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Mitochondrial disease

Gene: SERAC1

Green List (high evidence)
SERAC1 (serine active site containing 1)
EnsemblGeneIds (GRCh38): ENSG00000122335
EnsemblGeneIds (GRCh37): ENSG00000122335
OMIM: 614725, Gene2Phenotype
SERAC1 is in 14 panels

1 review

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

Copied from previous curation in 2020 by Zornitza Stark:
Autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. About 50% develop severe, but transient, liver dysfunction and/or signs of liver failure, in the neonatal period or during the first year of life.

More than 50 unrelated families reported.
Sources: Expert list
Created: 28 Mar 2022, 2:23 a.m. | Last Modified: 28 Mar 2022, 2:23 a.m.
Panel Version: 0.12066

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739

Publications

Created: 28 Mar 2022, 2:23 a.m.
Last Modified: 28 Mar 2022, 2:23 a.m.
Panel version: Imported from Mendeliome panel version 0.12066

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SERAC1 was added gene: SERAC1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SERAC1 was set to Unknown