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Likely inborn error of metabolism v8.94 SLC25A24 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: SLC25A24.
Likely inborn error of metabolism v8.94 SLC25A24 Achchuthan Shanmugasundram commented on gene: SLC25A24: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v8.93 SLC25A24 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v8.44 SLC25A24 Achchuthan Shanmugasundram Classified gene: SLC25A24 as Amber List (moderate evidence)
Likely inborn error of metabolism v8.44 SLC25A24 Achchuthan Shanmugasundram Added comment: Comment on list classification: SLC25A24 has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/SLC25A24/) as detailed in the below reviews copied from that panel.

As there is sufficient evidence available for the gene-disease association, this gene can be promoted to green rating on this panel in the next GMS update.
Likely inborn error of metabolism v8.44 SLC25A24 Achchuthan Shanmugasundram Gene: slc25a24 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v8.43 SLC25A24 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SLC25A24.
Likely inborn error of metabolism v8.43 SLC25A24 Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism v8.43 SLC25A24 Achchuthan Shanmugasundram gene: SLC25A24 was added
gene: SLC25A24 was added to Likely inborn error of metabolism. Sources: Expert list,NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC25A24 were set to 29903433; 29100093; 29100094
Phenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome, OMIM:612289; Fontaine progeroid syndrome, MONDO:0012853
Likely inborn error of metabolism v2.96 SLC25A22 Eleanor Williams Source: Expert Review Red was removed from gene: SLC25A22
Likely inborn error of metabolism v2.95 SLC25A20 Eleanor Williams Source: Expert Review Red was removed from gene: SLC25A20
Likely inborn error of metabolism v1.47 SLC25A22 Ivone Leong Source NHS GMS was added to SLC25A22.
Source London North GLH was added to SLC25A22.
Likely inborn error of metabolism v1.47 SLC25A20 Ivone Leong Source NHS GMS was added to SLC25A20.
Source London North GLH was added to SLC25A20.
Likely inborn error of metabolism v1.47 SLC25A2 Ivone Leong Source NHS GMS was added to SLC25A2.
Source London North GLH was added to SLC25A2.
Likely inborn error of metabolism v0.4 SLC25A2 Ellen McDonagh gene: SLC25A2 was added
gene: SLC25A2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC25A2 was set to Unknown
Publications for gene: SLC25A2 were set to 27604308
Phenotypes for gene: SLC25A2 were set to Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Likely inborn error of metabolism v0.4 SLC25A26 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness for gene: SLC25A26
Publications for gene SLC25A26 were changed from PMID: 26522469 to 26522469
Likely inborn error of metabolism v0.4 SLC25A26 Ellen McDonagh gene: SLC25A26 was added
gene: SLC25A26 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A26 were set to PMID: 26522469
Phenotypes for gene: SLC25A26 were set to Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness
Likely inborn error of metabolism v0.4 SLC25A22 Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SLC25A22
Publications for gene SLC25A22 were changed from to 27604308
Likely inborn error of metabolism v0.4 SLC25A22 Ellen McDonagh gene: SLC25A22 was added
gene: SLC25A22 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304
Likely inborn error of metabolism v0.4 SLC25A20 Ellen McDonagh gene: SLC25A20 was added
gene: SLC25A20 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 27604308
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)