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| Pigmentary skin disorders v1.43 | PHF6 |
Arina Puzriakova Tag Q4_21_rating was removed from gene: PHF6. Tag Q4_21_NHS_review was removed from gene: PHF6. |
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| Pigmentary skin disorders v1.42 | PHF6 | Arina Puzriakova commented on gene: PHF6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.41 | PHF6 |
Arina Puzriakova Source Expert Review Green was added to PHF6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Pigmentary skin disorders v1.29 | PHF6 | Ivone Leong Publications for gene: PHF6 were set to 24092917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.28 | PHF6 |
Ivone Leong Tag Q4_21_rating tag was added to gene: PHF6. Tag Q4_21_NHS_review tag was added to gene: PHF6. |
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| Pigmentary skin disorders v1.28 | PHF6 | Ivone Leong Classified gene: PHF6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.28 | PHF6 | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.28 | PHF6 | Ivone Leong Gene: phf6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.27 | PHF6 | Ivone Leong Phenotypes for gene: PHF6 were changed from BORJESON-FORSSMAN-LEHMANN SYNDROME; Fine and whorled Blaschko-linear hypo or hyperpigmentation to Borjeson-Forssman-Lehmann syndrome, OMIM:301900; Fine and whorled Blaschko-linear hypo or hyperpigmentation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.16 | PHF6 |
Tom Cullup gene: PHF6 was added gene: PHF6 was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHF6 were set to 24092917 Phenotypes for gene: PHF6 were set to BORJESON-FORSSMAN-LEHMANN SYNDROME; Fine and whorled Blaschko-linear hypo or hyperpigmentation Penetrance for gene: PHF6 were set to unknown Review for gene: PHF6 was set to GREEN Added comment: Sources: Expert list |
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