PanelApp (staging)
  1. Panels
  2. Fatty Acid Oxidation Defects
Description
Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.

This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.

It incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.
Panel Activity

3 reviewers

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

33 Entities

33 reviewed, 29 green

List Entity Reviews Mode of inheritance Details
33 Entitiess
Green Green List (high evidence)
ACAD9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Tags
  • treatable
Green Green List (high evidence)
ACADM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Tags
  • treatable
Green Green List (high evidence)
ACADSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 2-methylbutyrylglycinuria MIM#610006
Tags
Green Green List (high evidence)
ACADVL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • VLCAD deficiency, MIM# 201475
Tags
  • treatable
Green Green List (high evidence)
ACAT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750
  • Deficiency of acetyl-CoA acetyltransferase
  • Beta-ketothiolase deficiency MONDO:0008760
Tags
  • treatable
Green Green List (high evidence)
CPT1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT deficiency, hepatic, type IA, MIM# 255120
Tags
  • treatable
Green Green List (high evidence)
CPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT II deficiency, infantile 600649
  • CPT II deficiency, lethal neonatal 608836
  • CPT II deficiency, myopathic, stress-induced 255110
Tags
  • treatable
Green Green List (high evidence)
ECHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Tags
Green Green List (high evidence)
ETFA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutaric acidemia IIA, MIM# 231680
Tags
  • treatable
Green Green List (high evidence)
ETFB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutaric acidemia IIB, MIM# 231680
Tags
  • treatable
Green Green List (high evidence)
ETFDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutaric acidemia IIC, MIM# 231680
Tags
  • treatable
Green Green List (high evidence)
ETHE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ethylmalonic encephalopathy, MIM# 602473
Tags
  • treatable
Green Green List (high evidence)
FLAD1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
Tags
Green Green List (high evidence)
GLUD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Tags
Green Green List (high evidence)
HADH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
  • Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
  • SCHAD deficiency, MONDO:0009278
Tags
Green Green List (high evidence)
HADHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • LCHAD deficiency, MIM# 609016
Tags
  • treatable
Green Green List (high evidence)
HADHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trifunctional protein deficiency, MIM# 609015
Tags
  • treatable
Green Green List (high evidence)
HMGCL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • HMG-CoA lyase deficiency, MIM# 246450
Tags
  • SV/CNV
  • treatable
Green Green List (high evidence)
HMGCS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • HMG-CoA synthase-2 deficiency, MIM# 605911
Tags
Green Green List (high evidence)
HSD17B10
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • HSD10 mitochondrial disease, MIM# 300438
Tags
Green Green List (high evidence)
LPIN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200
Tags
Green Green List (high evidence)
MLYCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Malonyl-CoA decarboxylase deficiency, MIM# 248360
Tags
  • treatable
Green Green List (high evidence)
NADK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Tags
Green Green List (high evidence)
OXCT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Tags
Green Green List (high evidence)
SLC22A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine deficiency, systemic primary, MIM# 212140
Tags
  • treatable
Green Green List (high evidence)
SLC25A20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency, MIM# 212138
Tags
  • treatable
Green Green List (high evidence)
SLC52A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Tags
Green Green List (high evidence)
SLC52A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Tags
Green Green List (high evidence)
TAZ
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Barth syndrome, MIM# 302060
Tags
Amber Amber List (moderate evidence)
ACADS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
  • MONDO:0008722
Tags
Red Red List (low evidence)
ACADL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary surfactant dysfunction
Tags
  • disputed
Red Red List (low evidence)
ACSL5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Diarrhoea 13, MIM# 620357
Tags
Red Red List (low evidence)
PPARG
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags

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