Aminoacidopathy
Gene: SERAC1EnsemblGeneIds (GRCh38): ENSG00000122335
EnsemblGeneIds (GRCh37): ENSG00000122335
OMIM: 614725, Gene2Phenotype
SERAC1 is in 14 panels
1 review
Samantha Ayres (Victorian Clinical Genetics Services)
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 listCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875
- OMIM
- 614725
- Clinvar variants
- Variants in SERAC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early-onset Parkinson disease
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Prepair 1000+
- Liver Failure_Paediatric
- Dystonia - complex
- Mendeliome
- Mitochondrial disease
- Hyperammonaemia
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: serac1 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SERAC1 were set to 29152456
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: serac1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SERAC1 was added gene: SERAC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 29152456 Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875