Mitochondrial disease
Gene: ACADS
Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.Created: 24 Aug 2022, 8:13 a.m. | Last Modified: 24 Aug 2022, 8:13 a.m.
Panel Version: 0.832
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >10 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 6:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470
Publications
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
Gene: acads has been classified as Amber List (Moderate Evidence).
Gene: acads has been classified as Green List (High Evidence).
Gene: acads has been classified as Green List (High Evidence).
gene: ACADS was added gene: ACADS was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADS were set to 25778941; 2808706; 29678161 Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470 Review for gene: ACADS was set to GREEN