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Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Tag Q1_24_promote_green tag was added to gene: RNASEH2B.
Tag Q1_24_NHS_review tag was added to gene: RNASEH2B.
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh edited their review of gene: RNASEH2B: 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 RNASEH2B Saikat Santra reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intracerebral calcification disorders, Inherited White Matter Disorders, Inherited basal ganglia disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.203 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2; Intracerebral calcification disorders; Inherited white matter disorders to Aicardi-Goutieres syndrome 2, OMIM:610181
Likely inborn error of metabolism - targeted testing not possible v1.273 RNASEH2B Ivone Leong changed review comment from: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.; to: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM about RNASEH2B causing Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.273 RNASEH2B Ivone Leong Classified gene: RNASEH2B as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.273 RNASEH2B Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.273 RNASEH2B Ivone Leong Gene: rnaseh2b has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.47 RNASEH2B Ivone Leong Source NHS GMS was added to RNASEH2B.
Source London North GLH was added to RNASEH2B.
Likely inborn error of metabolism - targeted testing not possible v0.4 RNASEH2B Ellen McDonagh gene: RNASEH2B was added
gene: RNASEH2B was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to 27604308
Phenotypes for gene: RNASEH2B were set to Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2; Intracerebral calcification disorders; Inherited white matter disorders