Activity
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16 actions
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| Pigmentary skin disorders v4.18 | MLPH | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Veronica Kinsler, there is sufficient evidence available (over 10 unrelated cases and functional evidence) for the association of this gene with Griscelli syndrome, type 3 (MIM #609227). Hence, this gene can be promoted to green rating on this panel.; to: Comment on list classification: As reviewed by Veronica Kinsler, there is sufficient evidence available (over 10 unrelated cases and functional evidence) for the association of this gene with Griscelli syndrome, type 3 (MIM #609227). Hence, this gene can be promoted to green rating on this panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.18 | MLPH | Achchuthan Shanmugasundram Classified gene: MLPH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.18 | MLPH | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Veronica Kinsler, there is sufficient evidence available (over 10 unrelated cases and functional evidence) for the association of this gene with Griscelli syndrome, type 3 (MIM #609227). Hence, this gene can be promoted to green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.18 | MLPH | Achchuthan Shanmugasundram Gene: mlph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.17 | MLPH | Achchuthan Shanmugasundram edited their review of gene: MLPH: Changed phenotypes to: Griscelli syndrome, type 3, OMIM:609227, Griscelli syndrome type 3, MONDO:0012220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.17 | MLPH | Achchuthan Shanmugasundram Phenotypes for gene: MLPH were changed from Griscelli syndrome, type 3, OMIM:609227; Griscelli syndrome type 3, Griscelli syndrome type 3, MONDO:0012220 to Griscelli syndrome, type 3, OMIM:609227; Griscelli syndrome type 3, MONDO:0012220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.16 | MLPH | Achchuthan Shanmugasundram Phenotypes for gene: MLPH were changed from Griscelli syndrome, type 3, OMIM:609227; Griscelli syndrome type 3, Griscelli syndrome type 3 to Griscelli syndrome, type 3, OMIM:609227; Griscelli syndrome type 3, Griscelli syndrome type 3, MONDO:0012220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.15 | MLPH | Achchuthan Shanmugasundram edited their review of gene: MLPH: Changed phenotypes to: Griscelli syndrome, type 3, OMIM:609227, Griscelli syndrome type 3, Griscelli syndrome type 3, MONDO:0012220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.15 | MLPH | Achchuthan Shanmugasundram Phenotypes for gene: MLPH were changed from to Griscelli syndrome, type 3, OMIM:609227; Griscelli syndrome type 3, Griscelli syndrome type 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.14 | MLPH | Achchuthan Shanmugasundram Publications for gene: MLPH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.13 | MLPH |
Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: MLPH. Tag Q2_26_NHS_review tag was added to gene: MLPH. |
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| Pigmentary skin disorders v4.13 | MLPH | Achchuthan Shanmugasundram reviewed gene: MLPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12897212, 21883982, 22711375, 26337734, 30389201, 31721180, 35602484; Phenotypes: Griscelli syndrome, type 3, OMIM:609227, Griscelli syndrome type 3, Griscelli syndrome type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.13 | MLPH | Veronica Kinsler reviewed gene: MLPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12897212, 21883982, 22711375, 26337734; Phenotypes: Griscelli syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.25 | MLPH | Tom Cullup reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 3, 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.13 | MLPH | Catherine Snow reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.11 | MLPH |
Catherine Snow gene: MLPH was added gene: MLPH was added to Pigmentary skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal |
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