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Date	Panel	Item	Activity
Filter activities 6 actions
12 Oct 2022	Regression v0.507	ETHE1	Zornitza Stark Tag treatable tag was added to gene: ETHE1.
27 Oct 2021	Regression v0.381	ETHE1	Zornitza Stark Marked gene: ETHE1 as ready
27 Oct 2021	Regression v0.381	ETHE1	Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
27 Oct 2021	Regression v0.381	ETHE1	Zornitza Stark Classified gene: ETHE1 as Green List (high evidence)
27 Oct 2021	Regression v0.381	ETHE1	Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
27 Oct 2021	Regression v0.380	ETHE1	Zornitza Stark gene: ETHE1 was added gene: ETHE1 was added to Regression. Sources: Expert Review Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETHE1 were set to 14732903; 28933811 Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy , MIM#602473 Review for gene: ETHE1 was set to GREEN Added comment: Severe metabolic disorder 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. Multiple families reported. Sources: Expert Review