Fatty Acid Oxidation Defects
Gene: ETHE1EnsemblGeneIds (GRCh38): ENSG00000105755
EnsemblGeneIds (GRCh37): ENSG00000105755
OMIM: 608451, Gene2Phenotype
ETHE1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.
The disorder is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.
Although not a FAO disorder, included on this panel as the initial metabolic findings are often suggestive of MADD or potentially a riboflavin transporter defect.
Sources: Expert ReviewCreated: 18 Nov 2021, 6:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ethylmalonic encephalopathy, MIM# 602473
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Ethylmalonic encephalopathy, MIM# 602473
- Tags
- OMIM
- 608451
- Clinvar variants
- Variants in ETHE1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Fatty Acid Oxidation Defects
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ETHE1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ethe1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ethe1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ETHE1 was added gene: ETHE1 was added to Fatty Acid Oxidation Defects. Sources: Expert Review Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETHE1 were set to 18593870 Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM# 602473 Review for gene: ETHE1 was set to GREEN