| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fatty Acid Oxidation Defects v1.8 | ETHE1 | Zornitza Stark Tag treatable tag was added to gene: ETHE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.3 | ETHE1 | Zornitza Stark Marked gene: ETHE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.3 | ETHE1 | Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.3 | ETHE1 | Zornitza Stark Classified gene: ETHE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.3 | ETHE1 | Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.2 | ETHE1 |
Zornitza Stark 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 Added comment: 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 Review |
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