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| Cholestasis v1.105 | COG7 | Ivone Leong Tag for-review was removed from gene: COG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.105 | COG7 | Ivone Leong commented on gene: COG7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.104 | COG7 |
Ivone Leong Source Expert Review Green was added to COG7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v1.60 | COG7 | Ivone Leong Classified gene: COG7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.60 | COG7 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.4) with the following review: "Sarah Leigh (Genomics England Curator) Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in 3 unrelated families, together with supportive in vitro studies (PMID 19577670)." This gene has been given an Amber rating and will be made Green at the next review. |
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| Cholestasis v1.60 | COG7 | Ivone Leong Gene: cog7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.59 | COG7 | Ivone Leong Tag for-review tag was added to gene: COG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.56 | COG7 | Ivone Leong Phenotypes for gene: COG7 were changed from Congenital disorder of glycosylation, type IIe , MIM#608779 to Congenital disorder of glycosylation, type IIe , 608779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | COG7 |
Zornitza Stark gene: COG7 was added gene: COG7 was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG7 were set to 19577670; 17395513; 15107842 Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe , MIM#608779 Review for gene: COG7 was set to GREEN Added comment: Hepatomegaly, abnormal LFTs, cholestasis reported in several affected individuals with this CDG, often as part of the initial presentation. Sources: Expert list |
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