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Likely inborn error of metabolism - targeted testing not possible v3.6 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Likely inborn error of metabolism - targeted testing not possible v3.6 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Likely inborn error of metabolism - targeted testing not possible v3.5 SDHA Achchuthan Shanmugasundram Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.305 SDHA Arina Puzriakova Publications for gene: SDHA were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.304 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from Leigh syndrome, 256000; Paragangliomas 5, 614165; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011; Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Cardiomyopathy, dilated, 1GG, OMIM:613642
Likely inborn error of metabolism - targeted testing not possible v2.265 SDHA Arina Puzriakova reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683074, 10976639, 33471299; Phenotypes: Cardiomyopathy, dilated, 1GG, OMIM: 613642, Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.264 SDHA Arina Puzriakova Tag Q3_22_MOI tag was added to gene: SDHA.
Likely inborn error of metabolism - targeted testing not possible v1.277 SDHAF2 Ivone Leong edited their review of gene: SDHAF2: Added comment: 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.

This gene is present as an Amber gene on the Mitochondrial disorder with complex II deficiency (v 1.0) and Possible mitochondrial disorder - nuclear genes (v 1.12). Both GMS panels have been signed off by the GMS Metabolic Consensus Specialist Test Group. Therefore, this gene will remain Amber until further evidence is available.; Changed rating: AMBER
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHAF2 Ivone Leong Source NHS GMS was added to SDHAF2.
Source London North GLH was added to SDHAF2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHAF1 Ivone Leong Source NHS GMS was added to SDHAF1.
Source London North GLH was added to SDHAF1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHA Ivone Leong Source NHS GMS was added to SDHA.
Source London North GLH was added to SDHA.
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHAF2 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHAF2
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHAF2 Ellen McDonagh gene: SDHAF2 was added
gene: SDHAF2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SDHAF2 were set to 27604308
Phenotypes for gene: SDHAF2 were set to Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHAF1 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Isolated complex II deficiency for gene: SDHAF1
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHAF1 Ellen McDonagh gene: SDHAF1 was added
gene: SDHAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHAF1 were set to 27604308
Phenotypes for gene: SDHAF1 were set to Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Isolated complex II deficiency; Mitochondrial Respiratory Chain Complex II Deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHA Ellen McDonagh Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency for gene: SDHA
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHA were set to 27604308
Phenotypes for gene: SDHA were set to Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency