Mitochondrial disorders
Gene: SDHAF1EnsemblGeneIds (GRCh38): ENSG00000205138
EnsemblGeneIds (GRCh37): ENSG00000205138
OMIM: 612848, Gene2Phenotype
SDHAF1 is in 15 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Mitochondrial complex II deficiency, 252011Created: 23 May 2019, 3:21 p.m.
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Multiple unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex II deficiency (Version 0.16).Created: 23 May 2019, 3:20 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Mitochondrial complex II deficiency, 252011
- OMIM
- 612848
- Clinvar variants
- Variants in SDHAF1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex II deficiency
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SDHAF1 were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Mitochondrial complex II deficiency, 252011
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: sdhaf1 has been classified as Green List (High Evidence).
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SDHAF1. Source Expert Review Green was added to SDHAF1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to SDHAF1. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SDHAF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SDHAF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SDHAF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SDHAF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services