Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 8, 614096
- infantile mitochondrial cardiomyopathy
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperlysinemia, OMIM:238700
- Hyperlysinemia (disease), MONDO:0009388
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate)
- mtDNA depletion syndrome
- 613163
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Tangier disease (Disorders of high density lipoprotein metabolism)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport)
- Cholestasis, benign recurrent intrahepatic, 2 605479
- Cholestasis, progressive familial intrahepatic 2 601847
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport)
- Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
- Cholestasis, progressive familial intrahepatic 3 602347 AR
- Gallbladder disease 1 600803 AD, AR
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of iron homeostasis
- Anemia, sideroblastic, with ataxia
- congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
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
-
Literature
Phenotypes
- X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation)
- Adrenoleukodystrophy 300100
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblJ type 614857
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Sitosterolaemia (Inherited hypercholesterolaemias)
- Familial hypercholesterolaemia
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Sitosterolaemia (Inherited hypercholesterolaemias)
- Familial hypercholesterolaemia
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- PHARC syndrome (Disorders of complex lipid synthesis)
- Congenital hearing impairment (profound/severe)
- Hereditary ataxia
- Posterior segment abnormalities
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Neutral lipid storage disease (Disorders of lipolysis)
- Chanarin-Dorfman syndrome 275630
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Isobutyric aciduria (Organic acidurias)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
- ACAD9 deficiency, 611126
- Mitochondrial complex I deficiency due to ACAD9 deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
- Acyl-CoA dehydrogenase, medium chain, deficiency of
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 2-Methylbutyric aciduria (Organic acidurias)
- 2-methylbutyrylglycinuria 610006
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
- VLCAD deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 3-Oxothiolase deficiency (Organic acidurias)
- Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism)
- Fasting intolerance with acidosis, ? residual neurological problems
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Infantile cerebellar-retinal degeneration, 614559
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Combined methylmalonic and malonic aciduria (Organic acidurias)
- Combined malonic and methylmalonic aciduria 614265
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Aminoacylase 1 deficiency (Organic acidurias)
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Adenosine deaminase deficiency (Disorders of purine metabolism)
- Combined B and T cell defect
- Infantile enterocolitis & monogenic inflammatory bowel disease
- SCID
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Aicardi-Goutieres syndrome 6, OMIM:615010
- Dyschromatosis symmetrica hereditaria, OMIM:127400
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Adenylosuccinate lyase deficiency (Disorders of purine metabolism)
- Epileptic encephalopathy
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Optic atrophy 12, OMIM:618977
- Spinocerebellar ataxia 28, OMIM:610246
- Spastic ataxia 5, autosomal recessive, OMIM:614487
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Aspartylglucosaminuria 208400
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis)
- Sengers syndrome, 212350
- Mitochondrial DNA depletion syndrome 10
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Disorders of mitochondrial lipid metabolism
- Cataract 38, autosomal recessive, 614691
- Sengers syndrome 212350
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease type III, Cori (Glycogen storage disorders)
- myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
- Glycogen storage disease IIIa, 232400
- Glycogen storage disease IIIb, 232400
- Glycogen Storage Disease Type III
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
- Rhizomelic chondrodysplasia punctata, type 3 600121
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Primary hyperoxaluria type I (Disorders of glyoxylate metabolism)
- Primary hyperoxaluria type I (Other peroxisomal disorders)
- Hyperoxaluria, primary, type 1
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
- Disorders of the metabolism of sulphur amino acids
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of mitochondrial apoptosis
- Combined oxidative phosphorylation deficiency 6, 300816
- Cowchock syndrome, 310490
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis)
- Bile acid synthesis defect, congenital, 2 235555
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Acute hepatic porphyria (Acute neuropathic porphyrias)
- Porphyria, acute hepatic 612740
- {Lead poisoning, susceptibility to} 612740
Tags
|
Green
Green List (high evidence)
|
|
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
-
Literature
Phenotypes
- Anemia, sideroblastic, 1, OMIM:300751
- Protoporphyria, erythropoietic, X-linked, OMIM:300752
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cutis laxa, autosomal dominant 3 OMIM:616603
- cutis laxa, autosomal dominant 3 MONDO:0014706
- Cutis laxa, autosomal recessive, type IIIA OMIM:219150
- ALDH18A1-related de Barsy syndrome MONDO:0009053
- Spastic paraplegia 9A, autosomal dominant OMIM:601162
- hereditary spastic paraplegia 9A MONDO:0011006
- Spastic paraplegia 9B, autosomal recessive OMIM:616586
- autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Sjogren-Larsson syndrome, OMIM:270200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperprolinaemia type II (Disorders of ornithine or proline metabolism)
- Intellectual disability
- Hyperprolinemia, type II 239510
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Succinic semialdehyde dehydrogenase deficiency 271980
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 3-Hydroxyisobutyric aciduria (Organic acidurias)
- Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
- Methylmalonate semialdehyde dehydrogenase deficiency 614105
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Epilepsy, pyridoxine-dependent 266100
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Aldolase A deficiency (Glycogen storage disorders)
- Glycogen storage disease XII, 611881
- Glycogen Storage Disease
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hereditary fructose intolerance (Disorders of fructose metabolism)
- acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
- hereditary fructose intolerance
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ik 608540
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ALG11-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ip 613661
- ALG11-CDG (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ig 607143
- Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
- ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation)
- ALG3-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Id 601110
- Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ic 603147
- Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ih 608104
- Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
- ALG9-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Il 608776
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypophosphatasia, adult 146300
- Hypophosphatasia, childhood 241510
- Hypophosphatasia, infantile 241500
- Odontohypophosphatasia 146300
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
- Alpha-methylacyl-CoA racemase deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism)
- Proteinuric renal disease
- Unexplained kidney failure in young people
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glycine encephalopathy 605899
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Amyloidosis, 3 or more types OMIM:105200
- familial visceral amyloidosis MONDO:0007099
- ApoA-I and apoC-III deficiency, combined OMIM:618463
- Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463
- hypoalphalipoproteinemia, primary, 2 MONDO:0032766
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyperchylomicronemia, late-onset OMIM:144650
- hyperlipoproteinemia type V MONDO:0007762
- {Hypertriglyceridemia, susceptibility to} OMIM:145750
- hypertriglyceridemia, familial MONDO:0007788
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypercholesterolemia, familial, 2 OMIM:144010
- hypercholesterolemia, autosomal dominant, type B MONDO:0007751
- Hypobetalipoproteinemia OMIM:615558
- familial hypobetalipoproteinemia 1 MONDO:0014252
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
- Hyperlipoproteinemia, type Ib 207750
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias)
- Hyperlipoproteinemia, type III 617347
- Lipoprotein glomerulopathy 611771
- Sea-blue histiocyte disease 269600
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
- Isolated complex IV deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
- Adenine phosphoribosyltransferase deficiency 614723
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
- Ataxia with oculomotor apraxia 1
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Argininaemia (Urea cycle disorders and inherited hyperammonaemias)
- Argininemia, OMIM:207800
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Metachromatic leukodystrophy 250100
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
- Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
- Mucopolysaccharidosis, Type VI
- Mucopolysaccharidosis Type VI
- MUCOPOLYSACCHARIDOSIS TYPE 6
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
- Chondrodysplasia punctata, X-linked recessive 302950
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Spinal muscular atrophy with progressive myoclonic epilepsy 159950
- Farber lipogranulomatosis 228000
- Fetal hydrops
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias)
- Argininosuccinic aciduria
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias)
- Citrullinemia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Harel-Yoon syndrome, OMIM:617183
- Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
- Lactic acidosis
- Methylglutaconic aciduria
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- AICAR transformylase deficiency (Disorders of purine metabolism)
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Kufor-Rakeb syndrome 606693
- Spastic paraplegia 78, autosomal recessive 617225
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 22, OMIM: 616045
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053
- mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
- Cutis laxa, autosomal recessive, type IIA 21920
- Wrinkly skin syndrome 278250
- V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Menkes disease 309400
- Occipital horn syndrome 304150
- Spinal muscular atrophy, distal, X-linked 3 300489
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Byler disease (Disorders of bile acid metabolism and transport)
- Cholestasis, benign recurrent intrahepatic 243300 AR
- Cholestasis, intrahepatic, of pregnancy, 1 147480 AD
- Cholestasis, progressive familial intrahepatic 1 211600
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex V deficiency
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
- Mitochondrial Diseases
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Methylglutaconic aciduria type I (Organic acidurias)
- 3-methylglutaconic aciduria, type I
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Ehlers-Danlos syndrome, progeroid type, 2
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
- B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Peters-plus syndrome 261540
- O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital disorder of glycosylation, type IId, OMIM:607091
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
- B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Ehlers-Danlos syndrome with short stature and limb anomalies 130070
- B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypercholanemia, familial 607748
- Bile acid amidation defect (Disorders of bile acid biosynthesis)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
- Maple syrup urine disease, type Ia
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
- Maple syrup urine disease, type Ib
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Branched-chain ketoacid dehydrogenase kinase deficiency 614923
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex III deficiency
- Mitochondrial complex III deficiency, nuclear type 1, 124000
- Leigh syndrome, 256000
- Bjornstad syndrome, 262000
- GRACILE syndrome, 603358
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex III Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of iron homeostasis
- Multiple mitochondrial dysfunctions syndrome 2, 614299
- Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
- Multiple Mitochondrial Dysfunctions Syndrome
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Biotinidase deficiency (Disorders of biotin metabolism)
- lactic acidosis with seizures and eczema,immune deficiency
- Biotinidase deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 7, OMIM:613559
- Spastic paraplegia 55, autosomal recessive, OMIM:615035
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
- Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
- Hyperammonemia due to carbonic anhydrase VA deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Acatalasaemia (Other peroxisomal disorders)
- Acatalasemia, 614097
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Homocystinuria, B6-responsive and nonresponsive types 236200
- Thrombosis, hyperhomocysteinemic 236200
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Congenital disorder of glycosylation, type IIo 616828
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- Spinal muscular atrophy, Jokela type
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Choline kinase deficiency (Disorders of complex lipid synthesis)
- Muscular dystrophy, congenital, megaconial type, 602541
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Ehlers-Danlos syndrome, musculocontractural type 1 601776
- CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Spondyloepiphyseal dysplasia with congenital joint dislocations 143095
- CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Macular corneal dystrophy 217800
- CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Temtamy preaxial brachydactyly syndrome 605282
- CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Wolfram syndrome 2 604928
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypomagnesemia 3, renal 248250
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypomagnesemia 5, renal, with ocular involvement 248190
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Ceroid lipofuscinosis, neuronal, 3 204200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
- neuronal ceroid lipofuscinosis 5 MONDO:0009745
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Ceroid lipofuscinosis, neuronal, 6 601780
- Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Ceroid lipofuscinosis, neuronal, 8 600143
- Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271
- 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835
- Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Perrault syndrome 3, 614129
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism)
- Hypomagnesemia 6, renal 613882
- Hypomagnesemia, seizures, and mental retardation 616418
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Congenital disorder of glycosylation, type IIg 611209
- Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Congenital disorder of glycosylation, type IIj 613489
- Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Congenital disorder of glycosylation, type IIi 613612
- Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Congenital disorder of glycosylation, type IIl 614576
- Shaheen syndrome 615328
- Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Congenital disorder of glycosylation, type IIe 608779
- Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Congenital disorder of glycosylation, type IIh 611182
- Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Steroid-resistant nephrotic syndrome
- Disorders of ubiquinone metabolism and biosynthesis
- Coenzyme Q10 deficiency, primary, 6, 614650
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ?Coenzyme Q10 deficiency, primary, 8 616733
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
- Coenzyme Q10 deficiency, primary, 4, 612016
- Coenzyme Q10 deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Nephrotic syndrome, type 9
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
- Coenzyme Q10 deficiency, primary, 5, 614654
- Coenzyme Q10 deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
- Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex IV deficiency
- Mitochondrial complex IV deficiency, 220110
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex IV deficiency
- Mitochondrial complex IV deficiency, 220110
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
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
-
Literature
Phenotypes
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex IV deficiency
- Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
- MICROPHTHALMIA WITH LINEAR SKIN LESIONS
- Linear skin defects with multiple congenital anomalies
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cerebellar ataxia 604290
- Hemosiderosis, systemic, due to aceruloplasminemia 604290
- [Hypoceruloplasminemia, hereditary] 604290
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hereditary coproporphyria (Acute neuropathic porphyrias)
- Coproporphyria 121300
- Harderoporphyria 121300
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
- Carbamoylphosphate synthetase I deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle)
- CPT deficiency, hepatic, type IA
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
- CPT II deficiency, myopathic, stress-induced, OMIM:255110
- Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Cystathioninuria 219500 AR
- Homocysteine, total plasma, elevated
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Cystinosis, atypical nephropathic 219800
- Cystinosis, late-onset juvenile or adolescent nephropathic 219900
- Cystinosis, nephropathic 219800
- Cystinosis, ocular nonnephropathic 219750
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Haim-Munk syndrome 245010
- Papillon-Lefevre syndrome 245000
- Periodontitis 1, juvenile 170650
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Ceroid lipofuscinosis, neuronal, 10 610127
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
- Proteinuric renal disease
- Unexplained kidney failure in young people
- Megaloblastic anemia-1, Finnish type 261100
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Isolated complex III deficiency
- Mitochondrial complex III deficiency, nuclear type 6, 615453
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Cerebrotendinous xanthomatosis 213700
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bile acid synthesis defect, congenital, 3 613812
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- D-2-hydroxyglutaric aciduria 600721
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Dopamine beta-hydroxylase deficiency 223360 AR
- [Dopamine-beta-hydroxylase activity levels, plasma]
- Dopamine beta-hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
- Maple syrup urine disease, type II
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
- Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Deoxyguanosine kinase deficiency (Disorders of purine metabolism)
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Mitochondrial DNA Depletion Syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
- Cataracts
- Disorders of sex development
- Intellectual disability
- IUGR and IGF abnormalities
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport)
- Megaloblastic anemia due to dihydrofolate reductase deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
- 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
- 2-aminoadipic and 2-oxoadipic aciduria, 204750
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism)
- Pyruvate dehydrogenase E2 deficiency, 245348
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism)
- Dihydrolipoamide dehydrogenase deficiency, 246900
- Leigh syndrome
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Disorders of mitochondrial DNA maintenance and integrity
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
- 615156
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- 3-methylglutaconic aciduria, type V 610198
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
- Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Centronuclear myopathy 1 160150
- Charcot-Marie-Tooth disease, axonal type 2M 606482
- Charcot-Marie-Tooth disease, dominant intermediate B 606482
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
- Congenital disorder of glycosylation, type Im 610768
- Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ij 608093
- Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
- UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital disorder of glycosylation, type Ie, OMIM:608799
- GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital disorder of glycosylation, type Iu 615042
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
- Dihydropyrimidine dehydrogenase deficiency 274270
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Dihydropyrimidinuria, OMIM:222748
- Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Dyggve-Melchior-Clausen disease, 223800
- Smith-McCort dysplasia, 607326
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 12, 614924
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Literature
Phenotypes
- X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
- Chondrodysplasia punctata, X-linked dominant 302960 XLD
- MEND syndrome 300960 XLR
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 17, 615440
- infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
UKGTN
Phenotypes
- ?Glycogen storage disease XIII 612932
- Rhabdomyolysis and metabolic muscle disorders
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
Phenotypes
- Vici syndrome, 242840
- IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glutaric acidemia IIA, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
- Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Glutaric acidemia IIC
- Disorders of ubiquinone metabolism and biosynthesis
- GLUTARIC ACIDURIA TYPE 2C
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex IV deficiency
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Ethylmalonic encephalopathy, 602473
- Ethylmalonic encephalopathy
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
- Exostoses, multiple, type 1 133700
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
- ?Seizures, scoliosis, and macrocephaly syndrome 616682
- Exostoses, multiple, type 2 133701
- Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis)
- Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
- Early onset dystonia
- Hereditary spastic paraplegia
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Tyrosinemia, type I 276700
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 14, 614946
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 44, OMIM:618855
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
- fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900
- mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Protoporphyria, erythropoietic, 1 177000
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
- Apert syndrome 101200
- Beare-Stevenson cutis gyrata syndrome 123790
- Bent bone dysplasia syndrome 614592
- Craniofacial-skeletal-dermatologic dysplasia 101600
- Craniosynostosis, nonspecific
- Crouzon syndrome 123500
- Gastric cancer, somatic 613659
- Jackson-Weiss syndrome 123150
- LADD syndrome 149730
- Pfeiffer syndrome 101600
- Saethre-Chotzen syndrome 101400
- Scaphocephaly and Axenfeld-Rieger anomaly
- Scaphocephaly, maxillary retrusion, and mental retardation 609579
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Fumarase deficiency, OMIM:606812
- Disorders of the citric acid cycle
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
- Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
- Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Trimethylaminuria, 602079
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
- Neurodegeneration due to cerebral folate transport deficiency, 613068
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
- Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glutamate formiminotransferase deficiency 229100
Tags
- ngs-false-positive-region
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation with defective fucosylation, 618005
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Friedreich ataxia, OMIM:229300
- Friedreich ataxia with retained reflexes, OMIM:229300
Tags
- nucleotide-repeat-expansion
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease Ia, OMIM:232200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Dursun syndrome 612541
- Neutropenia, severe congenital 4, autosomal recessive 612541
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Glycogen storage disease II 232300
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Epilepsy, generalized, with febrile seizures plus, type 3 611277
- Febrile seizures, familial, 8 611277
- {Epilepsy, childhood absence, susceptibility to, 2} 607681
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Krabbe disease, OMIM:245200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Galactokinase deficiency with cataracts 230200
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS IVA, Morquio A disease (MPS IV, Morquio disease)
- Mucopolysaccharidosis IVA, 253000
- Mucopolysaccharidosis, Type IV
- Mucopolysaccharidosis Type IVA
- MUCOPOLYSACCHARIDOSIS TYPE 4A
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
- Tumoral calcinosis, hyperphosphatemic, familial 211900
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Classical galactosaemia (Disorders of galactose metabolism)
- Cataracts
- Intellectual disability
- Galactosemia 230400
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Charcot-Marie-Tooth disease, type 2D
- Neuropathy, distal hereditary motor, type VA
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cerebral creatine deficiency syndrome 3, OMIM:612718
- Arginine:glycine amidinotransferase deficiency
- Mitochondrial respiratory chain disorders (caused by nuclear variants only)
- Disorders of creatinine metabolism
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Gaucher disease (Sphingolipidoses)
- Gaucher disease
- Gaucher disease, type I, 230800
- Gaucher disease, type II, 230900
- Gaucher disease, type III, 231000
- Gaucher disease, type IIIC, 231005
- Gaucher disease, perinatal lethal, 608013
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease IV, OMIM:232500
- Polyglucosan body disease, adult form, OMIM:263570
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glutaricaciduria, type I 231670
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
- Hyperphenylalaninemia, BH4-deficient, B 233910
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle)
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831
- Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706
- Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340
- Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Disorders of the mitochondrial import system
- Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 1, 609060
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
- Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Intrinsic factor deficiency 261000
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycerol kinase deficiency 307030
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
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
-
Literature
Phenotypes
- Fabry disease (Sphingolipidoses)
- Fabry disease, 301500
- Fabry disease, cardiac variant, 301500
- Fabry Disease
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS IVB, Morquio B disease (MPS IV, Morquio disease)
- GM1-gangliosidosis (Sphingolipidoses)
- GM1-gangliosidosis, type I, 230500
- GM1-gangliosidosis, type II, 230600
- GM1-gangliosidosis, type III, 230650
- Mucopolysaccharidosis type IVB (Morquio), 253010
- Mucopolysaccharidosis, Type IV
- Mucopolysaccharidosis Type IVB
- MUCOPOLYSACCHARIDOSIS TYPE 4B
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glycine encephalopathy 605899
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperekplexia, hereditary 1, 149400
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of iron homeostasis
- Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
- Hyperinsulinism-hyperammonemia syndrome, 606762
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glutamine deficiency, congenital 610015
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism)
- D-glyceric aciduria 220120
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- GM2-gangliosidosis, AB variant 272750
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351
- muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
- autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Sialuria OMIM:269921
- sialuria MONDO:0010028
- Nonaka myopathy OMIM:605820
- GNE myopathy MONDO:0011603
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glycine N-methyltransferase deficiency 606664
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders)
- Rhizomelic chondrodysplasia punctata, type 2 222765
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mucolipidosis II, I-cell disease (Other lysosomal disorders)
- Mucolipidosis, Type II
- Mucolipidosis, Type III Alpha/Beta
- Mucolipidosis II alpha/beta
- Mucolipidosis III alpha/beta
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders)
- Mucolipidosis, Type III Gamma
- Mucolipidosis III gamma
- mucolipidpsis type III complementation group C
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis type IIID, 252940
- Mucopolysaccharidosis, Type III
- Mucopolysaccharidosis Type IIID
- Mucopolysaccharidosis Type III
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypertriglyceridemia, transient infantile, 614480
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Molybdenum cofactor deficiency C, OMIM:615501
- Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Primary hyperoxaluria type II (Disorders of glyoxylate metabolism)
- Hyperoxaluria, primary, type II
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle)
- Glutathione synthetase deficiency with 5-oxoprolinuria
- Glutathione synthetase deficiency without 5-oxoprolinuria
- Glutathione synthetase (GSS) deficiency
- Pyroglutamic aciduria
- 5-oxoprolinuria
- Fanconi nephropathy
- Glutathione synthetase deficiency 266130
- Hemolytic anemia due to glutathione synthetase deficiency 231900
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy
- Combined oxidative phosphorylation deficiency 23
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS VII, Sly disease (MPS IV, Morquio disease)
- Mucopolysaccharidosis VII, 253220
- Mucopolysaccharidosis, Type VII
- Mucopolysaccharidosis Type VII
- MUCOPOLYSACCHARIDOSIS TYPE 7
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- ?Glycogen storage disease XV 613507
- Polyglucosan body myopathy 2 616199
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glycogen storage disease 0, muscle 611556
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease type 0a, liver (Glycogen storage disorders)
- fasting intolerance without enlarged liver
- Glycogen storage disease, type 0, 240600
- Glycogen Storage Disease Type 0, Liver
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Multiple congenital malformations
- VACTERL-like phenotype
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 3-hydroxyacyl-CoA dehydrogenase deficiency 231530
- Hyperinsulinemic hypoglycemia, familial, 4 609975
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
- Trifunctional protein deficiency 609015
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
- Trifunctional protein deficiency 609015
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
- Hemochromatosis, type 2B 613313
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ?Perrault syndrome 2 614926
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
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
-
Literature
Phenotypes
- Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Microphthalmia, syndromic 7, 309801
- Linear skin defects with multiple congenital anomalies 1
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- GM2-gangliosidosis, several forms 272800
- Tay-Sachs disease 272800
- [Hex A pseudodeficiency] 272800
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hemochromatosis, OMIM:235200
- Disorder of iron metabolism
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
- Hemochromatosis, type 2A, 602390
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
- Mucopolysaccharidosis, Type III
- Mucopolysaccharidosis Type IIIC
- Mucopolysaccharidosis Type III
- Retinitis Pigmentosa 73
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Methacrylic aciduria (Organic acidurias)
- 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
- HIBCH deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)
- lactic acidosis with seizures and eczema, immune deficiency
- Holocarboxylase synthetase deficiency
- Holocarboxylase synthetase deficiency, 253270
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Acute intermittent porphyria (Acute neuropathic porphyrias)
- Porphyria, acute intermittent, 176000
- Porphyria, acute intermittent, nonerythroid variant, 176000
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- HMG-CoA synthase-2 deficiency 605911
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Hyperoxaluria, primary, type III 613616
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hawkinsinuria 140350
- Tyrosinemia, type III 276710
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyperuricemia, HRPT-related, OMIM:300323
- Lesch-Nyhan syndrome, OMIM:300322
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hermansky-Pudlak syndrome 1 203300
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Intellectual disability
- dysmorphic features
- congenital anomalies
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Literature
Phenotypes
- HSD10 mitochondrial disease, OMIM:300438
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
- D-bifunctional protein deficiency, 261515
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis)
- Bile acid synthesis defect, congenital, 1, 607765
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR)
- Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 3-methylglutaconic aciduria, type VIII 617248
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
UKGTN
Phenotypes
- ?Mucopolysaccharidosis type IX, 601492
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
- ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)
- D-2-hydroxyglutaric aciduria 2, 613657
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS II, Hunter disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis II, 309900
- Mucopolysaccharidosis Type II
- MUCOPOLYSACCHARIDOSIS TYPE 2
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis Ih, 607014
- Mucopolysaccharidosis type 1H
- Mucopolysaccharidosis type 1S
- Mucopolysaccharidosis Is, 607016
- Mucopolysaccharidosis type 1H/S
- Mucopolysaccharidosis Ih/s, 607015
- Mucopolysaccharidosis, Type I
- Hurler syndrome
- Hurler-Scheie syndrome
- Scheie syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Microcephaly, epilepsy, and diabetes syndrome 614231
Tags
|
Green
Green List (high evidence)
|
ISCA-37440-Loss
Region
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ClinGen
-
Expert Review Green
Phenotypes
- mild/moderate mental retardation
- facial dysmorphism
- Hypotonia-cystinuria syndrome (HCS)
- 2p21 deletion syndrome
- rapid weight gain in late childhood
- failure to thrive
- growth hormone deficiency
- 606407
- lactic acidemia
- respiratory chain complex IV deficiency
- hyperphagia
- minor facial dysmorphism
- severe somatic and developmental delay
- nephrolithiasis
- cystinuria
- neonatal seizures
- hypotonia
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Multiple mitochondrial dysfunctions syndrome 4 616370
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Rhabdomyolysis and metabolic muscle disorders
Tags
- non-coding-known-pathogenic
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Inosine triphosphatase deficiency (Disorders of purine metabolism)
- Epileptic encephalopathy, early infantile, 35, 616647
- [Inosine triphosphatase deficiency], 613850
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Isovaleric aciduria (Organic acidurias)
- metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
- Isovaleric acidemia
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
- Deafness, autosomal recessive 89, 613916
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
- ?Hydroxykynureninuria, 236800
- multiple congenital malformations
- VACTERL-like phenotype
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- L-2-hydroxyglutaric aciduria 236792
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
- N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
Phenotypes
- ?Infantile liver failure syndrome 1, 615438
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Perrault syndrome 4, OMIM:615300
- Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ?Reynolds syndrome 613471
- Greenberg skeletal dysplasia 215140
- Pelger-Huet anomaly 169400
- Pelger-Huet anomaly with mild skeletal anomalies 618019
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)
- Norum disease/LCAT deficiency, 245900
- Fish-eye disease, 136120
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Lactose intolerance (Other carbohydrate disorders)
- Lactase deficiency, congenital, 223000
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Muscle LDH deficiency (Glycogen storage disorders)
- Glycogen Storage Disease
- Glycogen storage disease XI, 612933
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypercholesterolemia, familial, 1 143890
- LDL cholesterol level QTL2 143890
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypercholesterolemia, familial, 4 603813
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Cholesteryl ester storage disease 278000
- Wolman disease 278000
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Lipoyltransferase 1 deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblF type 277380
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Myoglobinuria, acute recurrent, autosomal recessive 268200
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
- Lipoprotein lipase deficiency, 238600
- Combined hyperlipidemia, familial, 144250
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex IV deficiency
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Leigh syndrome, French-Canadian type, 220111
- Mitochondrial Diseases
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
Phenotypes
- Combined oxidative phosphorylation deficiency 19, OMIM:615595
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital disorder of glycosylation, type Icc OMIM:301031
- congenital disorder of glycosylation, type ICC MONDO:0026729
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM:300853
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MAN1B1-CDG (Disorders of protein N-glycosylation)
- Mental retardation, autosomal recessive 15 614202
- MAN1B1-CDG (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mannosidosis, alpha-, types I and II 248500
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Mannosidosis, beta 248510
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Brunner syndrome 300615
- {Antisocial behavior} 300615
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Spastic Ataxia 13, autosomal recessive, 611390
- ?Combined oxidative phosphorylation deficiency 25
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 250850
- Methionine adenosyltransferase deficiency, autosomal recessive 250850
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- 3-Methylcrotonyl-CoA carboxylase 1 deficiency 210200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- 3-Methylcrotonyl-CoA carboxylase 2 deficiency 210210
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Methylmalonyl-CoA epimerase deficiency (Organic acidurias)
- metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
- Methylmalonyl-CoA epimerase deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mucolipidosis IV (Other lysosomal disorders)
- Mucolipidosis, Type IV
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260
- Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087
- Hereditary motor and sensory neuropathy VIA, OMIM:601152
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Ceroid lipofuscinosis, neuronal, 7 610951
- Macular dystrophy with central cone involvement 616170
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type IIa 212066
- N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 11, 615084
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Malonyl-CoA decarboxylase deficiency (Organic acidurias)
- 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
- malonic aciduria
- Malonyl-CoA decarboxylase deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism)
- Methylmalonic aciduria, vitamin B12-responsive 251100
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism)
- Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type 277400
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Homocystinuria, cblD type, variant 1 277410
- Methylmalonic aciduria and homocystinuria, cblD type 277410
- Methylmalonic aciduria, cblD type, variant 2 277410
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Molybdenum cofactor deficiency A 252150
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Molybdenum cofactor deficiency B 252160
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- MOGS-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type IIb, 606056
- (MOGS-CDG (Disorders of protein N-glycosylation))
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
- Congenital disorder of glycosylation, type If 609180
- Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital disorder of glycosylation, type Ib, OMIM:602579
- MPI-CDG, MONDO:0011257
- Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3
- Mitochondrial DNA Depletion Syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Combined oxidative phosphorylation deficiency 9, 614582
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 5, 611719
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis)
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
- CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
- BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- LEBER OPTIC ATROPHY
- SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
- CYTOCHROME c OXIDASE DEFICIENCY
- MYOGLOBINURIA, RECURRENT
- CYTOCHROME c OXIDASE I DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- CYTOCHROME c OXIDASE DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- LEBER OPTIC ATROPHY
- ENCEPHALOMYOPATHY, MITOCHONDRIAL
- MULTISYSTEM DISORDER
- EXERCISE INTOLERANCE
- CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
- EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA
- PARKINSONISM/MELAS OVERLAP SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- LEBER OPTIC ATROPHY
- SUDDEN INFANT DEATH SYNDROME
- MITOCHONDRIAL COMPLEX I DEFICIENCY
- DYSTONIA, ADULT-ONSET
- MELAS SYNDROME
- DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- LEBER OPTIC ATROPHY
- MITOCHONDRIAL COMPLEX I DEFICIENCY
- LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- MITOCHONDRIAL COMPLEX I DEFICIENCY
- LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MITOCHONDRIAL
|
Sources
Phenotypes
- LEBER OPTIC ATROPHY
- MELAS SYNDROME
- LEBER OPTIC ATROPHY AND DYSTONIA
- MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
- gene-checked
- gene-therapy-trial
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- LEBER OPTIC ATROPHY
- LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
- MELAS SYNDROME
- MERRF SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- LEBER OPTIC ATROPHY
- LEBER OPTIC ATROPHY AND DYSTONIA
- LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
- MELAS SYNDROME
- STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MITOCHONDRIAL
|
Sources
Phenotypes
- DEAFNESS, AMINOGLYCOSIDE-INDUCED
- DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
- CARDIOMYOPATHY, RESTRICTIVE
- AUDITORY NEUROPATHY
Tags
- gene-checked
- locus-type-rna-ribosomal
|
Green
Green List (high evidence)
|
|
1 review
|
MITOCHONDRIAL
|
Sources
Phenotypes
- MYOTONIC DYSTROPHY-LIKE MYOPATHY
- MITOCHONDRIAL MYOPATHY
Tags
- gene-checked
- locus-type-rna-transfer
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- MELAS SYNDROME
- DYSTONIA, MITOCHONDRIAL
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- MITOCHONDRIAL MYOPATHY, ISOLATED
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Phenotypes
- MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
- DIABETES AND DEAFNESS, MATERNALLY INHERITED
- MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
MITOCHONDRIAL
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 15 614947
- Mitochondrial complex I deficiency, nuclear type 27 618248
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport)
- Homocystinuria due to MTHFR deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 10, 614702
- infantile hypertrophic cardiomyopathy and lactic acidosis.
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- ?Spastic ataxia 4, autosomal recessive, 613672
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Homocystinuria-megaloblastic anemia, cblG complementation type 250940
- {Neural tube defects, folate-sensitive, susceptibility to} 601634
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Homocystinuria-megaloblastic anemia, cbl E type 236270
- {Neural tube defects, folate-sensitive, susceptibility to} 601634
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Familial abetalipoproteinaemia (Inherited hypolipidaemias)
- Abetalipoproteinemia, 200100
- (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Methylmalonyl-CoA mutase deficiency (Organic acidurias)
- metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
- Methylmalonic aciduria, mut(0) type 251000
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyper-IgD syndrome, OMIM:260920
- Mevalonic aciduria, OMIM:610377
- Porokeratosis 3, multiple types, OMIM:175900
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Kanzaki disease 609242
- Schindler disease, type I 609241
- Schindler disease, type III 609241
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
- Mucopolysaccharidosis, Type III
- Mucopolysaccharidosis Type IIIB
- Mucopolysaccharidosis Type III
- MUCOPOLYSACCHARIDOSIS TYPE 3B
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias)
- N-acetylglutamate synthase deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 24
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Leigh syndrome, 256000
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Leigh syndrome due to mitochondrial complex I deficiency, 256000
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Leigh syndrome, 256000
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
- Mitochondrial complex 1 deficiency, 252010
- Mitochondrial Diseases
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Leigh syndrome due to mitochondrial complex I deficiency, 256000
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
Phenotypes
- Isolated complex I deficiency
- Linear skin defects with multiple congenital anomalies 3
- histiocytoid cardiomyopathy
- microphthalmia with linear skin defects syndrome
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Complex I, mitochondrial respiratory chain, deficiency of, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Leigh syndrome, 256000
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Leigh syndrome due to mitochondrial complex I deficiency, 256000
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Sialidosis (Oligosaccharidoses)
- Sialidosis
- Sialidosis, type I
- Sialidosis type II
- Mucolipidosis, Type I
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
Phenotypes
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- OrphaNet: ORPHA404454
- OMIM:615273
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
Phenotypes
- Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Niemann-Pick disease, type C1 257220
- Niemann-Pick disease, type D 257220
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Niemann-pick disease, type C2 607625
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Literature
Phenotypes
- Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis)
- CHILD syndrome 308050 XLD
- CK syndrome 300831 XLR
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)
- Anemia, hemolytic, due to UMPH1 deficiency, 266120
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism)
- Gyrate atrophy of choroid and retina with or without ornithinemia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Dent disease 2, OMIM:300555
- Lowe syndrome, OMIM:309000
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740
- oxoglutaricaciduria, MONDO:0008759
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Optic atrophy 1, OMIM:165500
- Optic atrophy plus syndrome, OMIM:125250
- Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896
- Behr syndrome, OMIM:210000
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias)
- 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Literature
Phenotypes
- Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)
- Ornithine transcarbamylase deficiency, 311250
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism)
- Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- severe ketosis on fasting often ketotic in fed state no hepatomegaly
- Succinyl CoA:3-oxoacid CoA transferase deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Phenylketonuria 261600
- [Hyperphenylalaninemia, non-PKU mild] 261600
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- HARP syndrome 607236
- Neurodegeneration with brain iron accumulation 234200
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Pyruvate carboxylase deficiency, OMIM:266150
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperphenylalaninemia, BH4-deficient, D 264070
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Propionic aciduria (Organic acidurias)
- metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
- Propionicacidemia
- Propionic acidemia
- Propionicacidemia 606054
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Propionic aciduria (Organic acidurias)
- as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
- Propionicacidemia
- Propionic acidemia
- Propionicacidemia 606054
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
Phenotypes
- ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypercholesterolemia, familial, 3 603776
- {Low density lipoprotein cholesterol level QTL 1} 603776
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
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
-
Literature
Phenotypes
- Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism)
- Pyruvate dehydrogenase E1-alpha deficiency, 312170
- Leigh syndrome, X-linked, 308930
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Lacticacidemia due to PDX1 deficiency, OMIM:245349
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
- Pyruvate dehydrogenase phosphatase deficiency, 608782
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
- Coenzyme Q10 deficiency, primary, 2, 614651
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
- Coenzyme Q10 deficiency, primary, 3, 614652
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Prolidase deficiency 170100
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Isolated complex IV deficiency
- Mitochondrial complex IV deficiency, 220110
- Leigh syndrome
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 1A (Zellweger) 214100
- Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 6A (Zellweger) 614870
- Peroxisome biogenesis disorder 6B 614871
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Peroxisome biogenesis disorder 14B
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 3A (Zellweger), 614859
- Peroxisome biogenesis disorder 3B
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 11A (Zellweger)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 13A (Zellweger)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 8A, (Zellweger), 614876
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Peroxisomal biogenesis disorders
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 12A (Zellweger)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 5A (Zellweger), 614866
- Peroxisome biogenesis disorder 5B, 614867
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 7A (Zellweger) 61487
- Peroxisome biogenesis disorder 7B 614873
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 2A (Zellweger)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Heimler syndrome 2, OMIM:616617
- Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862
- Peroxisome biogenesis disorder 4B, OMIM:614863
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
- Peroxisome biogenesis disorder 9B 614879
- Rhizomelic chondrodysplasia punctata, type 1
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glycogen storage disease VII 232800
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease type X (Glycogen storage disorders)
- Rhabdomyolysis and metabolic muscle disorders
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- Hyperphosphatasia with mental retardation syndrome 3 614207
- PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 4
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Phosphoglycerate kinase 1 deficiency 300653
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease type XIV (Glycogen storage disorders)
- Glycogen storage disease XIV, 612934
- Congenital disorder of glycosylation, type It, 614921
- Glycogen Storage Disease Type XIV
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
- Congenital disorder of deglycosylation 615273
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Neu-Laxova syndrome 1 256520
- Phosphoglycerate dehydrogenase deficiency 601815
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscle glycogenosis 300559
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)
- hepatomegaly and mild hypoglycaemia
- Glycogen storage disease, type IXa1, 306000
- Glycogen storage disease, type IXa2, 306000
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders)
- hepatomegaly and variable myopathy
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders)
- hepatomegaly and variable myopathy
- Glycogen storage disease IXc, 613027
- Cirrhosis due to liver phosphorylase kinase deficiency
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)
- Refsum disease, 266500
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- CHIME syndrome 280000
- PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycosylphosphatidylinositol deficiency, OMIM:610293
Tags
- curated-variant-list
- non-coding-known-pathogenic
- promoter
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- Multiple congenital anomalies-hypotonia-seizures syndrome 1
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- Hyperphosphatasia with mental retardation syndrome 2 614749
- (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- Hyperphosphatasia with mental retardation syndrome 1 239300
- (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Parkinson disease 6, early onset 605909
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Infantile neuroaxonal dystrophy 1 256600
- Neurodegeneration with brain iron accumulation 2B 610217
- Parkinson disease 14, autosomal recessive 612953
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ia 212065
- Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- non-progressive cerebellar ataxia
- slowly progressive cerebellar ataxia
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 13, OMIM:614932
- Deafness, autosomal recessive 70, OMIM:614934
- Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Mitochondrial DNA depletion syndrome 4A (Alpers type)
- Progressive external ophthalmoplegia, autosomal recessive, 258450
- Progressive external ophthalmoplegia, autosomal dominant, 157640
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
- Mitochondrial DNA Depletion Syndrome
- Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528
- Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157
- Retinitis pigmentosa 76 617123
- Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
- Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
- Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
- Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Sudden cardiac failure, infantile, 617222
- Sudden cardiac failure, alcohol-induced, 617223
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Variegate porphyria (Acute neuropathic porphyrias)
- Porphyria variegata 176200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Ceroid lipofuscinosis, neuronal, 1 256730
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Cardiomyopathy, hypertrophic 6 600858
- Glycogen storage disease of heart, lethal congenital 261740
- Wolff-Parkinson-White syndrome 194200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyperprolinemia, type I, OMIM:239500
- hyperprolinemia type 1, MONDO:0009400
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Arts syndrome 301835
- Charcot-Marie-Tooth disease, X-linked recessive, 5 311070
- Deafness, X-linked 1 304500
- Gout, PRPS-related 300661
- Phosphoribosylpyrophosphate synthetase superactivity 300661
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Prosaposin deficiency (Sphingolipidoses)
- Metachromatic leukodystrophy due to SAP-b deficiency, 249900
- Gaucher disease, atypical, 610539
- Combined SAP deficiency, 611721
- Krabbe disease, atypical, 611722
- Atypical Gaucher disease
- Atypical Krabbe disease
- Combined SAP deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ?Phosphoserine aminotransferase deficiency 610992
- Neu-Laxova syndrome 2 616038
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism)
- Intellectual disability
- Hyperphenylalaninemia, BH4-deficient, A 261640
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism)
- Cutis laxa, autosomal recessive, type IIB, 612940
- Cutis laxa, autosomal recessive, type IIIB, 614438
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease type VI, Hers (Glycogen storage disorders)
- hepatomegaly and mild hypoglycaemia
- Glycogen storage disease VI, 232700
- Glycogen Storage Disease Type VI
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease type V, McArdle (Glycogen storage disorders)
- McArdle disease 232600
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperphenylalaninemia, BH4-deficient, C 261630
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Pontocerebellar hypoplasia, type 6, 611523
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Retinol binding protein deficiency (Other disorders of vitamins and cofactors)
- Posterior segment abnormalities
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type In 612015
- Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 11, 614922
- Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism)
- Ribose 5-phosphate isomerase deficiency, OMIM:608611
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mental retardation, X-linked, syndromic, 35 300998
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism)
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
- Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
- Mitochondrial DNA Depletion Syndrome (recessive)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
- Spastic ataxia, Charlevoix-Saguenay type
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5
- Aicardi-Goutieres syndrome-5 (AGS5)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Anderson disease (Inherited hypolipidaemias)
- CHYLOMICRON RETENTION DISEASE 246700
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Lathosterolosis (Disorders of sterol biosynthesis)
- Cataracts
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex IV deficiency
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
- Myopia 6, 608908
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011
- Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259
- Cardiomyopathy, dilated, 1GG, OMIM:613642
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex II deficiency
- Mitochondrial complex II deficiency, 252011
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex II Deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Mitochondrial Diseases
- Isolated complex II deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Dyserythropoietic anemia, congenital, type II, OMIM:224100
- COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
- Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
- Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis, Type III
- Mucopolysaccharidosis Type IIIA
- Mucopolysaccharidosis Type III
- MUCOPOLYSACCHARIDOSIS TYPE 3A
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disaccharide intolerance 1 (Other carbohydrate disorders)
- CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Trichohepatoenteric syndrome 2 (Other metabolic disorders)
- Infantile enterocolitis & monogenic inflammatory bowel disease
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Gitelman syndrome, OMIM: 263800
- Gitelman syndrome, MONDO:0009904
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Erythrocyte lactate transporter defect, OMIM:245340
- Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021
- Monocarboxylate transporter 1 deficiency, OMIM:616095
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Salla disease, OMIM:604369
- Sialic acid storage disorder, infantile, OMIM:269920
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism)
- Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism)
- Thiamine-responsive megaloblastic anemia syndrome, 249270
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism)
- Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Carnitine deficiency, systemic primary, OMIM:212140
- systemic primary carnitine deficiency disease, MONDO:0008919
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
- Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Inherited white matter disorders
- Epileptic encephalopathy, early infantile, 39 612949
- Hypomyelination, global cerebral, 612949
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias)
- Citrullinemia, adult-onset type II 603471
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
- HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Microcephaly, Amish type (Disorders of thiamine metabolism)
- Microcephaly, Amish type, 607196
- Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
- Carnitine-acylcarnitine translocase deficiency 212138
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Epileptic encephalopathy, early infantile, 3, 609304
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness
- Combined oxidative phosphorylation deficiency 28
- intra-mitochondrial methylation deficiency.
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
- Mitochondrial phosphate carrier deficiency 610773
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- nonsyndromic autosomal recessive congenital sideroblastic anemia
- congenital sideroblastic anemias
- severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of mitochondrial DNA maintenance and integrity
- Disorders of mitochondrial protein transport
- Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
- Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
- Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- optic atrophy spectrum disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport)
- Cataracts
- Early onset dystonia
- Epileptic encephalopathy
- Familial Genetic Generalised Epilepsies
- Hereditary ataxia
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glucose transporter 2 deficiency (Disorders of glucose transport)
- Glycogen storage disease type XI (Glycogen storage disorders)
- renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
- Glycogen Storage Disorders- Liver
- Fanconi-Bickel Syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hypermanganesemia with dystonia 1, OMIM:613280
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
- Congenital disorder of glycosylation, type Iif, 603585
- CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
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
-
Literature
Phenotypes
- SLC35A2-CDG (other congenital disorders of glycosylation)
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
- Congenital disorder of glycosylation, type IIc 266265
- GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glycogen storage disease Ib, OMIM:232220
- Glycogen storage disease Ic, OMIM:232240
- Congenital disorder of glycosylation, type IIw, OMIM:619525
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hypermanganesemia with dystonia 2 617013
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Acrodermatitis enteropathica (Disorder of zinc metabolism)
- Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism)
- Congenital disorder of glycosylation, type IIn 616721
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cystinuria (Disorders of amino acid transport)
- Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
- Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)
- Hemochromatosis, type 4 606069 (Disorder of iron metabolism)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hereditary folate malabsorption (Disorders of folate metabolism and transport)
- Folate malabsorption, hereditary
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Brown-Vialetto-Van Laere syndrome 2 614707
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Brown-Vialetto-Van Laere syndrome 1 211530
- Fazio-Londe disease 211500
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Glucose/galactose malabsorption (Disorders of glucose transport)
- Glucose/galactose malabsorption 606824 (Disorders of glucose transport)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hartnup disorder 234500 AR
- Hyperglycinuria 138500 AD
- Iminoglycinuria, digenic 242600 AR
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Parkinsonism-dystonia, infantile, 1, 613135
- Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism)
- Early onset dystonia
- Intellectual disability
- Parkinson Disease and Complex Parkinsonism
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Lysinuric protein intolerance (Disorders of amino acid transport)
- Lysinuric protein intolerance 222700
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cystinuria (Disorders of amino acid transport)
- Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Niemann-Pick disease, type A 257200
- Niemann-Pick disease, type B 607616
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Spastic paraplegia 7, autosomal recessive, OMIM:607259
- hereditary spastic paraplegia 7, MONDO:0011803
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Sepiapterin reductase deficiency (Disorders of pterin metabolism)
- Early onset dystonia
- Intellectual disability
- Parkinson Disease and Complex Parkinsonism
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
- Charcot-Marie-Tooth disease
- Familial dysautonomia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
- Charcot-Marie-Tooth disease
- Familial dysautonomia
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- SRD5A3-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Iq 612379
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
- Congenital disorder of glycosylation, type Iy 300934
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
- Intellectual developmental disorder, autosomal recessive 12, OMIM:611090
- intellectual disability, autosomal recessive 12, MONDO:0012612
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- GM3 synthase deficiency (Disorders of complex lipid synthesis)
- Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- Salt and pepper developmental regression syndrome 609056
- Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
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
-
Literature
Phenotypes
- X-linked ichthyosis (Other disorders in the metabolism of sterols)
- Autosomal recessive congenital ichthyosis
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of mitochondrial DNA maintenance and integrity
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
- Mitochondrial DNA Depletion Syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Multiple sulfatase deficiency 272200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Sulfite oxidase deficiency 272300
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex IV deficiency
- Leigh syndrome, due to COX deficiency, 256000
- Mitochondrial Diseases
- Leigh Syndrome
- Complex IV deficiency
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex IV deficiency
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- ?Mitochondrial complex IV deficiency, 220110
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Transaldolase deficiency 606003
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism)
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
- Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of mitochondrial lipid metabolism
- Barth syndrome, 302060
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism)
- A- or hypo-gammaglobulinaemia
- Agranulocytosis
- Combined B and T cell defect
- Congenital neutropaenia
- Intellectual disability
- SCID
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hereditary haemochromatosis Type 3 (Disorder of iron metabolism)
- Hemochromatosis, type 3 604250
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of the mitochondrial import system
- Deafness, X-linked 1, progressive
- Mohr-Tranebjaerg syndrome, 304700
- Jensen syndrome, 311150
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism)
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
- Mitochondrial DNA Depletion Syndrome
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- CDG2K (other congenital disorders of glycosylation)
- Congenital disorder of glycosylation, type IIk 614727
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- Isolated complex V deficiency
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
- Mitochondrial Diseases
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal)
- Hereditary ataxia
- Intellectual disability
- Ceroid lipofuscinosis, neuronal, 2 204500
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1
- Familial cerebral small vessel disease
- Inherited white matter disorders
- Intellectual disability
- Intracerebral calcification disorders
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mulibrey nanism (Other peroxisomal disorders)
- Mulibrey nanism
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- {Deafness, mitochondrial, modifier of}, 580000
- Liver failure, transient infantile, 613070
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD)
- retinitis pigmentosa with erythrocytic microcytosis
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism)
- Hypomagnesemia 1, intestinal 602014
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Combined oxidative phosphorylation deficiency 3 610505
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex III deficiency
- Mitochondrial complex III deficiency, nuclear type 2, 615157
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex III Deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Trichohepatoenteric syndrome 1 (Other metabolic disorders)
- Infantile enterocolitis & monogenic inflammatory bowel disease
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- TTP1 deficiency (Other disorders of vitamins and cofactors)
- Hereditary ataxia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Combined oxidative phosphorylation deficiency 4 610678
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286
- Perrault syndrome 5, OMIM:616138
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism)
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
- Mitochondrial Neurogastrointestinal Encephalopathy Disease
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport)
- Crigler-Najjar syndrome, type I 218800
- Crigler-Najjar syndrome, type II 606785
Tags
- gene-therapy-trial
- treatable
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
- Cystic kidney disease
- Unexplained kidney failure in young people
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Orotic aciduria (Disorders of pyrimidine metabolism)
- Intellectual disability
- Orotic aciduria 258900
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
- Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
- Porphyria, congenital erythropoietic 263700
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 20, 615917
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ARC Syndrome (Other metabolic disorders)
- Arthrogryposis
- Inherited bleeding disorders
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ARC Syndrome (Other metabolic disorders)
- Arthrogryposis
- CAKUT
- Inherited bleeding disorders
- Unexplained kidney failure in young people
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Literature
Phenotypes
- Neurodegeneration with brain iron accumulation 5 300894
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Wolfram syndrome 1, OMIM:222300
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Xanthinuria type I (Disorders of purine metabolism)
- Xanthinuria type II (Disorders of purine metabolism)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Desbuquois dysplasia 2, 615777
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- ALG13-CDG (Disorders of protein N-glycosylation)
- Epileptic encephalopathy
- Intellectual disability
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tags
- nucleotide-repeat-expansion
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Retinitis pigmentosa 59, OMIM:613861
- ?Congenital disorder of glycosylation, type 1bb, OMIM:613861
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
- Developmental and epileptic encephalopathy 71, OMIM:618328
- ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339
Tags
- STR
- watchlist
- watchlist_moi
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Even-plus syndrome 616854
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Hepatic lipase deficiency, 614025
- [High density lipoprotein cholesterol level QTL 12] 612797
- {Diabetes mellitus, noninsulin-dependent} 125853
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Combined oxidative phosphorylation deficiency 2 610498
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- ?Mitochondrial complex I deficiency, nuclear type 24 618245
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- 5-oxoprolinase deficiency 260005
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Phosphoserine phosphatase deficiency 614023
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Acute necrotizing encephalopathy (Other metabolic disorders)
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism)
- Inherited white matter disorders
- Intellectual disability
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Rhabdomyolysis and metabolic muscle disorders
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Multiple endocrine tumours
- Multiple Tumours
- Neuro-endocrine Tumours- PCC and PGL
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Multiple endocrine tumours
- Multiple Tumours
- Neuro-endocrine Tumours- PCC and PGL
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Other
Phenotypes
- Immunodeficiency 44 616636
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines)
- Early onset dystonia
- Intellectual disability
- Parkinson Disease and Complex Parkinsonism
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 4, 615159
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism)
- Intellectual disability
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Primary idiopathic gout (Disorders of purine metabolism)
- [Junior blood group system] 614490
- [Uric acid concentration, serum, QTL1] 138900
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
- ?Congenital disorder of glycosylation, type Ii 607906
- Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Myoadenylate deaminase deficiency (Disorders of purine metabolism)
- Myopathy due to myoadenylate deaminase deficiency 615511
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Xanthinuria type II (Disorders of purine metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Usher syndrome, type IV 618144
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Other
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Spinocerebellar ataxia 7, OMIM:164500
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Other - please specifiy in evaluation comments
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Tn polyagglutination syndrome, somatic 300622
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Red
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Methylmalonic aciduria due to transcobalamin receptor defect 613646
- Methylmalonic aciduria, transient, due to transcobalamin receptor defect 613646
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism)
- Hyperalphalipoproteinemia 143470
- [High density lipoprotein cholesterol level QTL 10] 143470
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Carnosinaemia (Other disorders of peptide metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ?Mitochondrial complex IV deficiency 220110
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis)
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
- Dimethylglycine dehydrogenase deficiency 605850
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism)
- Hypomagnesemia 2, renal 154020
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
- {Colorectal cancer, susceptibility to, 1} 608812
- (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies))
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glycine encephalopathy 605899
- Glycine encephalopathy 605899
- Atypical glycine encephalopathy
- Infantile glycine encephalopathy
- Neonatal glycine encephalopathy
- transient neonatal hyperglycinemia
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Glutathionuria (Disorders of the gamma-glutamyl cycle)
- Gamma-glutamyl transpeptidase deficiency
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Essential fructosuria (Disorders of fructose metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- ?Spondylocostal dysostosis 3, autosomal recessive, 609813
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
- {Hypertriglyceridemia, susceptibility to}, 145750
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- {Spina bifida, folate-sensitive, susceptibility to} 601634 AR
- {Abruptio placentae, susceptibility to}
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ?N-acetylaspartate deficiency 614063
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Leigh syndrome due to mitochondrial complex I deficiency, 256000
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Infantile striatal necrosis (Other metabolic disorders)
- Striatonigral degeneration, infantile, 271930
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Phenotypes
- Zellweger syndrome
- peroxisome proliferation
- mild peroxisomal biogenesis defect
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism)
- [?Phosphohydroxylysinuria] 615011
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism)
- Pancreatic lipase deficiency 614338
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Phenotypes
- ?Maple syrup urine disease, mild variant 615135
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
- Hypotonia-cystinuria syndrome 606407
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism)
- {H. pylori infection, susceptibility to} 600263
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4
- Inherited white matter disorders
- Intellectual disability
- Intracerebral calcification disorders
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Aicardi-Goutieres syndrome 2, OMIM:610181
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3
- Inherited white matter disorders
- Intellectual disability
- Intracerebral calcification disorders
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism)
- [Sarcosinemia] 268900
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Scavenger receptor class B type I deficiency (Inherited hypolipidaemias)
- [High density lipoprotein cholesterol level QTL6] 610762
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Sedoheptulokinase deficiency (Other metabolic disorders)
- [Sedoheptulokinase deficiency] 617213
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Phenotypes
- {Rheumatoid arthritis, susceptibility to} 180300
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperglycinuria 138500 AD
- Iminoglycinuria, digenic 242600 AR
- Hyperglycinuria 138500
- Iminoglycinuria, digenic 242600
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Riboflavin deficiency 615026
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperglycinuria 138500
- Iminoglycinuria, digenic 242600
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperbilirubinemia, Rotor type, digenic 237450
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperbilirubinemia, Rotor type, digenic 237450
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Succinyl-CoA synthetase deficiency (Other metabolic disorders)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Glutaric aciduria type III (Organic acidurias)
- Glutaric aciduria type III 231690
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism)
- No OMIM number
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism)
- No OMIM number
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- non-alcoholic fatty liver disease
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism)
- {Thiopurines, poor metabolism of, 1} 610460
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Trehalase deficiency (Other carbohydrate disorders)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism)
- Beta-ureidopropionase deficiency 613161
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias)
Tags
|
No list
No list
|
STR
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Removed
-
NHS GMS
Phenotypes
- Spinocerebellar ataxia 7, OMIM:164500
Tags
|
No list
No list
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|