| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v1.108 | YARS | Sarah Leigh Publications for gene: YARS were set to 30304524; 29232904; 27633801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.105 | YARS |
Ivone Leong Tag watchlist was removed from gene: YARS. Tag for-review was removed from gene: YARS. |
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| Cholestasis v1.105 | YARS | Ivone Leong commented on gene: YARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.104 | YARS |
Ivone Leong Source Expert Review Green was added to YARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v1.103 | YARS |
Alison Bybee changed review comment from: Case report of homozygous biallelic variant inherited from heterozygous parents, child affected with complex clinical conditions culminating in death at 12 months of age. PMID 33490854 reports a case with failure to thrive and cholestatic hepatitis, followed by progressive liver disease, exocrine pancreatic insufficiency, acute renal failure, recurrent infections, ichthyosis, hematologic concerns, hypotonia, and global developmental delay, amongst other features. Autopsy confirmed significant end-stage fibrotic liver disease with cholestasis. Sources: Literature; to: PMID 33490854 (2021) - Case report of homozygous biallelic variant inherited from heterozygous parents, child affected with complex clinical conditions culminating in death at 12 months of age. PMID 33490854 reports a case with failure to thrive and cholestatic hepatitis, followed by progressive liver disease, exocrine pancreatic insufficiency, acute renal failure, recurrent infections, ichthyosis, hematologic concerns, hypotonia, and global developmental delay, amongst other features. Autopsy confirmed significant end-stage fibrotic liver disease with cholestasis. Sources: Literature |
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| Cholestasis v1.103 | YARS | Alison Bybee reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 33490854; Phenotypes: failure to thrive (FTT), cholestatic hepatitis, progressive liver disease, exocrine pancreatic insufficiency, acute renal failure, recurrent infections, ichthyosis, hematologic concern, , hypotonia, global developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | YARS | Sarah Leigh Tag watchlist tag was added to gene: YARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | YARS | Sarah Leigh commented on gene: YARS: The new gene for YARS is YARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | YARS | Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants are associated with Charcot-Marie-Tooth disease, dominant intermediate C 608323, while biallelic variants are associated with a complex phenotype that may include intellectual disability, hearing loss and liver damage. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | YARS | Sarah Leigh Phenotypes for gene: YARS were changed from Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.15 | YARS | Sarah Leigh Classified gene: YARS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.15 | YARS | Sarah Leigh Gene: yars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.14 | YARS | Sarah Leigh Tag for-review tag was added to gene: YARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.14 | YARS |
Sarah Leigh gene: YARS was added gene: YARS was added to Cholestasis. Sources: Literature new-gene-name tags were added to gene: YARS. Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS were set to 30304524; 29232904; 27633801 Phenotypes for gene: YARS were set to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction Review for gene: YARS was set to AMBER Added comment: Biallelic variants in three families with complex clinical conditions including developmental delay and liver damage. PMID 30304524 reports an extended family with microcephaly, expressive language delay, hearing loss, cholestatic liver disease, amongst other features. PMID 29232904 reports a proband whose phenotype included hearing loss, retnititis pigmentosa, hypotonia, transiant fatty liver, but did not include intellectual disability. PMID 27633801 reports two sibblings with hypotionia and liver dysfunction. The older brother at 15 years of age has mild delays, he attends school on an individualized educational program and functions at a grade 3 level. Sources: Literature |
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