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| Cholestasis v1.105 | DGUOK | Ivone Leong Tag for-review was removed from gene: DGUOK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.105 | DGUOK | Ivone Leong commented on gene: DGUOK: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.104 | DGUOK |
Ivone Leong Source Expert Review Green was added to DGUOK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v1.50 | DGUOK | Ivone Leong Classified gene: DGUOK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.50 | DGUOK |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and will be promoted to Green status at the next review. This gene is also Green on Mitochondrial liver disease (v1.3), Mitochondrial DNA maintenance disorder (1.3), Inborn errors of metabolism (v2.24) and Possible mitochondrial disorder - nuclear genes (v1.17), Mitochondrial disorders (v2.8). It is also a Green gene on the Neonatal cholestasis panel (v1.4). |
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| Cholestasis v1.50 | DGUOK | Ivone Leong Gene: dguok has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.49 | DGUOK | Ivone Leong Tag for-review tag was added to gene: DGUOK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.49 | DGUOK | Ivone Leong Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | DGUOK |
Zornitza Stark gene: DGUOK was added gene: DGUOK was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Review for gene: DGUOK was set to GREEN gene: DGUOK was marked as current diagnostic Added comment: Progressive liver disease including cholestasis is a prominent part of the presenting phenotype. Sources: Expert list |
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