| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v1.105 | NBAS |
Ivone Leong Tag for-review was removed from gene: NBAS. Tag Q1_22_NHS_review was removed from gene: NBAS. |
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| Cholestasis v1.105 | NBAS | Ivone Leong commented on gene: NBAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.104 | NBAS |
Ivone Leong Source Expert Review Green was added to NBAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v1.103 | NBAS | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: NBAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.103 | NBAS | Ivone Leong Phenotypes for gene: NBAS were changed from Infantile liver failure syndrome 2, 616483 to Infantile liver failure syndrome 2, OMIM:616483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.100 | NBAS | Miranda Durkie reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31761904; Phenotypes: Infantile liver failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.60 | NBAS |
Ivone Leong commented on gene: NBAS: After consultation with the Genomics Clinical Team this gene has been left on this panel for the following reason: "Helen Brittain (Genomics England): Infantile liver failure: the evidence for this seems good. It doesn't clearly map to any of our panels or the GMS indications. The closest would probably be cholestasis. I think it is worth adding there as amber, for expert phenotypic review in the next GMS iteration." |
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| Cholestasis v1.60 | NBAS |
Ivone Leong changed review comment from: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. This gene has been given an Amber review and tagged with "for-review" for the next major update of this panel. Sources: Literature; to: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. This gene has been given an Amber review and tagged with "for-review" for the next major update of this panel. Sources: Literature |
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| Cholestasis v1.16 | NBAS | Zornitza Stark reviewed gene: NBAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.13 | NBAS |
Ivone Leong changed review comment from: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. Sources: Literature; to: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. This gene has been given an Amber review and tagged with "for-review" for the next major update of this panel. Sources: Literature |
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| Cholestasis v1.13 | NBAS | Ivone Leong Publications for gene: NBAS were set to 26541327, 28629372, 30622725, 26073778, 32146038, 31761904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.12 | NBAS | Ivone Leong Classified gene: NBAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.12 | NBAS | Ivone Leong Gene: nbas has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.11 | NBAS |
Ivone Leong gene: NBAS was added gene: NBAS was added to Cholestasis. Sources: Literature for-review tags were added to gene: NBAS. Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 26541327, 28629372, 30622725, 26073778, 32146038, 31761904 Phenotypes for gene: NBAS were set to Infantile liver failure syndrome 2, 616483 Review for gene: NBAS was set to AMBER Added comment: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. Sources: Literature |
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