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| Possible mitochondrial disorder - nuclear genes v2.5 | NFS1 | Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NFS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v2.5 | NFS1 | Achchuthan Shanmugasundram reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v2.4 | NFS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NFS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Possible mitochondrial disorder - nuclear genes v1.153 | NFS1 | Arina Puzriakova Classified gene: NFS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.153 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.153 | NFS1 | Arina Puzriakova Gene: nfs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.152 | NFS1 | Arina Puzriakova Publications for gene: NFS1 were set to 24498631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.151 | NFS1 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: NFS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.151 | NFS1 | Arina Puzriakova edited their review of gene: NFS1: Added comment: Also now additional paper - PMID 33457206: reporting a second family (consanguineous) with three affected children and supportive functional data. Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background. Suggests this is a mutation hotspot.; Changed rating: GREEN; Changed publications to: 24498631, 33457206 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.151 | NFS1 | Arina Puzriakova changed review comment from: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on current evidence.; to: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on evidence provided in PMID:24498631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.151 | NFS1 | Arina Puzriakova Phenotypes for gene: NFS1 were changed from Infantile mitochondrial complex II/III deficiency to Combined oxidative phosphorylation deficiency 52, OMIM:619386 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.105 | NFS1 | Arina Puzriakova reviewed gene: NFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24498631; Phenotypes: Combined oxidative phosphorylation deficiency 52, OMIM: 619386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.134 | NFS1 | Carl Fratter reviewed gene: NFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24498631; Phenotypes: Infantile mitochondrial complex II/III deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.67 | NFS1 | Ellen McDonagh Classified gene: NFS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.67 | NFS1 | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.67 | NFS1 | Ellen McDonagh Gene: nfs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | NFS1 | Ivone Leong reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24498631; Phenotypes: Infantile mitochondrial complex II/III deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.3 | NFS1 |
Ivone Leong gene: NFS1 was added gene: NFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFS1 were set to 24498631 Phenotypes for gene: NFS1 were set to Infantile mitochondrial complex II/III deficiency |
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