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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.
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)
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