Hyperammonaemia
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
- Genomics England PanelApp
- Phenotypes
-
- MEGDHEL syndrome
- MEGDEL syndrome
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
- 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
- Hypoglycemia
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SERAC1 was added gene: SERAC1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 27604308; 28482397; 27186703; 22683713; 28778788; 16527507; 29205472 Phenotypes for gene: SERAC1 were set to MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Hypoglycemia