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Additional findings_Paediatric

Gene: SOD1

Red List (low evidence)

SOD1 (superoxide dismutase 1)
EnsemblGeneIds (GRCh38): ENSG00000142168
EnsemblGeneIds (GRCh37): ENSG00000142168
OMIM: 147450, Gene2Phenotype
SOD1 is in 8 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Amyotrophic lateral sclerosis
OMIM
147450
Clinvar variants
Variants in SOD1
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOD1 was added gene: SOD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis