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Mitochondrial disorders v1.477 ISCU Sarah Leigh Added comment: Comment on mode of inheritance: PMID 29079705 reports a novel de novo dominant variant in ISCU associated with mitochondrial myopathy, which justifies the mode of inheritance recorded here.
Mitochondrial disorders v1.477 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.470 ISCU Sarah Leigh Publications for gene: ISCU were set to 18296749; 29079705; 19567699; 20206689
Mitochondrial disorders v1.469 ISCU Sarah Leigh changed review comment from: Comment on list classification: Sufficient publshed reported biallelic cases, together with a heterozygous case with supportive functional studies.; to: Comment on list classification: Sufficient published reported biallelic cases, with supportive functional studies. The most frequent reported variant c.343+382G>C g.108567650G>C is deep in intron five of the gene and strengthens a weak splicing acceptor site, with consequent retention of a 100-bp intronic sequence upstream of the known terminal exon, introduction of a stop codon and decreased levels of ISCU mRNA and protein (PMID 18304497). This may be missed by standard sequencing.
Mitochondrial disorders v1.469 ISCU Sarah Leigh edited their review of gene: ISCU: Changed publications: 18304497
Mitochondrial disorders v1.469 ISCU Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Mitochondrial disorders v1.302 CA5A Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Multiple unrelated families; discussed & agreed that this should be included within 'primary mitochondrial disease' (symptoms include hyperammonemia, hyperlactatemia and ketonuria).
Mitochondrial disorders v1.244 FDX2 Ivone Leong Added comment: Comment on phenotypes: The phenotype was previously "?Mitochondrial myopathy with lactic acidosis, association with, 255125"; however, this OMIM number corresponds to the gene, ISCU. I have removed this OMIM number and replaced with "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900".
Mitochondrial disorders v1.168 ISCU Sarah Leigh Classified gene: ISCU as Green List (high evidence)
Mitochondrial disorders v1.168 ISCU Sarah Leigh Added comment: Comment on list classification: Sufficient publshed reported biallelic cases, together with a heterozygous case with supportive functional studies.
Mitochondrial disorders v1.168 ISCU Sarah Leigh Gene: iscu has been classified as Green List (High Evidence).
Mitochondrial disorders v1.167 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.166 ISCU Sarah Leigh Tag founder-effect tag was added to gene: ISCU.
Mitochondrial disorders v1.166 ISCU Sarah Leigh Publications for gene: ISCU were set to
Mitochondrial disorders v1.165 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.121 IDH3B Ellen McDonagh Added comment: Comment on list classification: This gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019, and the decision was made to make this gene Amber.
Mitochondrial disorders v1.119 HARS2 Ellen McDonagh Added comment: Comment on list classification: This gene was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that Perrault syndrome was relevant for this panel, and that there was enough evidence for the gene to be Green.
Mitochondrial disorders v1.110 ECSIT Ellen McDonagh Added comment: Comment on list classification: The evidence underlying this gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that this gene should be Red due to insufficient evidence; no cases have yet been reported in the literature and its role is not yet completely understood.
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Mitochondrial disorders v1.72 FXN_GAA Arianna Tucci STR: FXN_GAA was added
STR: FXN_GAA was added to Mitochondrial disorders. Sources: Expert Review
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Review for STR: FXN_GAA was set to GREEN
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Mitochondrial disorders v1.71 DMPK_CTG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Mitochondrial disorders v1.70 DMPK_CTG Arianna Tucci STR: DMPK_CTG was added
STR: DMPK_CTG was added to Mitochondrial disorders. Sources: Expert Review
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: DMPK_CTG was marked as current diagnostic
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Mitochondrial disorders ISCU Zornitza Stark reviewed gene: ISCU