Mitochondrial disorder with complex IV deficiency
Gene: FASTKD2EnsemblGeneIds (GRCh38): ENSG00000118246
EnsemblGeneIds (GRCh37): ENSG00000118246
OMIM: 612322, Gene2Phenotype
FASTKD2 is in 11 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:51 a.m. | Last Modified: 1 Feb 2023, 11:51 a.m.
Panel Version: 2.5
Arina Puzriakova (Genomics England Curator)
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 should be demoted from Green to Red on this panel.
Immunostaining of patient cells by Wei et al. 2020 (PMID: 31944455) indicated combined respiratory chain enzyme deficiencies are associated with variants in this gene. As the scope of this panel is restricted to genes primarily causing isolated complex IV deficiency, FASTKD2 should be demoted at the next GMS panel update.Created: 31 Aug 2022, 3:20 p.m. | Last Modified: 31 Aug 2022, 3:20 p.m.
Panel Version: 1.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 44, OMIM:618855
Publications
Ivone Leong (Genomics England Curator)
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. Gene Symbol submitted: FASTKD2; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex IV deficiency, 220110
Publications
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 44, OMIM:618855
- OMIM
- 612322
- Clinvar variants
- Variants in FASTKD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Removed Tag, Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_22_rating was removed from gene: FASTKD2. Tag Q3_22_NHS_review was removed from gene: FASTKD2. Tag Q3_22_expert_review was removed from gene: FASTKD2.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Red was added to FASTKD2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_expert_review tag was added to gene: FASTKD2.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_NHS_review tag was added to gene: FASTKD2.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: FASTKD2 were set to 28499982
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating tag was added to gene: FASTKD2.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FASTKD2 was added gene: FASTKD2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 28499982 Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110