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Likely inborn error of metabolism - targeted testing not possible v4.131 | RNASEH2A | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.131 | RNASEH2A | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.131 | RNASEH2A | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.131 | RNASEH2A | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.131 | RNASEH2A | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.131 | RNASEH2A |
Sarah Leigh Tag Q1_24_promote_green tag was added to gene: RNASEH2A. Tag Q1_24_NHS_review tag was added to gene: RNASEH2A. |
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Likely inborn error of metabolism - targeted testing not possible v4.131 | RNASEH2A | Sarah Leigh edited their review of gene: RNASEH2A: Added comment: Saikat Santra (Birmingham Children's Hospital)(23 Jan 2024), has suggested that this gene should be green on this panel - R98.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.122 | RNASEH2A | Saikat Santra reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intracerebral calcification disorders, Inherited White Matter Disorders, Inherited basal ganglia disease; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.272 | RNASEH2A | Ivone Leong Classified gene: RNASEH2A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.272 | RNASEH2A | Ivone Leong Gene: rnaseh2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.271 | RNASEH2A | Ivone Leong changed review comment from: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene will remain Amber.; to: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. There are >3 unrelated cases on OMIM supporting the gene-disease link between RNASEH2A with Aicardi-Goutieres syndrome; however, RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.271 | RNASEH2A | Ivone Leong commented on gene: RNASEH2A: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene will remain Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.271 | RNASEH2A | Ivone Leong commented on gene: RNASEH2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | RNASEH2A |
Ivone Leong Source NHS GMS was added to RNASEH2A. Source London North GLH was added to RNASEH2A. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH2A |
Ellen McDonagh gene: RNASEH2A was added gene: RNASEH2A was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 27604308 Phenotypes for gene: RNASEH2A were set to Intellectual disability; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4; Inherited white matter disorders |