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Fatty Acid Oxidation Defects v1.14 ACSL5 Zornitza Stark Phenotypes for gene: ACSL5 were changed from Diarrhoea 13, MIM# 620357 to Diarrhoea 13, MIM# 620357
Fatty Acid Oxidation Defects v1.14 ACSL5 Zornitza Stark Phenotypes for gene: ACSL5 were changed from Diarrhea 13, MIM# 620357 to Diarrhoea 13, MIM# 620357
Fatty Acid Oxidation Defects v1.13 ACSL5 Zornitza Stark Phenotypes for gene: ACSL5 were changed from Diarrhea 13, MIM# 620357 to Diarrhea 13, MIM# 620357
Fatty Acid Oxidation Defects v1.13 ACSL5 Zornitza Stark Phenotypes for gene: ACSL5 were changed from severe FTT (no OMIM #) to Diarrhea 13, MIM# 620357
Fatty Acid Oxidation Defects v1.12 FLAD1 Bryony Thompson Publications for gene: FLAD1 were set to 25058219; 27259049; 16643857; 20060505
Fatty Acid Oxidation Defects v1.11 FLAD1 Bryony Thompson Classified gene: FLAD1 as Green List (high evidence)
Fatty Acid Oxidation Defects v1.11 FLAD1 Bryony Thompson Added comment: Comment on list classification: ClinGen FAOD GCEP upgraded the classification of the gene-disease association to DEFINITIVE on 16/12/2020, adding new evidence from the following publications PMIDs: 30061063, 30982706, 30311138, 31392824, 30427553
Fatty Acid Oxidation Defects v1.11 FLAD1 Bryony Thompson Gene: flad1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v1.10 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fatty Acid Oxidation Defects v1.9 GLUD1 Zornitza Stark edited their review of gene: GLUD1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fatty Acid Oxidation Defects v1.9 Zornitza Stark HPO terms changed from to Abnormal circulating fatty acid concentration, HP:0004359; Rhabdomyolysis, HP:0003201; Hypoglycaemia, HP:0001943
List of related panels changed from to Abnormal circulating fatty acid concentration; HP:0004359; Rhabdomyolysis; HP:0003201; Hypoglycaemia; HP:0001943
Fatty Acid Oxidation Defects v1.8 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Fatty Acid Oxidation Defects v1.8 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Fatty Acid Oxidation Defects v1.8 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Fatty Acid Oxidation Defects v1.8 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Fatty Acid Oxidation Defects v1.8 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Fatty Acid Oxidation Defects v1.8 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Fatty Acid Oxidation Defects v1.8 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Fatty Acid Oxidation Defects v1.8 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Fatty Acid Oxidation Defects v1.8 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Fatty Acid Oxidation Defects v1.8 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Fatty Acid Oxidation Defects v1.8 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Fatty Acid Oxidation Defects v1.8 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Fatty Acid Oxidation Defects v1.8 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Fatty Acid Oxidation Defects v1.8 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Fatty Acid Oxidation Defects v1.8 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Fatty Acid Oxidation Defects v1.8 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Fatty Acid Oxidation Defects v1.8 ACADS Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence)
Fatty Acid Oxidation Defects v1.8 ACADS Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v1.7 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.
Fatty Acid Oxidation Defects v1.7 ACADS Zornitza Stark edited their review of gene: ACADS: Changed rating: AMBER
Fatty Acid Oxidation Defects v1.7 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760
Fatty Acid Oxidation Defects v1.6 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760
Fatty Acid Oxidation Defects v1.5 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760
Fatty Acid Oxidation Defects v1.5 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760
Fatty Acid Oxidation Defects v1.4 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
Fatty Acid Oxidation Defects v1.3 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Fatty Acid Oxidation Defects v1.3 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v1.3 ETHE1 Zornitza Stark Classified gene: ETHE1 as Green List (high evidence)
Fatty Acid Oxidation Defects v1.3 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v1.2 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Fatty Acid Oxidation Defects. Sources: Expert Review
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETHE1 were set to 18593870
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM# 602473
Review for gene: ETHE1 was set to GREEN
Added comment: Well established gene-disease association.

The disorder is 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.

Although not a FAO disorder, included on this panel as the initial metabolic findings are often suggestive of MADD or potentially a riboflavin transporter defect.
Sources: Expert Review
Fatty Acid Oxidation Defects v1.1 ACSL5 Zornitza Stark Marked gene: ACSL5 as ready
Fatty Acid Oxidation Defects v1.1 ACSL5 Zornitza Stark Gene: acsl5 has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v1.1 ACSL5 Chirag Patel gene: ACSL5 was added
gene: ACSL5 was added to Fatty Acid Oxidation Defects. Sources: Literature
Mode of inheritance for gene: ACSL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSL5 were set to PMID: 33191500
Phenotypes for gene: ACSL5 were set to severe FTT (no OMIM #)
Review for gene: ACSL5 was set to RED
Added comment: 6 individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Autozygosity mapping and WES identified homozygous variant (c.1358C>A:p.(Thr453Lys) in ACSL5. Segregated with affected individuals.

Functional in vitro analysis of the ACSL5 variant by immunofluorescence, western blotting and enzyme assay suggested that Thr453Lys is a loss‐of‐function mutation without any remaining activity.

Affected individuals were treated with total parenteral nutrition or medium‐chain triglyceride‐based formula restricted in long‐chain triglycerides. They responded well and follow up suggests that treatment is only required during early life.
Sources: Literature
Fatty Acid Oxidation Defects v1.0 Zornitza Stark promoted panel to version 1.0
Fatty Acid Oxidation Defects v0.81 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Fatty Acid Oxidation Defects v0.81 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.81 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease, MIM# 300438 to HSD10 mitochondrial disease, MIM# 300438
Fatty Acid Oxidation Defects v0.80 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438
Fatty Acid Oxidation Defects v0.79 HSD17B10 Zornitza Stark Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fatty Acid Oxidation Defects v0.78 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fatty Acid Oxidation Defects v0.78 HMGCS2 Zornitza Stark Marked gene: HMGCS2 as ready
Fatty Acid Oxidation Defects v0.78 HMGCS2 Zornitza Stark Gene: hmgcs2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.78 HMGCS2 Zornitza Stark Phenotypes for gene: HMGCS2 were changed from to HMG-CoA synthase-2 deficiency, MIM# 605911
Fatty Acid Oxidation Defects v0.77 HMGCS2 Zornitza Stark Publications for gene: HMGCS2 were set to
Fatty Acid Oxidation Defects v0.76 HMGCS2 Zornitza Stark Mode of inheritance for gene: HMGCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.75 HMGCS2 Zornitza Stark reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33045405; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Tag SV/CNV tag was added to gene: HMGCL.
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, MIM# 246450 to HMG-CoA lyase deficiency, MIM# 246450
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450
Fatty Acid Oxidation Defects v0.74 HMGCL Zornitza Stark Publications for gene: HMGCL were set to
Fatty Acid Oxidation Defects v0.73 HMGCL Zornitza Stark Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.72 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8617516; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark changed review comment from: The HADHA (600890) and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity.

Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Peripheral neuropathy also reported.

Well established gene-disease association.; to: The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity.

Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Peripheral neuropathy also reported.

Well established gene-disease association.
Fatty Acid Oxidation Defects v0.72 HADHA Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy.
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark Marked gene: HADHB as ready
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM# 609015
Fatty Acid Oxidation Defects v0.71 HADHB Zornitza Stark Publications for gene: HADHB were set to
Fatty Acid Oxidation Defects v0.70 HADHB Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.69 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30682426, 28515471; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.69 HADHA Zornitza Stark Marked gene: HADHA as ready
Fatty Acid Oxidation Defects v0.69 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.69 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016
Fatty Acid Oxidation Defects v0.68 HADHA Zornitza Stark Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.67 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.67 HADH Zornitza Stark Marked gene: HADH as ready
Fatty Acid Oxidation Defects v0.67 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.67 HADH Zornitza Stark Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency, MONDO:0009278
Fatty Acid Oxidation Defects v0.66 HADH Zornitza Stark Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency
Fatty Acid Oxidation Defects v0.65 HADH Zornitza Stark Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.64 HADH Zornitza Stark reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.64 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Fatty Acid Oxidation Defects v0.64 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.64 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from to VLCAD deficiency, MIM# 201475
Fatty Acid Oxidation Defects v0.63 ACADVL Zornitza Stark Mode of inheritance for gene: ACADVL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.62 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.62 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Fatty Acid Oxidation Defects v0.62 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.62 GLUD1 Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Fatty Acid Oxidation Defects v0.61 GLUD1 Zornitza Stark Publications for gene: GLUD1 were set to
Fatty Acid Oxidation Defects v0.60 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.59 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11214910, 11297618; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM# 606762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.59 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Fatty Acid Oxidation Defects v0.59 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.59 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM# 231680
Fatty Acid Oxidation Defects v0.58 ETFDH Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.57 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.57 ETFB Zornitza Stark Marked gene: ETFB as ready
Fatty Acid Oxidation Defects v0.57 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.57 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM# 231680
Fatty Acid Oxidation Defects v0.56 ETFB Zornitza Stark Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.55 ETFB Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark commented on gene: ETFA: Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark Marked gene: ETFA as ready
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM# 231680
Fatty Acid Oxidation Defects v0.54 ETFA Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.53 ETFA Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.53 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Fatty Acid Oxidation Defects v0.53 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.53 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Fatty Acid Oxidation Defects v0.52 CPT2 Zornitza Stark Mode of inheritance for gene: CPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.51 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.51 CPT1A Zornitza Stark Marked gene: CPT1A as ready
Fatty Acid Oxidation Defects v0.51 CPT1A Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.51 CPT1A Zornitza Stark Phenotypes for gene: CPT1A were changed from to CPT deficiency, hepatic, type IA, MIM# 255120
Fatty Acid Oxidation Defects v0.50 CPT1A Zornitza Stark Publications for gene: CPT1A were set to
Fatty Acid Oxidation Defects v0.49 CPT1A Zornitza Stark Mode of inheritance for gene: CPT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.48 CPT1A Zornitza Stark reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.48 LPIN1 Zornitza Stark Marked gene: LPIN1 as ready
Fatty Acid Oxidation Defects v0.48 LPIN1 Zornitza Stark Gene: lpin1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.48 LPIN1 Zornitza Stark Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200
Fatty Acid Oxidation Defects v0.47 LPIN1 Zornitza Stark Publications for gene: LPIN1 were set to
Fatty Acid Oxidation Defects v0.46 LPIN1 Zornitza Stark Mode of inheritance for gene: LPIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.45 LPIN1 Zornitza Stark reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891, 32522502, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.45 TAZ Zornitza Stark Marked gene: TAZ as ready
Fatty Acid Oxidation Defects v0.45 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.45 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Fatty Acid Oxidation Defects v0.44 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fatty Acid Oxidation Defects v0.43 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Fatty Acid Oxidation Defects v0.43 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.43 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Fatty Acid Oxidation Defects v0.42 MLYCD Zornitza Stark Publications for gene: MLYCD were set to
Fatty Acid Oxidation Defects v0.41 MLYCD Zornitza Stark Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.40 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.40 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Fatty Acid Oxidation Defects v0.40 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.40 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM# 212138
Fatty Acid Oxidation Defects v0.39 SLC25A20 Zornitza Stark Publications for gene: SLC25A20 were set to
Fatty Acid Oxidation Defects v0.38 SLC25A20 Zornitza Stark Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.37 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15363639, 15365988, 24088670; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.36 TAZ Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Classified gene: ACADSB as Green List (high evidence)
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Classified gene: SLC52A3 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.33 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Review for gene: SLC52A3 was set to GREEN
Added comment: Definitive by ClinGen.
Sources: Expert list
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.31 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Review for gene: SLC52A2 was set to GREEN
Added comment: Definitive by ClinGen.
Sources: Expert list
Fatty Acid Oxidation Defects v0.30 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Fatty Acid Oxidation Defects v0.30 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.30 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM# 212140
Fatty Acid Oxidation Defects v0.29 SLC22A5 Zornitza Stark Mode of inheritance for gene: SLC22A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.28 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Marked gene: PPARG as ready
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Classified gene: PPARG as Red List (low evidence)
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.27 PPARG Zornitza Stark reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fatty Acid Oxidation Defects v0.27 OXCT1 Zornitza Stark Marked gene: OXCT1 as ready
Fatty Acid Oxidation Defects v0.27 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.27 OXCT1 Zornitza Stark Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565
Fatty Acid Oxidation Defects v0.26 OXCT1 Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11757586, 8844009; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.26 NADK2 Zornitza Stark Classified gene: NADK2 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.26 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark changed review comment from: Two families reported, rated as 'moderate' by ClinGen.
Sources: Expert list; to: At least three families reported, rated as 'moderate' by ClinGen but only two families considered at time of assessment.
Sources: Expert list
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark edited their review of gene: NADK2: Changed rating: GREEN; Changed publications: 24847004, 27940755, 23212377, 28923496, 29388319; Changed phenotypes: 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark Marked gene: NADK2 as ready
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark Gene: nadk2 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496
Fatty Acid Oxidation Defects v0.24 NADK2 Zornitza Stark Classified gene: NADK2 as Amber List (moderate evidence)
Fatty Acid Oxidation Defects v0.24 NADK2 Zornitza Stark Gene: nadk2 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.23 NADK2 Zornitza Stark gene: NADK2 was added
gene: NADK2 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Review for gene: NADK2 was set to AMBER
Added comment: Two families reported, rated as 'moderate' by ClinGen.
Sources: Expert list
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Classified gene: FLAD1 as Amber List (moderate evidence)
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.21 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLAD1 were set to 25058219; 27259049; 16643857; 20060505
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
Review for gene: FLAD1 was set to AMBER
Added comment: Classified as moderate by ClinGen. The classification for FLAD1 was based on eight cases from the literature harbouring mostly frameshift variants in exons 1 or 2, biochemical studies and in vitro studies. Many of the frameshift variants in FLAD1 were predicted to be loss-of-function. However, Olsen et al. noted that homozygous loss-of-function variants in FLAD1 would be unlikely as FLAD1 encodes the only known enzyme to catalyze the synthesis of flavin adenine dinucleotide (FAD) from flavin mononucleotide (FMN), an essential metabolic process. This led the authors to discover previously unknown isoforms that were residually expressed in these patients. Therefore, ClinGen downgraded points for each of these variants to the default points for non-loss-of-function variants, resulting in the 'Moderate' assessment.
Sources: Expert list
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.19 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 31399326; 25125611; 25393721
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: Assessed as Definitive by the ClinGen FAOD working group.
Sources: Expert list
Fatty Acid Oxidation Defects v0.18 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Fatty Acid Oxidation Defects v0.18 ACAT1 Zornitza Stark Added comment: Comment when marking as ready: Definitive by ClinGen.
Fatty Acid Oxidation Defects v0.18 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.18 ACADS Zornitza Stark Marked gene: ACADS as ready
Fatty Acid Oxidation Defects v0.18 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.18 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Fatty Acid Oxidation Defects v0.17 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.16 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
Fatty Acid Oxidation Defects v0.16 ACADM Zornitza Stark Marked gene: ACADM as ready
Fatty Acid Oxidation Defects v0.16 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.16 ACADM Zornitza Stark Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Fatty Acid Oxidation Defects v0.15 ACADM Zornitza Stark Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.14 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Tag disputed tag was added to gene: ACADL.
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Marked gene: ACADL as ready
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction
Fatty Acid Oxidation Defects v0.13 ACADL Zornitza Stark Publications for gene: ACADL were set to
Fatty Acid Oxidation Defects v0.12 ACADL Zornitza Stark Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.11 ACADL Zornitza Stark Classified gene: ACADL as Red List (low evidence)
Fatty Acid Oxidation Defects v0.11 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.10 ACADL Zornitza Stark reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: 24591516, 31399326; Phenotypes: Pulmonary surfactant dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.10 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Fatty Acid Oxidation Defects v0.10 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.10 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Fatty Acid Oxidation Defects v0.9 ACAD9 Zornitza Stark Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.8 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.8 Bryony Thompson Panel name changed from Fatty Oxidation Defects to Fatty Acid Oxidation Defects
Fatty Acid Oxidation Defects v0.7 ACADSB Bryony Thompson gene: ACADSB was added
gene: ACADSB was added to Fatty Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADSB were set to 11013134; 17945527; 30730842
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006
Review for gene: ACADSB was set to GREEN
Added comment: The enzyme catalyses the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. SBCAD deficiency is symptomatic in about 10% of reported patients.
Sources: Expert list
Fatty Acid Oxidation Defects v0.6 OXCT1 Bryony Thompson Classified gene: OXCT1 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.6 OXCT1 Bryony Thompson Gene: oxct1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.5 OXCT1 Bryony Thompson gene: OXCT1 was added
gene: OXCT1 was added to Fatty Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Review for gene: OXCT1 was set to GREEN
Added comment: The enzyme catalyses the first step of ketone body utilization, ketone bodies are produced predominantly in the liver from fatty acid oxidation-derived acetyl-coenzyme A (CoA), and they are transported to extrahepatic tissues for terminal oxidation. At least 4 cases reported with the condition.
Sources: Expert list
Fatty Acid Oxidation Defects v0.4 ACAT1 Bryony Thompson Classified gene: ACAT1 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.4 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.3 ACAT1 Bryony Thompson gene: ACAT1 was added
gene: ACAT1 was added to Fatty Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 17236799; 1715688
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase
Review for gene: ACAT1 was set to GREEN
Added comment: Is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Biallelic variants have been identified in at least 7 families.
Sources: Expert list
Fatty Acid Oxidation Defects v0.2 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Fatty Acid Oxidation Defects v0.1 Zornitza Stark Panel name changed from Fatty Oxidation Defects_VCGS to Fatty Oxidation Defects
Panel types changed to Victorian Clinical Genetics Services
Fatty Acid Oxidation Defects v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAZ was set to Unknown
Fatty Acid Oxidation Defects v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A20 was set to Unknown
Fatty Acid Oxidation Defects v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC22A5 was set to Unknown
Fatty Acid Oxidation Defects v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPARG was set to Unknown
Fatty Acid Oxidation Defects v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MLYCD was set to Unknown
Fatty Acid Oxidation Defects v0.0 LPIN1 Zornitza Stark gene: LPIN1 was added
gene: LPIN1 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LPIN1 was set to Unknown
Fatty Acid Oxidation Defects v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD17B10 was set to Unknown
Fatty Acid Oxidation Defects v0.0 HMGCS2 Zornitza Stark gene: HMGCS2 was added
gene: HMGCS2 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HMGCS2 was set to Unknown
Fatty Acid Oxidation Defects v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HMGCL was set to Unknown
Fatty Acid Oxidation Defects v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HADHB was set to Unknown
Fatty Acid Oxidation Defects v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HADHA was set to Unknown
Fatty Acid Oxidation Defects v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HADH was set to Unknown
Fatty Acid Oxidation Defects v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLUD1 was set to Unknown
Fatty Acid Oxidation Defects v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ETFDH was set to Unknown
Fatty Acid Oxidation Defects v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ETFB was set to Unknown
Fatty Acid Oxidation Defects v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ETFA was set to Unknown
Fatty Acid Oxidation Defects v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPT2 was set to Unknown
Fatty Acid Oxidation Defects v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPT1A was set to Unknown
Fatty Acid Oxidation Defects v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACADVL was set to Unknown
Fatty Acid Oxidation Defects v0.0 ACADS Zornitza Stark gene: ACADS was added
gene: ACADS was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACADS was set to Unknown
Fatty Acid Oxidation Defects v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACADM was set to Unknown
Fatty Acid Oxidation Defects v0.0 ACADL Zornitza Stark gene: ACADL was added
gene: ACADL was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACADL was set to Unknown
Fatty Acid Oxidation Defects v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACAD9 was set to Unknown
Fatty Acid Oxidation Defects v0.0 Zornitza Stark Added panel Fatty Oxidation Defects_VCGS