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Mendeliome v1.254 ACADS Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence)
Mendeliome v1.254 ACADS Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence).
Mendeliome v1.253 ACADS Zornitza Stark changed review comment from: Definitive by ClinGen.; to: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.
Mendeliome v1.253 ACADS Zornitza Stark edited their review of gene: ACADS: Changed rating: AMBER
Mendeliome v0.11717 ACADSB Elena Savva Marked gene: ACADSB as ready
Mendeliome v0.11717 ACADSB Elena Savva Gene: acadsb has been classified as Green List (High Evidence).
Mendeliome v0.11711 ACADSB Elena Savva Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria MIM#610006
Mendeliome v0.11709 ACADSB Elena Savva Publications for gene: ACADSB were set to
Mendeliome v0.11709 ACADSB Elena Savva Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11708 ACADSB Elena Savva reviewed gene: ACADSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25778941, 17945527; Phenotypes: 2-methylbutyrylglycinuria MIM#610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10306 ACADS Zornitza Stark Marked gene: ACADS as ready
Mendeliome v0.10306 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Mendeliome v0.10306 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Mendeliome v0.10305 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Mendeliome v0.10304 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10303 ACADS Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 ACADSB Zornitza Stark gene: ACADSB was added
gene: ACADSB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACADSB was set to Unknown
Mendeliome v0.0 ACADS Zornitza Stark gene: ACADS was added
gene: ACADS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACADS was set to Unknown