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Cholestasis v1.105 | GALE |
Ivone Leong Tag for-review was removed from gene: GALE. Tag Q1_22_NHS_review was removed from gene: GALE. |
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Cholestasis v1.105 | GALE | Ivone Leong commented on gene: GALE: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.104 | GALE |
Ivone Leong Source Expert Review Green was added to GALE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Cholestasis v1.103 | GALE | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: GALE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.100 | GALE | Miranda Durkie reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21290786; Phenotypes: Epimerase deficiency galactosemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.67 | GALE | Ivone Leong Classified gene: GALE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.67 | GALE | Ivone Leong Gene: gale has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.66 | GALE |
Ivone Leong gene: GALE was added gene: GALE was added to Cholestasis. Sources: Expert Review for-review tags were added to gene: GALE. Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALE were set to 27604308 Phenotypes for gene: GALE were set to Galactose epimerase deficiency, OMIM:230350; MONDO:0009257 Review for gene: GALE was set to AMBER Added comment: This gene is associated with an appropriate phenotype in OMIM and Gene2phenotype. It is a Green gene on Inborn errors of metabolism (v2.28) and Fetal anomalies (v1.111). There is enough evidence for a gene-disease association. After discussion with the Genomics England Clinical Team, it was decided that this gene should be added as an Amber gene on this panel as the phenotype can mimic cholestasis with a presentation with jaundice. Sources: Expert Review |
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Cholestasis v1.3 | GALM |
Zornitza Stark gene: GALM was added gene: GALM was added to Cholestasis. Sources: Literature Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALM were set to 30451973; 30910422 Phenotypes for gene: GALM were set to type IV galactosaemia Review for gene: GALM was set to GREEN Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) Note only two individuals were reported as having transient cholestasis. Sources: Literature |