| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Pigmentary Disorders v0.70 | KIT | Bryony Thompson Marked gene: KIT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.70 | KIT | Bryony Thompson Gene: kit has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.70 | KIT | Bryony Thompson Classified gene: KIT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.70 | KIT | Bryony Thompson Gene: kit has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.69 | KIT |
Bryony Thompson gene: KIT was added gene: KIT was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIT were set to 1717985; 1384325; 9699740 Phenotypes for gene: KIT were set to piebaldism MONDO:0008244 Review for gene: KIT was set to GREEN gene: KIT was marked as current diagnostic Added comment: A disorder of pigmentation characterised by patches of white skin and hair. Loss of function is the mechanism of disease. Sources: Expert list |
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| Hereditary Pigmentary Disorders v0.49 | KITLG | Bryony Thompson Marked gene: KITLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.49 | KITLG | Bryony Thompson Gene: kitlg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.49 | KITLG | Bryony Thompson Classified gene: KITLG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.49 | KITLG | Bryony Thompson Gene: kitlg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.32 | ADAM10 |
Bryony Thompson gene: ADAM10 was added gene: ADAM10 was added to Hereditary Pigmentary Disorders. Sources: Literature Mode of inheritance for gene: ADAM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADAM10 were set to 23666529; 30488468 Phenotypes for gene: ADAM10 were set to reticulate acropigmentation of Kitamura MONDO:0014234 |
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| Hereditary Pigmentary Disorders v0.3 | KITLG |
Bryony Thompson gene: KITLG was added gene: KITLG was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KITLG were set to 19375057; 21368769 Phenotypes for gene: KITLG were set to hyperpigmentation with or without hypopigmentation, familial progressive MONDO:0007771 Mode of pathogenicity for gene: KITLG was set to Other |
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