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Fetal anomalies

Gene: SUCLG1

Green List (high evidence)
SUCLG1 (succinate-CoA ligase alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000163541
EnsemblGeneIds (GRCh37): ENSG00000163541
OMIM: 611224, Gene2Phenotype
SUCLG1 is in 10 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Genereviews:
29 individuals included in the summary
5 neonates reported with IUGR or were small for gestational age. Rare prenatal manifestations may include oligohydramnios and abnormal fetal heart rate
Created: 21 Feb 2022, 5:09 a.m. | Last Modified: 21 Feb 2022, 5:09 a.m.
Panel Version: 0.3722

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Feb 2022, 5:09 a.m.
Last Modified: 21 Feb 2022, 5:09 a.m.
Panel version: 0.3722

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Mitochondrial DNA depletion syndrome-9 is a severe disorder due to homozygous or compound heterozygous mutations in SUCLG1. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Some patients die in early infancy. At least 5 families reported with some functional evidence for variants.
Created: 21 Feb 2022, 4:54 a.m. | Last Modified: 21 Feb 2022, 4:54 a.m.
Panel Version: 0.3722

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) , OMIM #245400

Publications

Created: 21 Feb 2022, 4:54 a.m.
Last Modified: 21 Feb 2022, 4:54 a.m.
Panel version: 0.3722

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400
OMIM
611224
Clinvar variants
Variants in SUCLG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: suclg1 has been classified as Green List (High Evidence).

21 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SUCLG1 were changed from FATAL INFANTILE LACTIC ACIDOSIS to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400

21 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SUCLG1 were set to 21093335

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SUCLG1 was added gene: SUCLG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLG1 were set to 21093335 Phenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS