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Likely inborn error of metabolism v6.10 RNASEH2A Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: RNASEH2A.
Tag Q1_24_NHS_review was removed from gene: RNASEH2A.
Likely inborn error of metabolism v6.10 RNASEH2A Achchuthan Shanmugasundram reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.9 RNASEH2A Achchuthan Shanmugasundram Source Expert Review Green was added to RNASEH2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism 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.
Likely inborn error of metabolism 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 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 v1.272 RNASEH2A Ivone Leong Classified gene: RNASEH2A as Red List (low evidence)
Likely inborn error of metabolism v1.272 RNASEH2A Ivone Leong Gene: rnaseh2a has been classified as Red List (Low Evidence).
Likely inborn error of metabolism 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 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 v1.271 RNASEH2A Ivone Leong commented on gene: RNASEH2A
Likely inborn error of metabolism v1.47 RNASEH2A Ivone Leong Source NHS GMS was added to RNASEH2A.
Source London North GLH was added to RNASEH2A.
Likely inborn error of metabolism 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