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BabyScreen+ newborn screening v0.1820 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
BabyScreen+ newborn screening v0.1820 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1820 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
BabyScreen+ newborn screening v0.1820 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1819 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to gNBS. Sources: Expert list
treatable, metabolic tags were added to gene: ECHS1.
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 32642440
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277
Review for gene: ECHS1 was set to GREEN
Added comment: Well established gene-disease association.

Usually presents in infancy.

Treatable-ID – level 4 evidence: valine restriction improves psychomotor/cognitive development/IQ; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations (PMID: 32642440)
Sources: Expert list