Activity
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12 actions
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| Segmental overgrowth disorders - Deep sequencing v4.3 | PADI6 |
Eleanor Williams Tag Q2_25_ demote_red was removed from gene: PADI6. Tag Q2_25_expert_review was removed from gene: PADI6. |
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| Segmental overgrowth disorders - Deep sequencing v4.3 | PADI6 | Achchuthan Shanmugasundram reviewed gene: PADI6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v4.2 | PADI6 |
Eleanor Williams Source Expert Review Red was added to PADI6. Source NHS GMS was added to PADI6. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Segmental overgrowth disorders - Deep sequencing v3.19 | PADI6 |
Sarah Leigh Tag Q2_25_ demote_red tag was added to gene: PADI6. Tag Q2_25_expert_review tag was added to gene: PADI6. |
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| Segmental overgrowth disorders - Deep sequencing v3.19 | PADI6 | Sarah Leigh edited their review of gene: PADI6: Added comment: Based on review given by Tom Cullup (Great Ormond Street Hospital), PADI6 is not relevant to this panel (Segmental overgrowth disorders - Deep sequencing) and should be demoted to Red. PADI6 variants will be identified using the Multi locus imprinting disorders (R417.2) panel, where this gene is Green.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v3.19 | PADI6 | Tom Cullup reviewed gene: PADI6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.16 | PADI6 | Catherine Snow Tag for-review was removed from gene: PADI6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.16 | PADI6 | Catherine Snow commented on gene: PADI6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.15 | PADI6 |
Catherine Snow Source Expert Review Green was added to PADI6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Segmental overgrowth disorders - Deep sequencing v2.8 | PADI6 | Sarah Leigh Tag for-review tag was added to gene: PADI6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.8 | PADI6 | Sarah Leigh edited their review of gene: PADI6: Added comment: PMID: 32928291 reports three variants associated with Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance in three cases. Five variants have also been associated with Preimplantation embryonic lethality 2, where they have been biallelic in the women affected (pmid 27545678). There is enough evidence for this gene to be reviewed at the next major review.; Changed publications: 32928291, 33221824, 27545678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.8 | PADI6 |
Sarah Leigh gene: PADI6 was added gene: PADI6 was added to Segmental overgrowth disorders. Sources: Literature Mode of inheritance for gene: PADI6 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: PADI6 were set to 32928291; 33221824 Phenotypes for gene: PADI6 were set to Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome Review for gene: PADI6 was set to AMBER Added comment: Sources: Literature |
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