Possible mitochondrial disorder - nuclear genes
Gene: NDUFA12
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 1:12 p.m. | Last Modified: 1 Feb 2023, 1:12 p.m.
Panel Version: 2.5
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.Created: 30 Aug 2022, 9:10 a.m. | Last Modified: 30 Aug 2022, 9:10 a.m.
Panel Version: 1.99
At least 17 individuals from 11 unrelated families identified with different homozygous variants in this gene. Phenotypic variability was evident among cases ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy - although there are sufficient cases presenting with each feature to make Green on the respective gene panels (PMID: 21617257; 33715266; 35141356).Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 1.98
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Publications
Variants in this GENE are reported as part of current diagnostic practice
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 23, 618244
Publications
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.Created: 29 Mar 2019, 1:52 p.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 23, 618244
Tag Q3_22_rating was removed from gene: NDUFA12. Tag Q3_22_NHS_review was removed from gene: NDUFA12.
Source Expert Review Green was added to NDUFA12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23, 618244 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Publications for gene: NDUFA12 were set to
Tag Q3_22_rating tag was added to gene: NDUFA12. Tag Q3_22_NHS_review tag was added to gene: NDUFA12.
Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
gene: NDUFA12 was added gene: NDUFA12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244