Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 18 actions
11 Feb 2021	Likely inborn error of metabolism - targeted testing not possible v2.71	ACADVL	Eleanor Williams Source: Expert Review Red was removed from gene: ACADVL
11 Feb 2021	Likely inborn error of metabolism - targeted testing not possible v2.70	ACADSB	Eleanor Williams Source: Expert Review Red was removed from gene: ACADSB
11 Feb 2021	Likely inborn error of metabolism - targeted testing not possible v2.69	ACADS	Eleanor Williams Source: Expert Review Red was removed from gene: ACADS
11 Feb 2021	Likely inborn error of metabolism - targeted testing not possible v2.68	ACADM	Eleanor Williams Source: Expert Review Red was removed from gene: ACADM
13 Feb 2019	Likely inborn error of metabolism - targeted testing not possible v1.47	ACADVL	Ivone Leong Source NHS GMS was added to ACADVL. Source London North GLH was added to ACADVL.
13 Feb 2019	Likely inborn error of metabolism - targeted testing not possible v1.47	ACADSB	Ivone Leong Source NHS GMS was added to ACADSB. Source London North GLH was added to ACADSB.
13 Feb 2019	Likely inborn error of metabolism - targeted testing not possible v1.47	ACADS	Ivone Leong Source NHS GMS was added to ACADS. Source London North GLH was added to ACADS.
13 Feb 2019	Likely inborn error of metabolism - targeted testing not possible v1.47	ACADM	Ivone Leong Source NHS GMS was added to ACADM. Source London North GLH was added to ACADM.
13 Feb 2019	Likely inborn error of metabolism - targeted testing not possible v1.47	ACAD9	Ivone Leong Source NHS GMS was added to ACAD9. Source London North GLH was added to ACAD9.
13 Feb 2019	Likely inborn error of metabolism - targeted testing not possible v1.47	ACAD8	Ivone Leong Source NHS GMS was added to ACAD8. Source London North GLH was added to ACAD8.
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	CAD	Ellen McDonagh gene: CAD was added gene: CAD was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAD were set to ?Congenital disorder of glycosylation, type Iz 616457
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	ACADVL	Ellen McDonagh gene: ACADVL was added gene: ACADVL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 27604308 Phenotypes for gene: ACADVL were set to VLCAD deficiency; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	ACADSB	Ellen McDonagh gene: ACADSB was added gene: ACADSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 27604308 Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria 610006; 2-Methylbutyric aciduria (Organic acidurias)
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	ACADS	Ellen McDonagh gene: ACADS was added gene: ACADS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADS were set to 27604308; 24816252 Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	ACADM	Ellen McDonagh gene: ACADM was added gene: ACADM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 27604308; 24816252 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	ACAD9	Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: ACAD9 Publications for gene ACAD9 were changed from PMID:17564966; 21057504 to 27604308
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	ACAD9	Ellen McDonagh gene: ACAD9 was added gene: ACAD9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to PMID:17564966; 21057504 Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Isolated complex I deficiency
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	ACAD8	Ellen McDonagh gene: ACAD8 was added gene: ACAD8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD8 were set to 27604308 Phenotypes for gene: ACAD8 were set to Isobutyric aciduria (Organic acidurias)