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| Likely inborn error of metabolism - targeted testing not possible v2.25 | GALM |
Ivone Leong gene: GALM was added gene: GALM was added to Inborn errors of metabolism. Sources: Expert Review,Literature for-review tags were added to gene: GALM. 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 Galactosemia IV, 618881 Review for gene: GALM was set to GREEN Added comment: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with an appropriate phenotype in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be Green. The gene has been given an Amber rating and will be promoted to Green at the next review. Review from Zornitza Stark (Australian Genomics) on the Cholestasis panel: 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 Zornitza Stark (Australian Genomics), 2 May 2020 Sources: Expert Review, Literature |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | GALK1 |
Ivone Leong Source NHS GMS was added to GALK1. Source London North GLH was added to GALK1. |
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| Likely inborn error of metabolism - targeted testing not possible v1.18 | GALK1 | Louise Daugherty Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts, 230200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | GALK1 |
Ellen McDonagh gene: GALK1 was added gene: GALK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal |
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