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Prepair 1000+

Gene: SDHAF1

Green List (high evidence)
SDHAF1 (succinate dehydrogenase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000205138
EnsemblGeneIds (GRCh37): ENSG00000205138
OMIM: 612848, Gene2Phenotype
SDHAF1 is in 8 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Multisystemic metabolic disorder with variable severity and features. Most patients present with neurologic deterioration in infancy or early childhood after normal early development (OMIM).

More than 5 families reported, functional data.
Created: 6 Jan 2025, 3:04 a.m. | Last Modified: 6 Jan 2025, 3:04 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex II deficiency, nuclear type 2, MIM#619166

Publications

Created: 6 Jan 2025, 3:04 a.m.
Last Modified: 6 Jan 2025, 3:04 a.m.
Panel version: 1.992

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex II deficiency, nuclear type 2, MIM#619166
OMIM
612848
Clinvar variants
Variants in SDHAF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sdhaf1 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, 252011 (3) to Mitochondrial complex II deficiency, nuclear type 2, MIM#619166

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SDHAF1 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SDHAF1 was added gene: SDHAF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3)