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Likely inborn error of metabolism - targeted testing not possible v3.6 | NFS1 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NFS1. Tag treatable tag was added to gene: NFS1. |
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Likely inborn error of metabolism - targeted testing not possible v3.6 | NFS1 | Achchuthan Shanmugasundram reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.5 | NFS1 |
Achchuthan Shanmugasundram Source NHS GMS was added to NFS1. Source Expert Review Green was added to NFS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v2.310 | NFS1 | Arina Puzriakova Classified gene: NFS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.310 | NFS1 | Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS review - associated with relevant phenotype in OMIM (MIM#619386) but not yet in G2P. At least one variant reported in six cases from two unrelated families, together with supportive functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.310 | NFS1 | Arina Puzriakova Gene: nfs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.309 | NFS1 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: NFS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.309 | NFS1 | Arina Puzriakova reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24498631, 33457206; Phenotypes: Combined oxidative phosphorylation deficiency 52, OMIM: 619386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.309 | NFS1 | Arina Puzriakova Mode of inheritance for gene: NFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.308 | NFS1 | Arina Puzriakova Publications for gene: NFS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.307 | NFS1 | Arina Puzriakova Phenotypes for gene: NFS1 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 52, OMIM:619386 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.373 | NFS1 | Catherine Snow edited their review of gene: NFS1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.373 | NFS1 | Catherine Snow commented on gene: NFS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NFS1 |
Ellen McDonagh gene: NFS1 was added gene: NFS1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NFS1 was set to Unknown Phenotypes for gene: NFS1 were set to No OMIM phenotype |