Activity
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10 actions
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| Cholestasis v3.18 | SCYL1 | Eleanor Williams Classified gene: SCYL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.18 | SCYL1 | Eleanor Williams Gene: scyl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.17 | SCYL1 | Eleanor Williams Tag Q1_26_NHS_review tag was added to gene: SCYL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.16 | SCYL1 | Ida Ertmanska commented on gene: SCYL1: Comment on list classification: As reviewed by Karen Stals, biallelic mutations in SCYL1 were reported in at least 7 pedigrees where affected individuals presented with acute liver failure with onset in infancy / early childhood. Based on available evidence, this gene should be promoted to Green for Cholestasis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.16 | SCYL1 | Ida Ertmanska Phenotypes for gene: SCYL1 were changed from Liver failure; cholestasis; ataxia; peripheral neuropathy; cerebellar atrophy to cholestasis, MONDO:0001751; acute liver failure, MONDO:0019542; Spinocerebellar ataxia, autosomal recessive 21, OMIM:616719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.15 | SCYL1 | Ida Ertmanska Publications for gene: SCYL1 were set to PMID: 30842961; PMID: 33442927; PMID: 30842961; PMID: 29419818 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.14 | SCYL1 | Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: SCYL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.14 | SCYL1 | Ida Ertmanska reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29419818, 30842961, 33442927; Phenotypes: cholestasis, MONDO:0001751, acute liver failure, MONDO:0019542, Spinocerebellar ataxia, autosomal recessive 21, OMIM:616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.14 | SCYL1 |
Karen Stals changed review comment from: Multiple patients reported with biallelic variants in SCYL1, early presentation of liver failure and cholestasis in infancy(episodes may resolve), with later development of a neurological phenotype. Sources: Literature; to: Multiple patients reported with biallelic variants in SCYL1, early presentation of liver failure and cholestasis in infancy (episodes may resolve), with later development of a neurological phenotype. Sources: Literature |
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| Cholestasis v3.14 | SCYL1 |
Karen Stals gene: SCYL1 was added gene: SCYL1 was added to Cholestasis. Sources: Literature Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL1 were set to PMID: 30842961; PMID: 33442927; PMID: 30842961; PMID: 29419818 Phenotypes for gene: SCYL1 were set to Liver failure; cholestasis; ataxia; peripheral neuropathy; cerebellar atrophy Penetrance for gene: SCYL1 were set to Complete Review for gene: SCYL1 was set to GREEN gene: SCYL1 was marked as current diagnostic Added comment: Multiple patients reported with biallelic variants in SCYL1, early presentation of liver failure and cholestasis in infancy(episodes may resolve), with later development of a neurological phenotype. Sources: Literature |
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