | POMP |
Achchuthan Shanmugasundram Source Expert Review Green was added to POMP. Source NHS GMS was added to POMP. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Ichthyosis and erythrokeratoderma v3.22 | POMP |
Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: POMP. Tag Q1_24_expert_review tag was added to gene: POMP. |
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| Ichthyosis and erythrokeratoderma v3.22 | POMP | Arina Puzriakova Classified gene: POMP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.22 | POMP |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support the gene-disease association but based on previous reviews, POMP is currently classified as Red on this panel due the single 1bp deletion identified in all cases to date residing in the 5'UTR of the POMP gene. The gene rating is conflicting on the R166 Palmoplantar keratodermas, where POMP is rated Green for the same phenotype. This has been tagged for NHSE expert review, and therefore also tagging the association on this panel so that the two panels can be considered together and the overall classification be aligned. |
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| Ichthyosis and erythrokeratoderma v3.22 | POMP | Arina Puzriakova Gene: pomp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.21 | POMP | Arina Puzriakova Publications for gene: POMP were set to 27503413; 20226437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.20 | POMP | Arina Puzriakova Phenotypes for gene: POMP were changed from Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.19 | POMP | Arina Puzriakova Tag non-coding-known-pathogenic tag was added to gene: POMP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.4 | POMP | Ellen McDonagh Tag promoter tag was added to gene: POMP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | POMP |
Ellen McDonagh gene: POMP was added gene: POMP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 27503413; 20226437 Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 |
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