GLEAM-DB

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Input query
Recognized gene
ACAD8
Normalized c.HGVS
c.1147G>A, c.1154A>G, c.233T>C, c.235C>G, c.250C>G and 11 more
Normalized p.HGVS
p.(Ala113Thr), p.(Ala269Val), p.(Ala329Thr), p.(Ala383Thr), p.(Arg102His) and 11 more
Matching records
30
PM3-positive records
11

Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
ACAD8 NM_014384.3:c.235C>G Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.286G>A; Gly96Ser
context: Compound heterozygous candidate
 41892026
Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.
International journal of neonatal screening, 2026
 Main article
Open
ACAD8 NM_014384.3:c.455T>C Phase-unconfirmed biallelic evidence
High confidence
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
 41606743
Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?
Orphanet journal of rare diseases, 2026
 Main article
Open
ACAD8 NM_014384.3:c.235C>G Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1000 C > T; p.R334C
context: Compound heterozygous candidate
 40835664
Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.
Scientific reports, 2025
 Main article
Open
ACAD8 NM_014384.3:c.887G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.286G>A; p.G96S
context: Compound heterozygous candidate
 38105686
Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2023
 Supplementary material
Open
ACAD8 NM_014384.3:c.235C>G Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1000C > T; c.286G > A; p.G96S; +1 more
context: Compound heterozygous candidate
 34544473
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
Orphanet journal of rare diseases, 2021
 Main article
Open
ACAD8 NM_014384.3:c.455T>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.286G > A; p.G96S
context: Compound heterozygous candidate
 34544473
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
Orphanet journal of rare diseases, 2021
 Main article
Open
ACAD8 NM_014384.3:c.1154A>G Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.455T>C; Met152Thr
context: Compound heterozygous candidate
 33432785
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Molecular genetics & genomic medicine, 2021
 Main article
Open
ACAD8 NM_014384.3:c.233T>C Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 33432785
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Molecular genetics & genomic medicine, 2021
 Main article
Open
ACAD8 NM_014384.3:c.235C>G Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1000C > T; Arg334Cys
context: Compound heterozygous candidate
 33432785
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Molecular genetics & genomic medicine, 2021
 Main article
Open
ACAD8 NM_014384.3:c.455T>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1154A>G; c.289G>A; c.443C>T; +3 more
context: Compound heterozygous candidate
 33432785
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Molecular genetics & genomic medicine, 2021
 Main article
Open
ACAD8 NM_014384.3:c.481A>G Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 33432785
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Molecular genetics & genomic medicine, 2021
 Main article
Open
ACAD8 NM_014384.3:c.887G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36582804
Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.
Frontiers in oncology, 2022
 Main article
Open
ACAD8 NM_014384.3:c.985G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36387175
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Frontiers in oncology, 2022
 Main article and supplement
Open
ACAD8 NM_014384.3:c.250C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 35304488
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
NPJ genomic medicine, 2022
 Main article and supplement
Open
ACAD8 NM_014384.3:c.1154A>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 34535384
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
Molecular genetics and metabolism, 2021
 Main article
Open
ACAD8 NM_014384.3:c.730C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 32904945
Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.
Neuro-oncology advances, 2020
 Main article
Open
ACAD8 NM_014384.3:c.806C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 32579932
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell reports, 2020
 Main article and supplement
Open
ACAD8 NM_014384.3:c.305G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 32055024
NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.
Oncogene, 2020
 Main article and supplement
Open
ACAD8 NM_014384.3:c.455T>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31133529
Metabolic analysis reveals evidence for branched chain amino acid catabolism crosstalk and the potential for improved treatment of organic acidurias.
Molecular genetics and metabolism, 2019
 Main article
Open
ACAD8 NM_014384.3:c.275A>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 30019023
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Journal of the Endocrine Society, 2018
 Main article and supplement
Open