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Cholestasis v1.105 | GALT | Ivone Leong Tag for-review was removed from gene: GALT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.105 | GALT | Ivone Leong commented on gene: GALT: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.104 | GALT |
Ivone Leong Source Expert Review Green was added to GALT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Cholestasis v1.65 | GALT | Ivone Leong Classified gene: GALT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.65 | GALT |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.7) 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 14 variants reported. Sarah Leigh (Genomics England Curator), 14 Aug 2018 Comment on phenotypes: Phenotype appears to include features relevant to the neonatal cholestasis panel Sarah Leigh (Genomics England Curator), 14 Aug 2018" Therefore, this gene has been given an Amber rating and will be promoted to Green status at the next major review. |
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Cholestasis v1.65 | GALT | Ivone Leong Gene: galt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.64 | GALT | Ivone Leong Classified gene: GALT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.64 | GALT |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.7) 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 14 variants reported. Sarah Leigh (Genomics England Curator), 14 Aug 2018 Comment on phenotypes: Phenotype appears to include features relevant to the neonatal cholestasis panel Sarah Leigh (Genomics England Curator), 14 Aug 2018" Therefore, this gene has been given an Amber rating and will be promoted to Green status at the next major review. |
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Cholestasis v1.64 | GALT | Ivone Leong Gene: galt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.63 | GALT | Ivone Leong Tag for-review tag was added to gene: GALT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.62 | GALT | Ivone Leong Phenotypes for gene: GALT were changed from Galactosemia, MIM# 230400 to Galactosemia, OMIM:230400; MONDO:0018116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.16 | GALT |
Zornitza Stark gene: GALT was added gene: GALT was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 30693370 Phenotypes for gene: GALT were set to Galactosemia, MIM# 230400 Review for gene: GALT was set to GREEN Added comment: Liver disease, including cholestasis is a prominent part of the presenting phenotype of this relatively common, treatable metabolic disorder. Sources: Expert list |
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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 |