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| Pigmentary skin disorders v1.42 | DDX3X |
Arina Puzriakova Tag Q4_21_rating was removed from gene: DDX3X. Tag Q4_21_NHS_review was removed from gene: DDX3X. |
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| Pigmentary skin disorders v1.42 | DDX3X | Arina Puzriakova commented on gene: DDX3X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.41 | DDX3X |
Arina Puzriakova Source Expert Review Green was added to DDX3X. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Tag Q4_21_rating tag was added to gene: DDX3X. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Tag Q4_21_NHS_review tag was added to gene: DDX3X. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Classified gene: DDX3X as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. It should be noted that not all patient develops skin pigmentation anomalies; however, there are >3 unrelated cases. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Gene: ddx3x has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.21 | DDX3X | Ivone Leong Phenotypes for gene: DDX3X were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, OMIM:300958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.16 | DDX3X |
Tom Cullup gene: DDX3X was added gene: DDX3X was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: DDX3X 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: DDX3X were set to 30349862 Phenotypes for gene: DDX3X were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE Penetrance for gene: DDX3X were set to unknown Review for gene: DDX3X was set to GREEN Added comment: Sources: Expert list |
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