PanelApp
  1. Panels
  2. Metabolic Disorders Superpanel
Description
This superpanel combines existing metabolic disease panels.

1394 Entities

1236 reviewed, 1165 green

List Entity Reviews Mode of inheritance Details
1394 Entitiess
Green Green List (high evidence)
AARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 8 MIM#614096
  • Leukoencephalopathy, progressive, with ovarian failure MIM#615889
  • MONDO:0013570
Tags
Green Green List (high evidence)
AASS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • hyperlysinemia MONDO:0009388
Tags
Green Green List (high evidence)
ABAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GABA-transaminase deficiency, MIM# 613163
Tags
Green Green List (high evidence)
ABAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • mtDNA depletion syndrome (MDS)
Tags
Green Green List (high evidence)
ABCA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Tangier disease, MIM# 205400
  • HDL deficiency, familial, 1, MIM# 604091
Tags
Green Green List (high evidence)
ABCB11
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholestasis, progressive familial intrahepatic 2 MIM#601847
  • disorder of bile acid metabolism
Tags
Green Green List (high evidence)
ABCB11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • progressive familial intrahepatic cholestasis type 2 MONDO:0011156
  • Disorders of bile acid metabolism
Tags
Green Green List (high evidence)
ABCB4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of bile acid metabolism
  • progressive familial intrahepatic cholestasis type 3 MONDO:0011214
Tags
Green Green List (high evidence)
ABCB4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Progressive familial intrahepatic cholestasis type 3, MONDO:0011214
Tags
Green Green List (high evidence)
ABCB7
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Anaemia, sideroblastic, with ataxia, MIM# 301310
Tags
Green Green List (high evidence)
ABCB7
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 301310 Anemia, sideroblastic, with ataxia
Tags
Green Green List (high evidence)
ABCC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • Dubin-Johnson syndrome MONDO:0009380
Tags
Green Green List (high evidence)
ABCC6
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ABCC8
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Maturity-onset diabetes of the young, type 12, MIM# 621196
  • permanent neonatal diabetes mellitus MONDO:0100164
  • transient neonatal diabetes mellitus MONDO:0020525
Tags
Green Green List (high evidence)
ABCD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • adrenoleukodystrophy (MONDO:0018544)
Tags
Green Green List (high evidence)
ABCD4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
  • disorder of vitamin B12 metabolism
Tags
Green Green List (high evidence)
ABCG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Sitosterolaemia 2, MIM# 618666
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ABCG8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Sitosterolemia
Tags
Green Green List (high evidence)
ABHD12
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
  • disorder of of endocannabinoid metabolism
Tags
Green Green List (high evidence)
ABHD5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chanarin-Dorfman syndrome MIM#275630
  • neutral lipid storage disease with ichthyosis
  • lipid metabolism
Tags
Green Green List (high evidence)
ACAD8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • isobutyryl-CoA dehydrogenase deficiency MONDO:0012648
Tags
Green Green List (high evidence)
ACAD9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Tags
  • treatable
Green Green List (high evidence)
ACAD9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Tags
  • treatable
Green Green List (high evidence)
ACADM
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450
Tags
  • treatable
Green Green List (high evidence)
ACADM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Tags
  • treatable
Green Green List (high evidence)
ACADM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Tags
  • treatable
Green Green List (high evidence)
ACADSB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • 2-methylbutyrylglycinuria MIM#610006
Tags
Green Green List (high evidence)
ACADSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 2-methylbutyrylglycinuria MIM#610006
Tags
Green Green List (high evidence)
ACADSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392
Tags
Green Green List (high evidence)
ACADVL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • VLCAD deficiency, MIM# 201475
Tags
  • treatable
Green Green List (high evidence)
ACADVL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • VLCAD deficiency MIM#201475
Tags
  • treatable
Green Green List (high evidence)
ACADVL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • VLCAD deficiency 201475
Tags
  • treatable
Green Green List (high evidence)
ACAT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750
  • Deficiency of acetyl-CoA acetyltransferase
  • Beta-ketothiolase deficiency MONDO:0008760
Tags
  • treatable
Green Green List (high evidence)
ACAT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Alpha-methylacetoacetic aciduria MIM#203750
Tags
  • treatable
Green Green List (high evidence)
ACAT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • beta-ketothiolase deficiency MONDO:0008760
Tags
  • treatable
Green Green List (high evidence)
ACBD5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinal dystrophy with leukodystrophy (MIM#618863)
Tags
Green Green List (high evidence)
ACO2
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Infantile cerebellar-retinal degeneration, MIM#614559
  • Optic atrophy 9, MIM# 616289
Tags
Green Green List (high evidence)
ACOX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
Tags
Green Green List (high evidence)
ACOX2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Bile acid synthesis defect, congenital, 6, 617308
Tags
Green Green List (high evidence)
ACSF3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • combined malonic and methylmalonic acidemia MONDO:0013661
Tags
Green Green List (high evidence)
ACY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Aminoacylase 1 deficiency MIM#609924
  • disorder of amino acid metabolism
Tags
Green Green List (high evidence)
ACY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • aminoacylase 1 deficiency MONDO:0012368
Tags
Green Green List (high evidence)
ADA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency MIM#102700
  • Adenosine deaminase deficiency, partial MIM#102700
  • disorder of purine metabolism
Tags
Green Green List (high evidence)
ADA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Adenosine deaminase deficiency, partial MIM#102700
  • Severe combined immunodeficiency due to ADA deficiency MIM#102700
  • disorder of purine metabolism
Tags
Green Green List (high evidence)
ADA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of purine metabolism
  • Deficiency of adenosine deaminase 2 MONDO:0100317
Tags
Green Green List (high evidence)
ADAR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • Aicardi-Goutieres syndrome MONDO:0018866
Tags
Green Green List (high evidence)
ADK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • adenosine kinase deficiency MONDO:0100255
Tags
Green Green List (high evidence)
ADSL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • disorder of purine metabolism
  • Adenylosuccinase deficiency MIM#103050
Tags
Green Green List (high evidence)
ADSL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Adenylosuccinase deficiency MIM#103050
  • disorder of purine metabolism
Tags
Green Green List (high evidence)
AFG3L2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 5, autosomal recessive (MIM#614487)
  • Spinocerebellar ataxia 28 (MIM#610246)
  • Optic atrophy 12, MIM# 618977
Tags
Green Green List (high evidence)
AGA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Canavan disease MONDO:0010079
Tags
Green Green List (high evidence)
AGA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aspartylglucosaminuria, MIM# 208400
  • MONDO:0008830
Tags
Green Green List (high evidence)
AGK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Sengers syndrome, MIM#212350
Tags
Green Green List (high evidence)
AGL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease IIIa and IIIb, MIM# 232400
Tags
Green Green List (high evidence)
AGPAT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • congenital generalized lipodystrophy type 1 MONDO:0012071
Tags
Green Green List (high evidence)
AGPS
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
AGXT
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
AHCY
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404
Tags
Green Green List (high evidence)
AHCY
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
  • disorder of methionine metabolism
Tags
  • treatable
Green Green List (high evidence)
AICDA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hyper-IgM syndrome type 2 MONDO:0011528
  • Disorders of ectonucleotide and nucleic acid metabolism
Tags
Green Green List (high evidence)
AIFM1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
AK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hemolytic anemia due to adenylate kinase deficiency MONDO:0012967
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
AK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • reticular dysgenesis MONDO:0009973
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
AKR1D1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 2 MIM#235555
  • disorder of bile acid metabolism
Tags
  • treatable
Green Green List (high evidence)
ALAD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria, acute hepatic 612740
  • {Lead poisoning, susceptibility to} 612740
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
Tags
Green Green List (high evidence)
ALAS2
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
  • Royal Melbourne Hospital
Phenotypes
  • Protoporphyria, erythropoietic, X-linked, 300752
  • Anemia, sideroblastic, X-linked, 300751
Tags
Green Green List (high evidence)
ALAS2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 300752 Protoporphyria, erythropoietic, X-linked
  • Sideroblastic anaemia - increased serum ferritin
  • 300751 Anemia, sideroblastic, 1
Tags
Green Green List (high evidence)
ALDH18A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Tags
Green Green List (high evidence)
ALDH18A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA MIM#219150
  • Spastic paraplegia 9A, autosomal dominant MIM#601162
  • Spastic paraplegia 9B, autosomal recessive MIM#616586
  • Cutis laxa, autosomal dominant 3 MIM#616603
  • disorders of ornithine or proline metabolism
Tags
Green Green List (high evidence)
ALDH18A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • P5CS deficiency MONDO:0100126
Tags
Green Green List (high evidence)
ALDH3A2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sjogren-Larsson syndrome MIM#270200
  • disorder of lipid metabolism
Tags
Green Green List (high evidence)
ALDH4A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperprolinemia, type II MIM#239510
  • disorders of ornithine or proline metabolism
Tags
Green Green List (high evidence)
ALDH4A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • hyperprolinemia type 2 MONDO:0009401
Tags
Green Green List (high evidence)
ALDH5A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency MIM#271980
  • disorder of neurotransmitter metabolism
Tags
Green Green List (high evidence)
ALDH5A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Tags
Green Green List (high evidence)
ALDH6A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105
  • disorder of valine and pyrimidine metabolism
Tags
Green Green List (high evidence)
ALDH6A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579
Tags
Green Green List (high evidence)
ALDH7A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, pyridoxine-dependent, MIM# 266100
Tags
  • treatable
Green Green List (high evidence)
ALDH7A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • pyridoxine-dependent epilepsy MONDO:0009945
Tags
Green Green List (high evidence)
ALDH7A1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, pyridoxine-dependent MM#266100
  • disorder of lysine metabolism
Tags
  • treatable
Green Green List (high evidence)
ALDOA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XII , MIM#611881
Tags
Green Green List (high evidence)
ALDOB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Fructose intolerance, hereditary, MIM# 229600
Tags
Green Green List (high evidence)
ALG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ik 608540
Tags
Green Green List (high evidence)
ALG11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ip, MIM# 613661
Tags
Green Green List (high evidence)
ALG12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
Tags
Green Green List (high evidence)
ALG13
3 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Is (MIM# 300884)
Tags
Green Green List (high evidence)
ALG14
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031
  • Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
  • Disorder of N-glycosylation
Tags
Green Green List (high evidence)
ALG2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ii (MIM# 607906)
Tags
Green Green List (high evidence)
ALG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Id, MIM# 601110
Tags
Green Green List (high evidence)
ALG6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ic (MIM#603147)
Tags
Green Green List (high evidence)
ALG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ih, MIM# 608104
Tags
Green Green List (high evidence)
ALG9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Il, MIM#608776
  • Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Tags
Green Green List (high evidence)
ALMS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Alstrom syndrome
Tags
Green Green List (high evidence)
ALMS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alstrom syndrome MONDO:0008763
Tags
Green Green List (high evidence)
ALPL
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypophosphatasia
  • disorder of bone metabolism
Tags
Green Green List (high evidence)
AMACR
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
AMACR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Bile acid synthesis defect, congenital, 4, MIM# 214950
  • Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Tags
Green Green List (high evidence)
AMN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Imerslund-Grasbeck syndrome 2 MIM#618882
  • Disorders of cobalamin absorption, transport and metabolism
Tags
Green Green List (high evidence)
AMPD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • pontocerebellar hypoplasia type 9 MONDO:0014351
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
AMT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • glycine encephalopathy MONDO:0011612
Tags
Green Green List (high evidence)
AMT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glycine encephalopathy MIM#605899
  • disorder of glycine metabolism
Tags
Green Green List (high evidence)
ANGPTL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypobetalipoproteinemia, familial, 2 MIM#605019
Tags
Green Green List (high evidence)
AP1S1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MEDNIK syndrome MONDO:0012251
  • Disorders of copper metabolism
Tags
Green Green List (high evidence)
AP5M1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related
Tags
Green Green List (high evidence)
AP5Z1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • hereditary spastic paraplegia MONDO:0019064
Tags
Green Green List (high evidence)
APOA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836
Tags
Green Green List (high evidence)
APOA5
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hyperchylomicronemia
Tags
Green Green List (high evidence)
APOB
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hypobetalipoproteinemia, Hypercholesterolemia
Tags
  • treatable
Green Green List (high evidence)
APOC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperlipoproteinemia, type Ib MIM#207750
Tags
Green Green List (high evidence)
APOE
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy
Tags
Green Green List (high evidence)
APOPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061
Tags
Green Green List (high evidence)
APRT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • adenine phosphoribosyltransferase deficiency MONDO:0013869
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
APTX
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920
Tags
Green Green List (high evidence)
ARG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Argininemia MIM#207800
  • Urea cycle disorders and inherited hyperammonaemias
  • disorder of arginine metabolism
Tags
  • treatable
Green Green List (high evidence)
ARG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Argininemia 207800
Tags
  • treatable
Green Green List (high evidence)
ARG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • hyperargininemia MONDO:0008814
Tags
Green Green List (high evidence)
ARSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Metachromatic leukodystrophy, MIM# 250100
  • MONDO:0009591
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ARSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200
  • MONDO:0009661
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ARSE
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive (MIM#302950)
Tags
  • new gene name
Green Green List (high evidence)
ARSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mucopolysaccharidosis MONDO:0019249, ARSK-related
Tags
Green Green List (high evidence)
ASAH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Farber lipogranulomatosis, MIM# 228000
Tags
Green Green List (high evidence)
ASL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Argininosuccinic aciduria MIM#207900
  • Urea cycle disorders and inherited hyperammonaemias
  • disorder of amino acid metabolism
Tags
  • treatable
Green Green List (high evidence)
ASL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • argininosuccinic aciduria MONDO:0008815
Tags
Green Green List (high evidence)
ASL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Argininosuccinic aciduria 207900
Tags
  • treatable
Green Green List (high evidence)
ASNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258
Tags
Green Green List (high evidence)
ASPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Canavan disease MIM#271900
  • disorder of amino acid metabolism
Tags
Green Green List (high evidence)
ASS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • citrullinemia type I MONDO:0008988
Tags
Green Green List (high evidence)
ASS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Citrullinemia MIM#215700
  • Urea cycle disorders and inherited hyperammonaemias
  • disorder of amino acid metabolism
Tags
  • treatable
Green Green List (high evidence)
ASS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Citrullinemia 215700
Tags
  • treatable
Green Green List (high evidence)
ATAD3A
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Harel-Yoon syndrome, MIM# 617183
  • Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810
Tags
  • SV/CNV
Green Green List (high evidence)
ATIC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • AICA-ribosiduria due to ATIC deficiency MIM#608688
  • disorders of purine metabolism
Tags
Green Green List (high evidence)
ATP13A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 78, autosomal recessive 617225
Tags
Green Green List (high evidence)
ATP5A1
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358)
  • Combined oxidative phosphorylation deficiency 22 616045
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
  • Mitochondrial disorder, autosomal dominant
Tags
  • new gene name
Green Green List (high evidence)
ATP5D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120
Tags
  • new gene name
Green Green List (high evidence)
ATP5E
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Tags
  • new gene name
Green Green List (high evidence)
ATP5O
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Tags
  • new gene name
Green Green List (high evidence)
ATP6AP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • immunodeficiency-47 (MIM# 300972)
Tags
Green Green List (high evidence)
ATP6AP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIr, MIM# 301045
Tags
Green Green List (high evidence)
ATP6V0A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA, MIM# 219200
  • Wrinkly skin syndrome, MIM#278250
Tags
Green Green List (high evidence)
ATP7A
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Menkes disease MIM#309400
  • Occipital horn syndrome MIM#304150
  • disorder of copper matabolism
Tags
Green Green List (high evidence)
ATP7A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Disorders of copper metabolism
  • Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489)
Tags
Green Green List (high evidence)
ATP7B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 277900 WILSON DISEASE
Tags
Green Green List (high evidence)
ATP8B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • progressive familial intrahepatic cholestasis type 1 MONDO:0008892
  • Disorders of bile acid metabolism
Tags
Green Green List (high evidence)
ATP8B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1 MIM#211600
  • disorder of bile acid metabolism
Tags
Green Green List (high evidence)
AUH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria type 1 MONDO:0009610
Tags
Green Green List (high evidence)
AUH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type I 250950
Tags
Green Green List (high evidence)
B3GALNT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
  • MONDO:0014071
Tags
Green Green List (high evidence)
B3GALT6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Al-Gazali syndrome, MIM# 609465
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Tags
Green Green List (high evidence)
B3GAT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600
Tags
Green Green List (high evidence)
B3GLCT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peters-plus syndrome (MIM# 261540)
Tags
Green Green List (high evidence)
B4GALNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 26, autosomal recessive (MIM #609195)
Tags
Green Green List (high evidence)
B4GALT1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
B4GALT7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070
Tags
  • founder
Green Green List (high evidence)
BAAT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bile acid conjugation defect 1, MIM# 619232
  • Hypercholanemia, familial MIM#607748
  • disorder of bile acid metabolism
Tags
Green Green List (high evidence)
BCAT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058
Tags
Green Green List (high evidence)
BCKDHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ia 248600
Tags
  • treatable
Green Green List (high evidence)
BCKDHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • maple syrup urine disease type 1A MONDO:0023691
Tags
  • treatable
Green Green List (high evidence)
BCKDHB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ib 248600
Tags
  • treatable
Green Green List (high evidence)
BCKDHB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • maple syrup urine disease type 1B MONDO:0023692
Tags
  • treatable
Green Green List (high evidence)
BCKDK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970
Tags
  • treatable
Green Green List (high evidence)
BCS1L
3 reviews
3 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BOLA3
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BORCS5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lysosomal storage disease, MONDO:0002561, BORCS5-related
Tags
Green Green List (high evidence)
BSCL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • congenital generalized lipodystrophy type 2 MONDO:0010020
  • diabetes mellitus MONDO:0005015
Tags
Green Green List (high evidence)
BTD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Biotinidase deficiency MIM#253260
  • disorder of biotin metabolism
Tags
  • treatable
Green Green List (high evidence)
C12orf65
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Spastic paraplegia 55, autosomal recessive, MIM#615035
  • Combined oxidative phosphorylation deficiency 7, MIM# 613559
Tags
  • new gene name
Green Green List (high evidence)
C19orf70
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 37, MIM# 618329
Tags
Green Green List (high evidence)
C1QBP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 33, MIM# 617713
Tags
Green Green List (high evidence)
C2orf69
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Tags
Green Green List (high evidence)
CA5A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency 615751
Tags
Green Green List (high evidence)
CA5A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332
Tags
Green Green List (high evidence)
CA5A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Tags
  • SV/CNV
  • treatable
Green Green List (high evidence)
CAD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 50, MIM# 616457
Tags
Green Green List (high evidence)
CARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 27, MIM# 616672
  • MONDO:0014728
Tags
Green Green List (high evidence)
CAT
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
CBS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types MIM#236200
  • disorder of intracellular cobalamin metabolism
  • metabolic disorder of sulfur metabolism
Tags
  • treatable
Green Green List (high evidence)
CBS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • classic homocystinuria MONDO:0009352
Tags
Green Green List (high evidence)
CCDC115
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIo (MIM# 616828)
Tags
Green Green List (high evidence)
CHCHD10
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
  • Spinal muscular atrophy, Jokela type 615048
  • Myopathy, isolated mitochondrial, autosomal dominant 616209
Tags
  • founder
Green Green List (high evidence)
CHCHD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinson disease 22, autosomal dominant MIM#616710
Tags
Green Green List (high evidence)
CHKB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, MIM# 602541
  • Intellectual disability
  • Abnormal mitochondria
Tags
Green Green List (high evidence)
CHST14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Tags
Green Green List (high evidence)
CHST3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095
Tags
Green Green List (high evidence)
CHST6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Tags
Green Green List (high evidence)
CHSY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533
  • CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CIAO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 10, MIM#620960
Tags
Green Green List (high evidence)
CISD2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wolfram syndrome 2 MIM#604928
Tags
Green Green List (high evidence)
CISD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wolfram syndrome, MIM#2604928
Tags
Green Green List (high evidence)
CLCN6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Benign partial epilepsy
  • febrile seizures
  • NCL
Tags
Green Green List (high evidence)
CLDN10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of magnesium metabolism
  • HELIX syndrome MONDO:0060564
Tags
Green Green List (high evidence)
CLDN16
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of magnesium metabolism
  • renal hypomagnesemia 3 MONDO:0009550
Tags
Green Green List (high evidence)
CLDN19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of magnesium metabolism
  • renal hypomagnesemia 5 with ocular involvement MONDO:0009548
Tags
Green Green List (high evidence)
CLN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
  • MONDO:0008767
Tags
Green Green List (high evidence)
CLN5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, MIM# 256731
  • MONDO:0009745
Tags
Green Green List (high evidence)
CLN6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Tags
Green Green List (high evidence)
CLN8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, MIM# 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Tags
  • founder
Green Green List (high evidence)
CLPB
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561
  • 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835
Tags
Green Green List (high evidence)
CLPB
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
  • 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835
  • Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Tags
Green Green List (high evidence)
CLPP
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CNNM2
0 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • renal hypomagnesemia 6 MONDO:0013480
  • Disorders of magnesium metabolism
Tags
Green Green List (high evidence)
COA6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501
  • Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Tags
Green Green List (high evidence)
COA7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Tags
Green Green List (high evidence)
COASY
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodegeneration with brain iron accumulation 6 MIM#615643
  • Pontocerebellar hypoplasia, type 12 MIM#618266
Tags
Green Green List (high evidence)
COASY
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • neurodegeneration with brain iron accumulation 6 MONDO:0014290
  • Disorders of pantothenate and CoA metabolism
Tags
Green Green List (high evidence)
COG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIg, MIM# 611209
Tags
Green Green List (high evidence)
COG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIj 613489
Tags
Green Green List (high evidence)
COG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIi, MIM# 613612
Tags
Green Green List (high evidence)
COG6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIl, MIM# 614576
Tags
Green Green List (high evidence)
COG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIe , MIM#608779
Tags
Green Green List (high evidence)
COG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIh, MIM# 611182
Tags
Green Green List (high evidence)
COQ2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, MIM# 607426
  • MONDO:0011829
Tags
Green Green List (high evidence)
COQ2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • coenzyme Q10 deficiency, primary, 1 MONDO:0011829
Tags
Green Green List (high evidence)
COQ4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, MIM# 616276
  • Spastic ataxia 10, autosomal recessive, MIM# 620666
Tags
  • treatable
Green Green List (high evidence)
COQ6
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 8 MIM#616733
Tags
Green Green List (high evidence)
COQ8A
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
  • treatable
Green Green List (high evidence)
COQ8B
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ9
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
COX10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046
Tags
Green Green List (high evidence)
COX11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial disease (MONDO:0044970), COX11-related
Tags
Green Green List (high evidence)
COX15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Tags
Green Green List (high evidence)
COX18
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial disease (MONDO:0044970), COX18-related
Tags
Green Green List (high evidence)
COX20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054
Tags
Green Green List (high evidence)
COX6A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039
  • MONDO:0014467
Tags
Green Green List (high evidence)
COX6A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062
Tags
Green Green List (high evidence)
COX6B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Tags
Green Green List (high evidence)
COX7B
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 604290 ACERULOPLASMINEMIA
  • 604290 Hemosiderosis, systemic, due to aceruloplasminemia
Tags
Green Green List (high evidence)
CPOX
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Coproporphyria 121300
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
  • Harderoporphyria 121300
Tags
Green Green List (high evidence)
CPS1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Carbamoylphosphate synthetase I deficiency 237300
Tags
  • treatable
Green Green List (high evidence)
CPS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • carbamoyl phosphate synthetase I deficiency disease MONDO:0009376
Tags
Green Green List (high evidence)
CPT1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • CPT deficiency, hepatic, type IA 255120
Tags
  • treatable
Green Green List (high evidence)
CPT1A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • CPT deficiency, hepatic, type IA MIM#255120
Tags
  • treatable
Green Green List (high evidence)
CPT1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT deficiency, hepatic, type IA, MIM# 255120
Tags
  • treatable
Green Green List (high evidence)
CPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT II deficiency, infantile 600649
  • CPT II deficiency, lethal neonatal 608836
  • CPT II deficiency, myopathic, stress-induced 255110
Tags
  • treatable
Green Green List (high evidence)
CPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT deficiency, hepatic, type II 600649
  • CPT II deficiency, lethal neonatal 608836
Tags
  • treatable
Green Green List (high evidence)
CPT2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT II deficiency, infantile MIM#600649
  • CPT II deficiency, lethal neonatal MIM#608836
  • CPT II deficiency, myopathic, stress-induced MIM#255110
Tags
  • treatable
Green Green List (high evidence)
CRLS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 57, MIM# 620167
Tags
Green Green List (high evidence)
CSGALNACT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation
  • Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
Tags
Green Green List (high evidence)
CTH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • cystathioninuria MONDO:0009058
Tags
Green Green List (high evidence)
CTNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
  • Cystinosis, ocular nonnephropathic 219750
Tags
  • treatable
Green Green List (high evidence)
CTSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galactosialidosis, MIM# 256540
Tags
Green Green List (high evidence)
CTSC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Haim-Munk syndrome MIM#245010
  • Papillon-Lefevre syndrome MIM#245000
  • other lysosomal disorder
Tags
Green Green List (high evidence)
CTSC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ectodermal dysplasia syndrome MONDO:0019287
  • Other disorders of complex molecule degradation
Tags
Green Green List (high evidence)
CTSD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
  • MONDO:0012414
Tags
Green Green List (high evidence)
CTSF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362
Tags
Green Green List (high evidence)
CTSK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pycnodysostosis 265800
Tags
Green Green List (high evidence)
CUBN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Proteinuria, chronic benign MIM#618884
  • Imerslund-Grasbeck syndrome 1 MIM#261100
  • Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
Tags
  • treatable
Green Green List (high evidence)
CYB5R3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606
Tags
Green Green List (high evidence)
CYC1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
CYCS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Thrombocytopenia 4, MIM#612004
Tags
Green Green List (high evidence)
CYP24A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Other disorders of vitamin metabolism
  • hypercalcemia, infantile, 1 MONDO:0020739
Tags
Green Green List (high evidence)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cerebrotendinous xanthomatosis MIM#213700
  • Disorders of bile acid biosynthesis
Tags
Green Green List (high evidence)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebrotendinous xanthomatosis MIM#213700
Tags
Green Green List (high evidence)
CYP27B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • vitamin D-dependent rickets, type 1A MONDO:0020723
  • Other disorders of vitamin metabolism
Tags
Green Green List (high evidence)
CYP2R1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010810
  • Other disorders of vitamin metabolism
Tags
Green Green List (high evidence)
CYP7B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bile acid synthesis defect, congenital, 3 MIM#613812
  • Spastic paraplegia 5A, autosomal recessive MIM#270800
  • Disorders of bile acid biosynthesis
Tags
Green Green List (high evidence)
D2HGDH
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • D-2-hydroxyglutaric aciduria MIM#600721
Tags
Green Green List (high evidence)
DAP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Perrault syndrome 7, MIM# 621101
Tags
Green Green List (high evidence)
DARS2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DBH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dopamine beta-hydroxylase deficiency, MIM#223360
Tags
Green Green List (high evidence)
DBT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Maple syrup urine disease, type II 248600
Tags
  • treatable
Green Green List (high evidence)
DBT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • maple syrup urine disease MONDO:0009563
Tags
  • treatable
Green Green List (high evidence)
DCAF17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Woodhouse-Sakati syndrome MONDO:0009419
Tags
Green Green List (high evidence)
DDC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
DDOST
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • DDOST-congenital disorder of glycosylation MONDO:0013789
Tags
Green Green List (high evidence)
DGUOK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
  • Portal hypertension, noncirrhotic, 1, MIM# 617068
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Tags
Green Green List (high evidence)
DHCR24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Desmosterolosis, MONDO:0011217
Tags
Green Green List (high evidence)
DHCR7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Smith-Lemli-Opitz syndrome MIM#270400
  • Disorders of sterol biosynthesis
Tags
Green Green List (high evidence)
DHDDS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type 1bb, MIM# 613861
Tags
Green Green List (high evidence)
DHFR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Tags
Green Green List (high evidence)
DHODH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Miller syndrome MIM#263750
  • Disorders of pyrimidine metabolism
Tags
Green Green List (high evidence)
DHODH
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Miller syndrome MIM#263750
  • Disorders of pyrimidine metabolism
Tags
Green Green List (high evidence)
DHRSX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type 1DD, MIM# 301133
Tags
Green Green List (high evidence)
DHTKD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774
Tags
Green Green List (high evidence)
DHTKD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774
Tags
Green Green List (high evidence)
DLAT
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
DLD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • pyruvate dehydrogenase E3 deficiency MONDO:0009529
Tags
Green Green List (high evidence)
DLD
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
DNA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
Tags
Green Green List (high evidence)
DNAJC12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384
Tags
Green Green List (high evidence)
DNAJC12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304
Tags
Green Green List (high evidence)
DNAJC19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria type 5 MONDO:0012435
Tags
Green Green List (high evidence)
DNAJC19
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
DNAJC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523
Tags
Green Green List (high evidence)
DNAJC30
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leber Hereditary Optic Neuropathy, MIM#619382
Tags
Green Green List (high evidence)
DNAJC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083
Tags
Green Green List (high evidence)
DNM1L
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Literature
  • Expert Review Green
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726
Tags
Green Green List (high evidence)
DNM1L
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • ClinGen
  • Expert Review Green
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726
Tags
Green Green List (high evidence)
DNM2
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482
  • Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
  • Lethal congenital contracture syndrome 5, MIM# 615368
Tags
Green Green List (high evidence)
DOLK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • DK1-CDG, MONDO:0012556
  • Congenital disorder of glycosylation, type Im, MIM# 610768
Tags
Green Green List (high evidence)
DPAGT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ij, MIM# 608093
  • DPAGT1-CDG MONDO:0011964
Tags
Green Green List (high evidence)
DPM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ie, MIM# 608799
Tags
Green Green List (high evidence)
DPM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iu, MIM#615042
Tags
Green Green List (high evidence)
DPM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Tags
Green Green List (high evidence)
DPYD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency MIM#274270
  • 5-fluorouracil toxicity MIM#274270
  • Disorders of pyrimidine metabolism
Tags
  • pharmacogenomic
Green Green List (high evidence)
DPYD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency MONDO:0010130
  • Disorders of pyrimidine metabolism
Tags
Green Green List (high evidence)
DPYS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dihydropyrimidinuria MIM#222748
  • Disorders of pyrimidine metabolism
Tags
Green Green List (high evidence)
DPYS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dihydropyrimidinuria MONDO:0009111
  • Disorders of pyrimidine metabolism
Tags
Green Green List (high evidence)
EARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Leigh syndrome MONDO:0009723
  • Combined oxidative phosphorylation deficiency 12 MIM#614924
  • leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Tags
Green Green List (high evidence)
ECHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Leigh syndrome MONDO:0009723
Tags
Green Green List (high evidence)
ECHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Tags
Green Green List (high evidence)
EDEM3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type 2V, MIM# 619493
Tags
Green Green List (high evidence)
EIF2AK3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Wolcott-Rallison syndrome MONDO:0009192
  • neonatal diabetes mellitus MONDO:0016391
Tags
Green Green List (high evidence)
EIF2B1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Tags
Green Green List (high evidence)
EIF2S3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • microcephaly
  • MEHMO syndrome (X-linked NDM and microcephaly),300148
  • diabetes
  • epilepsy
  • hypogonadism
  • intellectual disability
  • hypogenitalism
  • central obesity
Tags
Green Green List (high evidence)
ELAC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 17, MIM#615440
Tags
Green Green List (high evidence)
ENO3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XIII, MIM#612932
Tags
Green Green List (high evidence)
ENPP1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cole disease, MIM# 615522
  • Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
  • Arterial calcification, generalized, of infancy, 1, MIM# 208000
Tags
Green Green List (high evidence)
EOGT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adams-Oliver syndrome 4 (MIM #615297)
  • scalp aplasia cutis congenita
  • transverse terminal limb defects
Tags
Green Green List (high evidence)
EPG5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vici syndrome MIM#242840
  • Congenital disorders of autophagy
Tags
Green Green List (high evidence)
EPG5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • Vici syndrome MONDO:0009452
Tags
Green Green List (high evidence)
EPM2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780
Tags
Green Green List (high evidence)
ETFA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
  • Disorders of mitochondrial fatty acid oxidation
Tags
Green Green List (high evidence)
ETFA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Glutaric acidemia IIA 231680
Tags
  • treatable
Green Green List (high evidence)
ETFA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutaric acidemia IIA, MIM# 231680
Tags
  • treatable
Green Green List (high evidence)
ETFA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glutaric acidemia IIA MIM#231680
  • Multiple acyl-CoA dehydrogenase deficiency (MADD)
Tags
  • treatable
Green Green List (high evidence)
ETFB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Glutaric acidemia IIB 231680
Tags
  • treatable
Green Green List (high evidence)
ETFB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutaric acidemia IIB, MIM# 231680
Tags
  • treatable
Green Green List (high evidence)
ETFB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glutaric acidemia IIB MIM#231680
  • Multiple acyl-CoA dehydrogenase deficiency (MADD)
Tags
  • treatable
Green Green List (high evidence)
ETFB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
  • Disorders of mitochondrial fatty acid oxidation
Tags
Green Green List (high evidence)
ETFDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
  • Disorders of mitochondrial fatty acid oxidation
Tags
Green Green List (high evidence)
ETFDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glutaric acidemia IIC MIM#231680
  • Multiple acyl-CoA dehydrogenase deficiency (MADD)
Tags
  • treatable
Green Green List (high evidence)
ETFDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutaric acidemia IIC, MIM# 231680
Tags
  • treatable
Green Green List (high evidence)
ETFDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Glutaric acidemia IIC 231680
Tags
  • treatable
Green Green List (high evidence)
ETHE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ethylmalonic encephalopathy, MIM# 602473
Tags
  • treatable
Green Green List (high evidence)
ETHE1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • treatable
Green Green List (high evidence)
EXT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exostoses, multiple, type 1 133700
  • Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
EXT2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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)
EXTL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Tags
Green Green List (high evidence)
FAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • tyrosinemia type I MONDO:0010161
Tags
Green Green List (high evidence)
FAR1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154)
  • Cataracts, spastic paraparesis, and speech delay, MIM#619338
Tags
Green Green List (high evidence)
FARS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • combined oxidative phosphorylation defect type 14 MONDO:0013986
  • hereditary spastic paraplegia 77 MONDO:0014882
Tags
Green Green List (high evidence)
FASTKD2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, MIM# 618855
  • FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Tags
Green Green List (high evidence)
FASTKD5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leigh syndrome MONDO:0009723, FASTKD5-related
Tags
Green Green List (high evidence)
FBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency, MIM# 229700
Tags
Green Green List (high evidence)
FBXL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Tags
Green Green List (high evidence)
FDFT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • squalene synthase deficiency MONDO:0032566
Tags
Green Green List (high evidence)
FDX2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900
  • inborn mitochondrial myopathy MONDO:0009637
Tags
Green Green List (high evidence)
FDXR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy and optic atrophy, MIM#617717
  • Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Tags
Green Green List (high evidence)
FECH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Protoporphyria, erythropoietic, autosomal recessive, 177000
Tags
  • deep intronic
  • SV/CNV
Green Green List (high evidence)
FH
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
FKRP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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)
FKTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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)
FLAD1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
FLAD1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
Tags
Green Green List (high evidence)
FLAD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • myopathy with abnormal lipid metabolism MONDO:0009703
  • Disorders of riboflavin metabolism
Tags
Green Green List (high evidence)
FMO3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • trimethylaminuria MONDO:0011182
Tags
Green Green List (high evidence)
FMO3
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trimethylaminuria MIM#602079
  • Disorders and variants of other enzymes that oxidise xenobiotics
Tags
Green Green List (high evidence)
FOLR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Tags
Green Green List (high evidence)
FOLR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013110
  • Disorders of folate metabolism
Tags
Green Green List (high evidence)
FOXP3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580
Tags
Green Green List (high evidence)
FOXRED1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 19 MIM#618241
Tags
Green Green List (high evidence)
FTCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glutamate formiminotransferase deficiency MIM#229100
  • Disorders of histidine, tryptophan or lysine metabolism
Tags
Green Green List (high evidence)
FTL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
  • LFTD
  • NBIA3
  • 615604 L-FERRITIN DEFICIENCY
  • HRFTC
  • 606159 Neurodegeneration with brain iron accumulation 3
  • 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
  • 600886 Hyperferritinemia-cataract syndrome
  • 615604 L-ferritin deficiency, dominant and recessive
Tags
Green Green List (high evidence)
FUCA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fucosidosis, MIM# 230000
  • MONDO:0009254
Tags
Green Green List (high evidence)
FUK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Tags
Green Green List (high evidence)
FUT8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation, 618005
Tags
Green Green List (high evidence)
FXN
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Friedreich ataxia, MIM# 229300
Tags
Green Green List (high evidence)
FXN_FRDA_GAA
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia MIM#229300
Tags
Green Green List (high evidence)
G6PC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease Ia, MIM# 232200
Tags
  • treatable
Green Green List (high evidence)
G6PC3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dursun syndrome 612541
  • Neutropenia, severe congenital 4, autosomal recessive 612541
Tags
Green Green List (high evidence)
GAA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease II (MIM#232300)
  • MONDO:0009290
Tags
Green Green List (high evidence)
GAA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease II, MIM# 232300
  • MONDO:0009290
Tags
Green Green List (high evidence)
GABBR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy, 59 MONDO:0033368
  • Gamma-aminobutyric acid neurotransmitter disorders
Tags
Green Green List (high evidence)
GABRA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 19, MIM# 615744
Tags
Green Green List (high evidence)
GABRB1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy, 45 MONDO:0014942
  • Gamma-aminobutyric acid neurotransmitter disorders
Tags
Green Green List (high evidence)
GABRB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631
  • Gamma-aminobutyric acid neurotransmitter disorders
Tags
Green Green List (high evidence)
GABRB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 43, MIM# 617113
Tags
Green Green List (high evidence)
GABRD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
  • Epilepsy
  • Susceptibility to epilepsy, MIM#613060
Tags
Green Green List (high evidence)
GABRG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 74 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3 607681
Tags
Green Green List (high evidence)
GAD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Developmental and epileptic encephalopathy 89, MIM# 619124
Tags
Green Green List (high evidence)
GALC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Krabbe disease, MIM# 245200
  • MONDO:0009499
Tags
Green Green List (high evidence)
GALE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galactose epimerase deficiency MIM#230350
  • Disorders of galactose metabolism
Tags
  • treatable
Green Green List (high evidence)
GALK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galactokinase deficiency with cataracts MIM#230200
  • Disorders of galactose metabolism
Tags
  • treatable
Green Green List (high evidence)
GALM
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Galactosemia IV MIM#618881
  • Disorders of galactose metabolism
Tags
Green Green List (high evidence)
GALNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis IVA, MIM# 253000
  • MONDO:0009659
Tags
  • treatable
Green Green List (high evidence)
GALNT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIt, MIM# 618885
Tags
Green Green List (high evidence)
GALNT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Tags
Green Green List (high evidence)
GALT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galactosemia MIM#230400
  • Disorders of galactose metabolism
Tags
  • treatable
Green Green List (high evidence)
GAMT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cerebral creatine deficiency syndrome 2 MIM#612736
  • Disorders of creatinine metabolism
Tags
  • treatable
Green Green List (high evidence)
GAMT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • guanidinoacetate methyltransferase deficiency MONDO:0012999
Tags
Green Green List (high evidence)
GARS
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial disease (MONDO:0044970), GARS1-related
  • Spinal muscular atrophy, infantile, James type, MIM# 619042
  • Charcot-Marie-Tooth disease, type 2D, MIM# 601472
  • Neuronopathy, distal hereditary motor, type VA, MIM# 600794
  • Multi-system mitochondrial disorder
Tags
  • new gene name
Green Green List (high evidence)
GATA4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • neonatal diabetes mellitus MONDO:0016391
Tags
Green Green List (high evidence)
GATA6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802
Tags
Green Green List (high evidence)
GATM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • AGAT deficiency MONDO:0012996
Tags
Green Green List (high evidence)
GATM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cerebral creatine deficiency syndrome 3 MIM#612718
Tags
Green Green List (high evidence)
GBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gaucher disease, perinatal lethal, MIM# 608013
  • Gaucher disease, type I, MIM# 230800
  • Gaucher disease, type II, MIM# 230900
  • Gaucher disease, type III, MIM# 231000
  • Gaucher disease, type IIIC, MIM# 231005
Tags
Green Green List (high evidence)
GBA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 230800 Gaucher disease, type I
  • 230900 Gaucher disease, type II
  • 231005 Gaucher disease, type IIIC
  • 231000 Gaucher disease, type III
Tags
Green Green List (high evidence)
GBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease IV, MIM# 232500
Tags
Green Green List (high evidence)
GCDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glutaricaciduria, type I MIM#231670
  • Organic acidurias
Tags
  • treatable
Green Green List (high evidence)
GCDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • glutaryl-CoA dehydrogenase deficiency MONDO:0009281
Tags
Green Green List (high evidence)
GCH1
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • GTP cyclohydrolase I deficiency MONDO:0100184
Tags
Green Green List (high evidence)
GCH1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Tags
Green Green List (high evidence)
GCK
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853)
  • Diabetes mellitus, permanent neonatal 1, AR (MIM#606176)
  • Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485)
  • MODY, type II, AD (MIM#125851)
Tags
Green Green List (high evidence)
GCLC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450
  • Disorders of the gamma-glutamyl cycle
Tags
Green Green List (high evidence)
GCLC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Gamma-glutamylcysteine synthetase deficiency MONDO:0009259
  • Disorders of glutathione metabolism
Tags
Green Green List (high evidence)
GCSH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • glycine encephalopathy MONDO:0011612
Tags
Green Green List (high evidence)
GCSH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Tags
Green Green List (high evidence)
GDAP1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706
  • Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340
  • Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Tags
Green Green List (high evidence)
GFER
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)
Tags
Green Green List (high evidence)
GFM1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
GFM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 39, OMIM #618397
Tags
Green Green List (high evidence)
GFPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Limb-girdle congenital myasthenic syndrome
  • Leukoencephalopathy
Tags
Green Green List (high evidence)
GGCX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187
  • Other disorders of vitamin metabolism
Tags
Green Green List (high evidence)
GIF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intrinsic factor deficiency MIM#261000
  • Disorders of cobalamin absorption, transport and metabolism
Tags
  • new gene name
Green Green List (high evidence)
GK
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glycerol kinase deficiency MIM#307030
  • Disorders of glycerol metabolism
Tags
Green Green List (high evidence)
GLA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fabry disease, MIM# 301500
  • MONDO:0010526
Tags
Green Green List (high evidence)
GLB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM1-gangliosidosis, type I, MIM# 230500
  • GM1-gangliosidosis, type II, MIM# 230600
  • GM1-gangliosidosis, type III, MIM# 230650
  • Mucopolysaccharidosis type IVB (Morquio), MIM# 253010
Tags
Green Green List (high evidence)
GLDC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • glycine encephalopathy MONDO:0011612
Tags
Green Green List (high evidence)
GLDC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glycine encephalopathy MIM#605899
  • Disorders of serine, glycine or glycerate metabolism
Tags
Green Green List (high evidence)
GLIS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436
Tags
Green Green List (high evidence)
GLRA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 1, MIM# 149400
Tags
Green Green List (high evidence)
GLRB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 2, MIM# 614619
Tags
Green Green List (high evidence)
GLRX5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 616860 Anemia, sideroblastic, 3, pyridoxine-refractory
  • Sideroblastic anaemia - increased serum ferritin
Tags
Green Green List (high evidence)
GLRX5
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
GLS
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 71 MIM#618328
  • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
  • disorder of amino acid metabolism
Tags
Green Green List (high evidence)
GLS
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Glutaminase deficiency MONDO:0600001
  • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Tags
Green Green List (high evidence)
GLS_GDPAG_GCA
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Tags
Green Green List (high evidence)
GLS_GDPAG_GCA
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Tags
Green Green List (high evidence)
GLUD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Tags
Green Green List (high evidence)
GLUD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • hyperinsulinism-hyperammonemia syndrome MONDO:0011717
Tags
Green Green List (high evidence)
GLUD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
Tags
Green Green List (high evidence)
GLUL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393
Tags
Green Green List (high evidence)
GLUL
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glutamine deficiency, congenital MIM#610015
  • Developmental and epileptic encephalopathy 116, MIM# 620806
Tags
Green Green List (high evidence)
GLYCTK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • D-glyceric aciduria MIM#220120
  • Disorders of serine, glycine or glycerate metabolism
Tags
Green Green List (high evidence)
GM2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • GM2-gangliosidosis, AB variant, MIM# 272750
Tags
Green Green List (high evidence)
GMPPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Tags
Green Green List (high evidence)
GMPPB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350)
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Tags
Green Green List (high evidence)
GNE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nonaka myopathy, MIM# 605820
Tags
Green Green List (high evidence)
GNE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nonaka myopathy 605820
  • Sialuria MIM#269921
  • ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
GNMT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glycine N-methyltransferase deficiency MIM#606664
  • Disorders of the metabolism of sulphur amino acids
Tags
Green Green List (high evidence)
GNPAT
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GNPTAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucolipidosis II alpha/beta, MIM# 252500
  • MONDO:0009650
  • Mucolipidosis III alpha/beta, MIM# 252600
  • MONDO:0018931
Tags
Green Green List (high evidence)
GNPTG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucolipidosis III gamma, MIM# 252605
  • MONDO:0009652
Tags
Green Green List (high evidence)
GNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIID, MIM# 252940
  • Sanfilippo syndrome type D, MONDO:0009658
Tags
Green Green List (high evidence)
GORAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Geroderma osteodysplasticum MIM#231070
Tags
Green Green List (high evidence)
GPAA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Tags
Green Green List (high evidence)
GPD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypertriglyceridemia, transient infantile MIM#614480
  • glycerol-3-phosphate dehydrogenase deficiency
Tags
Green Green List (high evidence)
GPD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial shuttles and carriers
  • transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Tags
Green Green List (high evidence)
GPHN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Molybdenum cofactor deficiency C MIM#615501
  • Disorders of molybdenum cofactor metabolism
Tags
Green Green List (high evidence)
GPHN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of molybdenum cofactor metabolism
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212
Tags
Green Green List (high evidence)
GPIHBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hyperlipoproteinemia, type ID
Tags
Green Green List (high evidence)
GPX4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593
  • Disorders of glutathione metabolism
Tags
Green Green List (high evidence)
GRHPR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • primary hyperoxaluria type 2 MONDO:0009824
  • Disorders of glyoxylate and oxalate metabolism
Tags
Green Green List (high evidence)
GRIA3
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
Phenotypes
  • Glutamate neurotransmitter disorders
  • X-linked complex neurodevelopmental disorder MONDO:0100148
Tags
Green Green List (high evidence)
GRIA4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641
Tags
Green Green List (high evidence)
GRIN1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
GRIN2A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
GRIN2B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
GRIN2D
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
GRM1
0 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia MONDO:0000437
  • Glutamate neurotransmitter disorders
Tags
Green Green List (high evidence)
GRM6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • GRM6-related retinopathy MONDO:0800397
Tags
Green Green List (high evidence)
GRN
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • neuronal ceroid lipofuscinosis MONDO:0016295
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842
Tags
Green Green List (high evidence)
GSS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glutathione synthetase deficiency MIM#266130
  • Hemolytic anemia due to glutathione synthetase deficiency MIM#231900
  • Disorders of the gamma-glutamyl cycle
Tags
Green Green List (high evidence)
GSS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • inherited glutathione synthetase deficiency MONDO:0017909
Tags
Green Green List (high evidence)
GSTZ1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • maleylacetoacetate isomerase deficiency MONDO:0060527
Tags
Green Green List (high evidence)
GTPBP3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 23, MIM#616198
Tags
Green Green List (high evidence)
GUK1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 21, MIM# 621071
Tags
Green Green List (high evidence)
GUK1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 21, MIM# 621071
Tags
Green Green List (high evidence)
GUSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis VII, MIM# 253220
  • MONDO:0009662
Tags
Green Green List (high evidence)
GYG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XV, MIM# 613507
  • Polyglucosan body myopathy 2, MIM# 616199
Tags
Green Green List (high evidence)
GYS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease 0, muscle, MIM# 611556
Tags
Green Green List (high evidence)
GYS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease 0, liver (MIM#240600)
Tags
Green Green List (high evidence)
HAAO
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660
  • NAD deficiency
Tags
Green Green List (high evidence)
HAAO
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554
Tags
Green Green List (high evidence)
HADH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
  • Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
  • SCHAD deficiency, MONDO:0009278
Tags
Green Green List (high evidence)
HADH
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Tags
Green Green List (high evidence)
HADHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • LCHAD deficiency, MIM# 609016
Tags
  • treatable
Green Green List (high evidence)
HADHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Trifunctional protein deficiency 609015
Tags
  • treatable
Green Green List (high evidence)
HADHA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • LCHAD deficiency MIM#609016
  • Trifunctional protein deficiency MIM#609015
Tags
  • treatable
Green Green List (high evidence)
HADHB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Trifunctional protein deficiency MIM#609015
Tags
  • treatable
Green Green List (high evidence)
HADHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Trifunctional protein deficiency 609015
Tags
  • treatable
Green Green List (high evidence)
HADHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trifunctional protein deficiency, MIM# 609015
Tags
  • treatable
Green Green List (high evidence)
HAMP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 2B 613313
Tags
Green Green List (high evidence)
HAMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 613313 Hemochromatosis, type 2B
  • 613313 HEMOCHROMATOSIS, TYPE 2B
  • HFE2B
Tags
Green Green List (high evidence)
HARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Perrault syndrome 2, MIM# 614926
Tags
Green Green List (high evidence)
HCCS
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HCFC1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657
  • disorder of cobalamin metabolism
Tags
Green Green List (high evidence)
HEXA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM2-gangliosidosis, several forms, MIM# 272800
  • Tay-Sachs disease, MIM# 272800
  • MONDO:0010100
Tags
Green Green List (high evidence)
HEXB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
  • MONDO:0010006
Tags
Green Green List (high evidence)
HFE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • haemochromatosis type 1 MONDO:0021001
Tags
Green Green List (high evidence)
HFE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 235200 Hemochromatosis
  • 235200 HEMOCHROMATOSIS, TYPE 1
  • 235200HEMOCHROMATOSIS, TYPE 1
  • HFE1
Tags
Green Green List (high evidence)
HFE2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • new gene name
Green Green List (high evidence)
HFE2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • HFE2A
  • 602390 HEMOCHROMATOSIS, TYPE 2A
  • 602390 Hemochromatosis, type 2A
Tags
Green Green List (high evidence)
HGD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Alkaptonuria MIM#203500
  • Disorders of phenylalanine or tyrosine metabolism
Tags
Green Green List (high evidence)
HGD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • alkaptonuria MONDO:0008753
Tags
Green Green List (high evidence)
HGSNAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
  • MONDO:0009657
  • Retinitis pigmentosa 73, MIM# 616544
  • MONDO:0014687
Tags
Green Green List (high evidence)
HIBCH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
Tags
Green Green List (high evidence)
HIBCH
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HLCS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Holocarboxylase synthetase deficiency, MIM# 253270
Tags
  • treatable
Green Green List (high evidence)
HLCS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Disorders of biotin metabolism
  • holocarboxylase synthetase deficiency MONDO:0009666
Tags
Green Green List (high evidence)
HLCS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Holocarboxylase synthetase deficiency 253270
Tags
  • treatable
Green Green List (high evidence)
HMBS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria, acute intermittent, 176000
  • Porphyria, acute intermittent, nonerythroid variant, 176000
Tags
Green Green List (high evidence)
HMGCL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • treatable
Green Green List (high evidence)
HMGCL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • HMG-CoA lyase deficiency MIM#246450
Tags
  • treatable
Green Green List (high evidence)
HMGCL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-hydroxy-3-methylglutaric aciduria MONDO:0009520
Tags
  • treatable
Green Green List (high evidence)
HMGCL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • HMG-CoA lyase deficiency, MIM# 246450
Tags
  • SV/CNV
  • treatable
Green Green List (high evidence)
HMGCS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • HMG-CoA synthase-2 deficiency MIM#605911
Tags
Green Green List (high evidence)
HMGCS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • HMG-CoA synthase-2 deficiency, MIM# 605911
Tags
Green Green List (high evidence)
HMOX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • heme oxygenase 1 deficiency MONDO:0013536
Tags
Green Green List (high evidence)
HNF1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
  • Maturity-Onset Diabetes Of The Young
  • MODY, type III, 600496
  • Maturity-onset diabetes of the young (MODY)
  • MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520
  • {Diabetes mellitus, noninsulin-dependent, 2}, 125853
  • Diabetes mellitus, insulin-dependent, 20, 612520
  • {Diabetes mellitus, insulin-dependent}, 222100
  • Maturity Onset Diabetes of the Young
  • MODY3
Tags
Green Green List (high evidence)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • renal cysts and diabetes syndrome MONDO:0007669
Tags
  • SV/CNV
Green Green List (high evidence)
HNF4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026
  • Maturity-Onset Diabetes Of The Young, Type 1
  • MODY1, 125850
  • {Diabetes mellitus, noninsulin-dependent}, 125853
Tags
Green Green List (high evidence)
HOGA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • primary hyperoxaluria type 3 MONDO:0013327
  • Disorders of ornithine, proline and hydroxyproline metabolism
Tags
Green Green List (high evidence)
HPD
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • tyrosinemia type III MONDO:0010162
  • hawkinsinuria MONDO:0007700
Tags
Green Green List (high evidence)
HPD
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hawkinsinuria MIM#140350
  • Tyrosinemia, type III MIM#276710
  • Disorders of phenylalanine or tyrosine metabolism
Tags
Green Green List (high evidence)
HPDL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026
  • Progressive neurological disorder
  • Leigh-like syndrome
Tags
Green Green List (high evidence)
HPRT1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Lesch-Nyhan syndrome MONDO:0010298
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
HPS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hermansky-Pudlak syndrome 1, MIM# 203300
Tags
Green Green List (high evidence)
HS2ST1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
  • Developmental delay and corpus callosum, skeletal, and renal abnormalities
  • disorder of glycosaminoglycan metabolism
Tags
Green Green List (high evidence)
HSD17B10
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HSD17B10
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • HSD10 mitochondrial disease, MIM# 300438
Tags
Green Green List (high evidence)
HSD17B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • D-bifunctional protein deficiency, AR (MIM#261515)
  • Perrault syndrome 1, AR (MIM#233400)
Tags
Green Green List (high evidence)
HSD3B7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bile acid synthesis defect, congenital, 1 MIM#607765
  • Disorders of bile acid biosynthesis
Tags
Green Green List (high evidence)
HSPA9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • even-plus syndrome MONDO:0014801
  • Disorders of mitochondrial protein quality control
Tags
Green Green List (high evidence)
HSPD1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HTRA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, MIM# 617248
Tags
Green Green List (high evidence)
IARS2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IBA57
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330
Tags
Green Green List (high evidence)
IDH2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • D-2-hydroxyglutaric aciduria 2 MIM#613657
Tags
Green Green List (high evidence)
IDH3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 90, MIM#619007
Tags
Green Green List (high evidence)
IDS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis II, MIM# 309900
  • MONDO:0010674
  • Hunter syndrome
Tags
  • treatable
Green Green List (high evidence)
IDUA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis Ih, MIM# 607014
  • Mucopolysaccharidosis Ih/s, MIM# 607015
  • Mucopolysaccharidosis Is, MIM# 607016
  • Mucopolysaccharidosis type 1, MONDO:0001586
Tags
Green Green List (high evidence)
IER3IP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
  • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Tags
Green Green List (high evidence)
IFIH1
3 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • Aicardi-Goutieres syndrome 7, MIM#615846
  • Early-onset Inflammatory Bowel Disease
Tags
Green Green List (high evidence)
IL2RA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive
  • {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942
  • insulin-dependent diabetes mellitus at 8-weeks
  • IPEX-like syndrome
  • neonatal diabetes
Tags
Green Green List (high evidence)
IMPDH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of purine metabolism
  • retinitis pigmentosa MONDO:0019200
Tags
Green Green List (high evidence)
INS
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • diabetes mellitus, permanent neonatal 4 MONDO:0030089
  • maturity-onset diabetes of the young type 10 MONDO:0013240
Tags
Green Green List (high evidence)
INSR
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • insulin-resistance syndrome type A MONDO:0012520
  • Rabson-Mendenhall syndrome MONDO:0009874
  • Donohue syndrome MONDO:0009517
Tags
Green Green List (high evidence)
ISCA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Tags
Green Green List (high evidence)
ISCA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Tags
Green Green List (high evidence)
ISCU
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ISPD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
Tags
  • new gene name
Green Green List (high evidence)
ITPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Inosine triphosphatase deficiency MIM#613850
  • Developmental and epileptic encephalopathy 35 MIM#616647
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
ITPA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of purine metabolism
  • Inosine triphosphatase deficiency MIM#613850
  • Developmental and epileptic encephalopathy 35 MIM#616647
Tags
Green Green List (high evidence)
IVD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Isovaleric acidaemia, MIM# 243500
Tags
  • treatable
Green Green List (high evidence)
IVD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • isovaleric acidemia MONDO:0009475
Tags
  • treatable
Green Green List (high evidence)
KARS
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KCNJ10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780
  • Disorders of magnesium metabolism
Tags
Green Green List (high evidence)
KCNJ11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • permanent neonatal diabetes mellitus MONDO:0100164
Tags
Green Green List (high evidence)
KCTD7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Progressive myoclonus epilepsy MONDO:0020074
  • Neuronal ceroid lipofuscinosis
Tags
Green Green List (high evidence)
KIAA0391
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 54, MIM# 619737
Tags
  • new gene name
Green Green List (high evidence)
KYNU
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555
Tags
Green Green List (high evidence)
KYNU
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hydroxykynureninuria MIM#236800
  • Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661
  • Disorders of histidine, tryptophan or lysine metabolism
Tags
Green Green List (high evidence)
L2HGDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • L-2-hydroxyglutaric aciduria MIM#236792
  • organic acidurias
Tags
Green Green List (high evidence)
L2HGDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial metabolite repair
  • L-2-hydroxyglutaric aciduria MONDO:0009370
Tags
Green Green List (high evidence)
LAMP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Danon disease, MIM# 300257
Tags
Green Green List (high evidence)
LAMP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Danon disease, MIM# 300257
  • MONDO:0010281
Tags
Green Green List (high evidence)
LARGE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
Tags
Green Green List (high evidence)
LARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile liver failure syndrome 1 MIM#615438
  • disorder of leucine metabolism
Tags
Green Green List (high evidence)
LARS2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LBR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Greenberg skeletal dysplasia MIM#215140
  • Disorders of sterol biosynthesis
Tags
Green Green List (high evidence)
LCAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fish-eye disease MIM#136120
  • Norum disease MIM#245900
  • Disorders of high density lipoprotein metabolism
Tags
Green Green List (high evidence)
LCT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lactase deficiency, congenital MIM#223000
  • Other carbohydrate disorders
Tags
Green Green List (high evidence)
LDHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XI, MIM# 612933
Tags
  • SV/CNV
Green Green List (high evidence)
LDHD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • D-lactic aciduria with susceptibility to gout MIM#245450
Tags
Green Green List (high evidence)
LDLR
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hypercholesterolemia
Tags
Green Green List (high evidence)
LDLRAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypercholesterolemia, familial, 4, MIM# 603813
Tags
Green Green List (high evidence)
LETM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Tags
Green Green List (high evidence)
LFNG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813
Tags
Green Green List (high evidence)
LIAS
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
LIG3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Tags
Green Green List (high evidence)
LIPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Wolman disease, Cholesterol ester storage disease
Tags
Green Green List (high evidence)
LIPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholesteryl ester storage disease, MIM# 278000
  • Wolman disease, MIM# 278000
  • Lysosomal acid lipase deficiency, MONDO:0010204
Tags
  • treatable
Green Green List (high evidence)
LIPC
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hepatic lipase deficiency MIM#614025
  • Inherited mixed hyperlipidaemias
  • hyperalphalipoproteinemia
Tags
Green Green List (high evidence)
LIPT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Lipoyltransferase 1 deficiency, MIM#616299
  • Leigh-like presentation
Tags
Green Green List (high evidence)
LIPT2
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LMBRD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblF type MIM#277380
  • Disorders of cobalamin absorption, transport and metabolism
Tags
  • treatable
Green Green List (high evidence)
LMBRD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • methylmalonic aciduria and homocystinuria type cblF MONDO:0010183
Tags
Green Green List (high evidence)
LMF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Combined lipase deficiency
Tags
Green Green List (high evidence)
LMNA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • Severe insulin resistance, partial lipodystrophy and diabetes
  • FPLD2
  • LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
  • Lipodystrophy, familial partial, 2, 151660
Tags
Green Green List (high evidence)
LONP1
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • CODAS syndrome, MIM#600373
  • mitochondrial disease (MONDO:0044970), LONP1-related
Tags
Green Green List (high evidence)
LPIN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200
Tags
Green Green List (high evidence)
LPL
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial
Tags
Green Green List (high evidence)
LRAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 14
Tags
Green Green List (high evidence)
LRBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity
Tags
Green Green List (high evidence)
LRPPRC
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LYRM7
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
MAGT1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Icc (MIM# 301031)
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Tags
Green Green List (high evidence)
MAN1B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive 15, MIM#614202
Tags
Green Green List (high evidence)
MAN2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mannosidosis, alpha-, types I and II, MIM# 248500
  • MONDO:0009561
Tags
  • treatable
Green Green List (high evidence)
MAN2B2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140
Tags
Green Green List (high evidence)
MANBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mannosidosis, beta, MIM# 248510
  • MONDO:0009562
Tags
Green Green List (high evidence)
MAOA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brunner syndrome, MIM# 300615
Tags
Green Green List (high evidence)
MAT1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • methionine adenosyltransferase deficiency MONDO:0009607
Tags
Green Green List (high evidence)
MAT1A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850
  • Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850
  • Disorders of the metabolism of sulphur amino acids
Tags
Green Green List (high evidence)
MCCC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950
Tags
Green Green List (high evidence)
MCCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200
  • Organic acidurias
Tags
Green Green List (high evidence)
MCCC2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950
Tags
Green Green List (high evidence)
MCCC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210
  • Organic acidurias
Tags
Green Green List (high evidence)
MCEE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615
Tags
Green Green List (high evidence)
MCEE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615
Tags
Green Green List (high evidence)
MCEE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency MIM#251120
  • Organic acidurias
Tags
Green Green List (high evidence)
MCOLN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucolipidosis IV, MIM# 252650
  • MONDO:0009653
Tags
  • SV/CNV
Green Green List (high evidence)
MDH2
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
MECR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282
  • MONDO:0015003
Tags
Green Green List (high evidence)
MFF
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MFN2
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MFSD8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
  • MONDO:0012588
  • Macular dystrophy with central cone involvement, MIM# 616170
  • MONDO:0014515
Tags
Green Green List (high evidence)
MGAT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIa, MIM# 212066
  • MGAT2-CDG, MONDO:0008908
Tags
Green Green List (high evidence)
MGME1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial DNA depletion syndrome 11, MIM# 615084
Tags
Green Green List (high evidence)
MIA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269
Tags
Green Green List (high evidence)
MICU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Myopathy with extrapyramidal signs, MIM# 615673
Tags
  • founder
Green Green List (high evidence)
MIPEP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 31, MIM# 617228
Tags
Green Green List (high evidence)
MLYCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Malonyl-CoA decarboxylase deficiency 248360
  • malonic aciduria
Tags
  • treatable
Green Green List (high evidence)
MLYCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Malonyl-CoA decarboxylase deficiency, MIM# 248360
Tags
  • treatable
Green Green List (high evidence)
MMAA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • methylmalonic aciduria, cblA type MONDO:0009613
Tags
  • treatable
Green Green List (high evidence)
MMAA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of cobalamin metabolism
  • methylmalonic aciduria, cblA type MONDO:0009613
Tags
Green Green List (high evidence)
MMAA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive 251100
Tags
  • treatable
Green Green List (high evidence)
MMAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • methylmalonic aciduria, cblB type MONDO:0009614
Tags
Green Green List (high evidence)
MMAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • methylmalonic aciduria, cblB type MONDO:0009614
Tags
  • treatable
Green Green List (high evidence)
MMAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Tags
  • treatable
Green Green List (high evidence)
MMACHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
  • Disorders of cobalamin absorption, transport and metabolism
Tags
  • treatable
Green Green List (high evidence)
MMACHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • methylmalonic aciduria and homocystinuria type cblC MONDO:0010184
Tags
Green Green List (high evidence)
MMADHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Homocystinuria, cblD type, variant 1 MIM#277410
  • Methylmalonic aciduria and homocystinuria, cblD type MIM#277410
  • Methylmalonic aciduria, cblD type, variant 2 MIM#277410
  • Disorders of cobalamin absorption, transport and metabolism
Tags
  • treatable
Green Green List (high evidence)
MMADHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • methylmalonic aciduria and homocystinuria type cblD MONDO:0010185
Tags
  • treatable
Green Green List (high evidence)
MNX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related
Tags
Green Green List (high evidence)
MOCOS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of molybdenum cofactor metabolism
  • xanthinuria type II MONDO:0011346
Tags
Green Green List (high evidence)
MOCS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of molybdenum cofactor metabolism
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643
Tags
Green Green List (high evidence)
MOCS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Molybdenum cofactor deficiency A MIM#252150
  • Disorders of molybdenum cofactor metabolism
Tags
  • treatable
Green Green List (high evidence)
MOCS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Molybdenum cofactor deficiency B MIM#252160
  • Disorders of molybdenum cofactor metabolism
Tags
Green Green List (high evidence)
MOCS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644
  • Disorders of molybdenum cofactor metabolism
Tags
Green Green List (high evidence)
MOGS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIb, MIM# 606056
Tags
Green Green List (high evidence)
MORC2
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
  • Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688.
Tags
Green Green List (high evidence)
MPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial pyruvate carrier deficiency, MIM# 614741
Tags
Green Green List (high evidence)
MPDU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type If, MIM# 609180
  • MPDU1-CDG, MONDO:0012211
Tags
Green Green List (high evidence)
MPI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ib, MIM# 602579
  • MPI-CDG MONDO:0011257
Tags
Green Green List (high evidence)
MPV17
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MRM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 17, MIM# 618567
Tags
Green Green List (high evidence)
MRPL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 9
  • OMIM #614582
Tags
Green Green List (high evidence)
MRPL39
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646
Tags
Green Green List (high evidence)
MRPL44
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 16, MIM# 615395
Tags
Green Green List (high evidence)
MRPL49
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 60, MIM# 621195
Tags
Green Green List (high evidence)
MRPS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 36, MIM# 617950
Tags
Green Green List (high evidence)
MRPS22
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 5, MIM# 611719
Tags
Green Green List (high evidence)
MRPS23
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Hepatic disease
  • Combined respiratory chain complex deficiencies
  • Cardiomyopathy
  • Tubulopathy
  • Lactic acidosis
  • Structural brain abnormalities
  • Combined oxidative phosphorylation deficiency 46, MIM618952
Tags
Green Green List (high evidence)
MRPS34
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 32, MIM# 617664
Tags
Green Green List (high evidence)
MSMO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
  • Disorders of the metabolism of sterols
  • MONDO:0014793
Tags
Green Green List (high evidence)
MSTO1
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, mitochondrial, and ataxia, MIM# 617675
Tags
Green Green List (high evidence)
MT-ATP6
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-ATP8
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Tags
  • mtDNA
Green Green List (high evidence)
MT-CO1
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber's optic atrophy
  • Sideroblastic anaemia
  • Cytochrome c oxidase deficiency
  • Myoglobinuria
Tags
  • mtDNA
Green Green List (high evidence)
MT-CO2
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-CO3
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leigh syndrome
  • Leigh-like syndrome
  • Myopathy
  • Encephalopathy and myopathy
Tags
Green Green List (high evidence)
MT-CYB
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-ND1
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-ND2
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-ND2-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-ND3
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-ND3-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-ND4
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-ND4-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-ND5
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-ND5-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-ND6
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-ND6-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-RNR1
2 reviews
2 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-RNR1-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TA
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TA-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TD
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TD-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TE
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TE-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TF
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TF-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TG
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TG-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TH
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TH-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TI
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TI-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TK
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • MERRF
  • Encephalopathy
  • Deafness
  • Cardiomyopathy
Tags
  • mtDNA
Green Green List (high evidence)
MT-TL1
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TL1-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TL2
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TL2-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TM
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • mitochondrial disease (MONDO:0044970), MT-TM-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TN
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial myopathy
Tags
Green Green List (high evidence)
MT-TP
2 reviews
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Red
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TP-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TR
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • mitochondrial disease (MONDO:0044970), MT-TR-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TS1
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TS1-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TS2
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TS2-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TT
2 reviews
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TT-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TV
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TV-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TW
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TW-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TY
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TY-related
Tags
  • mtDNA
  • somatic
Green Green List (high evidence)
MTFMT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 15, MIM# 614947
  • Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248
Tags
Green Green List (high evidence)
MTHFD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060611
  • Disorders of folate metabolism
Tags
Green Green List (high evidence)
MTHFR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Homocystinuria due to MTHFR deficiency MIM#236250
  • Disorders of folate metabolism and transport
Tags
Green Green List (high evidence)
MTHFR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353
  • Disorders of folate metabolism
Tags
Green Green List (high evidence)
MTHFR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353
Tags
Green Green List (high evidence)
MTO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 10, OMIM #614702
Tags
Green Green List (high evidence)
MTPAP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Spastic ataxia 4, autosomal recessive 613672
  • Lethal encephalopathy
Tags
  • founder
Green Green List (high evidence)
MTR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940
  • Organic aciduria
Tags
Green Green List (high evidence)
MTR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • methylcobalamin deficiency type cblG MONDO:0009609
Tags
Green Green List (high evidence)
MTRR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type MIM#236270
  • Disorders of the metabolism of sulphur amino acids
Tags
Green Green List (high evidence)
MTRR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • methylcobalamin deficiency type cblE MONDO:0009354
Tags
Green Green List (high evidence)
MTRR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type MIM#236270
  • Disorders of the metabolism of sulphur amino acids
Tags
Green Green List (high evidence)
MTTP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Abetalipoproteinemia MIM#200100
  • Inherited hypolipidaemias
Tags
  • treatable
Green Green List (high evidence)
MUT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, mut(0) type 251000
Tags
Green Green List (high evidence)
MUT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612
Tags
Green Green List (high evidence)
MUT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612
Tags
Green Green List (high evidence)
MVK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mevalonic aciduria MIM#610377
  • Disorders of sterol biosynthesis
Tags
Green Green List (high evidence)
NADK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Tags
Green Green List (high evidence)
NADK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Tags
Green Green List (high evidence)
NADK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of niacin and NAD metabolism
  • 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Tags
Green Green List (high evidence)
NAGA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kanzaki disease, MIM# 609242
  • Schindler disease, type I and type II 609241
  • alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
Tags
Green Green List (high evidence)
NAGLU
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
  • MONDO:0009656
  • Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491
  • MONDO:0014665
Tags
Green Green List (high evidence)
NAGS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • N-acetylglutamate synthase deficiency 237310
Tags
Green Green List (high evidence)
NAGS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377
Tags
Green Green List (high evidence)
NARS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 24 - MIM#616239
  • Deafness, autosomal recessive 94 - MIM#618434
Tags
Green Green List (high evidence)
NAXD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Tags
Green Green List (high evidence)
NAXD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of niacin and NAD metabolism
  • Mitochondrial disease MONDO:0044970
Tags
Green Green List (high evidence)
NAXE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Tags
Green Green List (high evidence)
NAXE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Apolipoprotein A-I binding protein deficiency
  • Disorders of niacin and NAD metabolism
Tags
Green Green List (high evidence)
NDUFA1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
NDUFA10
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Tags
Green Green List (high evidence)
NDUFA12
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 23 618244
Tags
Green Green List (high evidence)
NDUFA13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249
Tags
Green Green List (high evidence)
NDUFA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Tags
Green Green List (high evidence)
NDUFA4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Leigh syndrome
  • Complex IV deficiency
Tags
Green Green List (high evidence)
NDUFA6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253
Tags
Green Green List (high evidence)
NDUFA9
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 26
Tags
Green Green List (high evidence)
NDUFAF1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Tags
Green Green List (high evidence)
NDUFAF2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Tags
Green Green List (high evidence)
NDUFAF3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Tags
Green Green List (high evidence)
NDUFAF4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Tags
Green Green List (high evidence)
NDUFAF5
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
NDUFAF6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)
Tags
Green Green List (high evidence)
NDUFAF8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leigh syndrome
Tags
Green Green List (high evidence)
NDUFB10
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • fatal infantile lactic acidosis
  • cardiomyopathy
  • Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003
Tags
Green Green List (high evidence)
NDUFB11
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952)
  • MONDO:0010494
  • Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021)
  • MONDO:0026721
Tags
Green Green List (high evidence)
NDUFB3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246
  • MONDO:0032629
Tags
Green Green List (high evidence)
NDUFB8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252
Tags
Green Green List (high evidence)
NDUFS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Tags
Green Green List (high evidence)
NDUFS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Tags
Green Green List (high evidence)
NDUFS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Tags
Green Green List (high evidence)
NDUFS4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 1, 252010
  • Leigh syndrome, MIM#252010
Tags
Green Green List (high evidence)
NDUFS6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Tags
Green Green List (high evidence)
NDUFS7
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
NDUFS8
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
NDUFV1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
NDUFV2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)
Tags
  • deep intronic
  • founder
Green Green List (high evidence)
NEU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sialidosis, type I and type II, MIM# 256550
  • MONDO:0009738
Tags
Green Green List (high evidence)
NEUROD1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • maturity-onset diabetes of the young type 6 MONDO:0011668
Tags
Green Green List (high evidence)
NEUROG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • congenital malabsorptive diarrhea 4 MONDO:0012479
Tags
Green Green List (high evidence)
NFE2L2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591
  • Disorders of glutathione metabolism
Tags
Green Green List (high evidence)
NFS1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 52, MIM#619386
  • Complex II/III deficiency
  • multisystem organ failure
Tags
Green Green List (high evidence)
NFU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Tags
Green Green List (high evidence)
NGLY1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of deglycosylation, MIM# 615273
  • alacrima, movement disorder, microcephaly, abnormal LFTs
Tags
Green Green List (high evidence)
NHLRC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
Green Green List (high evidence)
NKX2-2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Tags
Green Green List (high evidence)
NMNAT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of niacin and NAD metabolism
  • Leber congenital amaurosis 9 MONDO:0012056
Tags
Green Green List (high evidence)
NNT
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736
Tags
Green Green List (high evidence)
NNT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of niacin and NAD metabolism
  • glucocorticoid deficiency 4 MONDO:0013874
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-Pick disease, type C1 and type D, MIM# 257220
  • MONDO:0009757
Tags
Green Green List (high evidence)
NPC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-pick disease, type C2, MIM# 607625
  • MONDO:0011873
Tags
Green Green List (high evidence)
NR1H4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of bile acid metabolism
  • cholestasis, progressive familial intrahepatic, 5 MONDO:0014884
Tags
Green Green List (high evidence)
NSDHL
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
  • NHS GMS
Phenotypes
  • CHILD syndrome MIM#308050
  • Disorders of sterol biosynthesis
Tags
Green Green List (high evidence)
NSUN3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 48, MIM# 619012
Tags
Green Green List (high evidence)
NT5C3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Anemia, hemolytic, due to UMPH1 deficiency MIM#266120
  • disorder of pyrimidine metabolism
Tags
Green Green List (high evidence)
NT5C3A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • disorder of pyrimidine metabolism
  • Anemia, hemolytic, due to UMPH1 deficiency MIM#266120
Tags
Green Green List (high evidence)
NT5E
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • hereditary arterial and articular multiple calcification syndrome MONDO:0008895
Tags
Green Green List (high evidence)
NUBPL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Tags
Green Green List (high evidence)
OAS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840
Tags
Green Green List (high evidence)
OAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Tags
Green Green List (high evidence)
OAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • ornithine aminotransferase deficiency MONDO:0009796
Tags
Green Green List (high evidence)
OGDH
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oxoglutarate dehydrogenase deficiency, MIM# 203740
  • Developmental delay
  • ataxia
  • seizure
  • raised lactate
Tags
Green Green List (high evidence)
OGT
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mental retardation, X-linked 106, MIM# 300997
Tags
Green Green List (high evidence)
ONECUT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic diabetes
  • Neonatal diabetes mellitus MONDO:0016391
Tags
Green Green List (high evidence)
OPA1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
OPA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria type 3 MONDO:0009787
Tags
Green Green List (high evidence)
OPA3
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR
  • Optic atrophy 3 with cataract (MIM#165300), AD
Tags
Green Green List (high evidence)
OTC
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
  • Genomics England PanelApp
Phenotypes
  • Ornithine transcarbamylase deficiency, 311250
Tags
Green Green List (high evidence)
OTC
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
  • Other
Phenotypes
  • ornithine carbamoyltransferase deficiency MONDO:0010703
Tags
Green Green List (high evidence)
OXCT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Tags
Green Green List (high evidence)
OXCT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Tags
Green Green List (high evidence)
PAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • phenylketonuria MONDO:0009861
Tags
Green Green List (high evidence)
PAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Phenylketonuria MIM#261600
  • Disorders of phenylalanine or tyrosine metabolism
Tags
  • treatable
Green Green List (high evidence)
PAM16
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223
  • Disorders of mitochondrial protein import
Tags
Green Green List (high evidence)
PANK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • pantothenate kinase-associated neurodegeneration MONDO:0009319
  • Disorders of pantothenate and CoA metabolism
Tags
Green Green List (high evidence)
PANK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • HARP syndrome MIM#607236
  • Neurodegeneration with brain iron accumulation 1 MIM#234200
Tags
Green Green List (high evidence)
PARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Epileptic encephalopathy, early infantile, 75, MIM# 618437
Tags
Green Green List (high evidence)
PC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pyruvate carboxylase deficiency 266150
Tags
Green Green List (high evidence)
PC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pyruvate carboxylase deficiency, MIM# 266150
Tags
Green Green List (high evidence)
PCBD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D, 264070
  • Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Tags
Green Green List (high evidence)
PCBD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908
Tags
Green Green List (high evidence)
PCCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Propionicacidemia 606054
Tags
  • treatable
Green Green List (high evidence)
PCCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • propionic acidemia MONDO:0011628
Tags
  • treatable
Green Green List (high evidence)
PCCB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Propionicacidemia 606054
Tags
  • treatable
Green Green List (high evidence)
PCCB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • propionic acidemia MONDO:0011628
Tags
  • treatable
Green Green List (high evidence)
PCK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680
  • Disorders of gluconeogenesis
Tags
Green Green List (high evidence)
PCSK9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hypercholesterolemia
Tags
Green Green List (high evidence)
PDE12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial disease MONDO:0044970, PDE12-related
Tags
Green Green List (high evidence)
PDHA1
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
Tags
Green Green List (high evidence)
PDHB
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
PDHX
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
PDIA6
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multiple congenital anomalies, MONDO:0019042, PDIA6-related
Tags
Green Green List (high evidence)
PDK3
3 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905
Tags
Green Green List (high evidence)
PDP1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PDSS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Coenzyme Q10 deficiency, primary, 2 MIM#614651
Tags
Green Green List (high evidence)
PDSS2
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
PDX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • maturity-onset diabetes of the young type 4 MONDO:0011667
Tags
Green Green List (high evidence)
PDXK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511
  • Disorders of pyridoxine metabolism
Tags
Green Green List (high evidence)
PEPD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Prolidase deficiency MONDO:0008221
Tags
Green Green List (high evidence)
PEPD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Prolidase deficiency MIM#170100
  • disorders of peptide metabolism
Tags
Green Green List (high evidence)
PET100
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Tags
  • founder
Green Green List (high evidence)
PEX1
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX10
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX11B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 14B - MIM#614920
Tags
Green Green List (high evidence)
PEX12
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX13
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX14
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
Tags
Green Green List (high evidence)
PEX16
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX19
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX2
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX26
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX3
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110
  • Peroxisome biogenesis disorder 2B, MIM# 202370
  • Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716
Tags
Green Green List (high evidence)
PEX6
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 9B, MIM# 614879
  • Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Tags
Green Green List (high evidence)
PFKM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease VII (MIM#232800)
Tags
Green Green List (high evidence)
PGAM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease X, MIM# 261670
Tags
Green Green List (high evidence)
PGAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Tags
Green Green List (high evidence)
PGAP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Tags
Green Green List (high evidence)
PGK1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphoglycerate kinase 1 deficiency, MIM# 300653
  • MONDO:0010392
Tags
Green Green List (high evidence)
PGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type It 614921
Tags
  • treatable
Green Green List (high evidence)
PGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type It 614921
  • Glycogen storage disorder XIV
Tags
  • treatable
Green Green List (high evidence)
PGM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 23, MIM# 615816
  • PGM3-CDG, MONDO:0014353
Tags
Green Green List (high evidence)
PHGDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neu-Laxova syndrome 1 256520
  • Phosphoglycerate dehydrogenase deficiency 601815
Tags
Green Green List (high evidence)
PHGDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • neurometabolic disorder due to serine deficiency MONDO:0018162
Tags
Green Green List (high evidence)
PHKA1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscle glycogenosis, MIM# 300559
Tags
Green Green List (high evidence)
PHKA2
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PHKB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
  • Glycogen storage disease IXb, MONDO:0009868
Tags
Green Green List (high evidence)
PHKG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease IXc, MIM# 613027
Tags
Green Green List (high evidence)
PHYH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Refsum disease, MIM# 266500
Tags
Green Green List (high evidence)
PIGA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Tags
Green Green List (high evidence)
PIGA
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072
Tags
Green Green List (high evidence)
PIGB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 80 618580
Tags
Green Green List (high evidence)
PIGH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010
Tags
Green Green List (high evidence)
PIGK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Tags
Green Green List (high evidence)
PIGL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CHIME syndrome, MIM# 280000, MONDO:0010221
Tags
  • founder
  • SV/CNV
Green Green List (high evidence)
PIGN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Tags
  • founder
  • SV/CNV
Green Green List (high evidence)
PIGO
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Tags
Green Green List (high evidence)
PIGP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 55, MIM# 617599
Tags
Green Green List (high evidence)
PIGS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 18 618143
Tags
Green Green List (high evidence)
PIGT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Tags
Green Green List (high evidence)
PIGV
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Tags
Green Green List (high evidence)
PIK3R1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SHORT syndrome MONDO:0010026
  • Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, MIM#269880
Tags
Green Green List (high evidence)
PINK1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Parkinson disease 6, early onset, MIM# 605909
Tags
Green Green List (high evidence)
PITRM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia-30 (SCAR30), MIM#619405
  • intellectual disability
  • cognitive decline
  • psychosis
Tags
Green Green List (high evidence)
PLA2G6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile neuroaxonal dystrophy 1 MIM#256600
  • Neurodegeneration with brain iron accumulation 2B MIM#610217
  • Parkinson disease 14, autosomal recessive MIM#612953
Tags
Green Green List (high evidence)
PLPBP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • pyridoxine-dependent epilepsy MONDO:0009945
  • Disorders of pyridoxine metabolism
Tags
Green Green List (high evidence)
PMM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
PMPCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Tags
Green Green List (high evidence)
PMPCB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PNLIP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pancreatic lipase deficiency MIM#614338
  • disorders of lipid and lipoprotein metabolism
Tags
Green Green List (high evidence)
PNP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
PNP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
Tags
Green Green List (high evidence)
PNPLA8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related
  • Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Tags
Green Green List (high evidence)
PNPO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyridoxal phosphate-responsive seizures MONDO:0012407
  • Disorders of pyridoxine metabolism
Tags
Green Green List (high evidence)
PNPO
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Tags
Green Green List (high evidence)
PNPT1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 13 (MIM#614932)
  • Deafness, autosomal recessive 70 (MIM#614934)
Tags
Green Green List (high evidence)
POC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, POC5-related
Tags
Green Green List (high evidence)
POLD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
POLG2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131
  • Mitochondrial DNA depletion syndrome 16 , MIM# 618528
Tags
Green Green List (high evidence)
POLRMT
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 55, MIM# 619743
  • intellectual disability
  • hypotonia
Tags
Green Green List (high evidence)
POMGNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy caused by variation in POMGNT1 MONDO:0700068
Tags
Green Green List (high evidence)
POMGNT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy caused by variation in POMGNT2 MONDO:0700069
Tags
Green Green List (high evidence)
POMK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
POMT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy caused by variation in POMT1 MONDO:0700070
Tags
Green Green List (high evidence)
POMT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Tags
Green Green List (high evidence)
POR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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)
PPA2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PPARG
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Insulin resistance, severe, digenic
  • FPLD3
  • Obesity, severe, 601665
  • {Diabetes, type 2}, 125853
  • Lipodystrophy, familial partial, type 3
  • Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension
  • Insulin resistance, severe, digenic 604367
  • [Obesity, resistance to]
  • Lipodystrophy, familial partial, type 3, 604367
  • Insulin resistance, severe, digenic, 604367
  • Lipodystrophy, familial partial, type 3 604367
  • LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
  • Carotid intimal medial thickness 1, 609338
Tags
Green Green List (high evidence)
PPCS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 2C, MIM# 618189
Tags
Green Green List (high evidence)
PPOX
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Porphyria variegata MIM#176200
Tags
Green Green List (high evidence)
PPOX
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria variegata, MIM# 176200
  • Variegate porphyria, childhood-onset, MIM# 620483
Tags
Green Green List (high evidence)
PPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1, MIM# 256730
  • MONDO:0009744
Tags
Green Green List (high evidence)
PRDX1
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • methylmalonic aciduria and homocystinuria type cblC MONDO:0010184
Tags
  • digenic
Green Green List (high evidence)
PRDX3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Cerebellar ataxia MONDO:0000437, PRDX3-related
Tags
Green Green List (high evidence)
PREPL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 22 MIM#616224
  • hypotonia-cystinuria syndrome
  • Disorders of amino acid transport
Tags
  • SV/CNV
Green Green List (high evidence)
PRKAG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease of heart, lethal congenital, MIM# 261740
Tags
Green Green List (high evidence)
PRKN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial protein quality control
  • Parkinson disease MONDO:0005180
Tags
Green Green List (high evidence)
PRODH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • hyperprolinemia type 1 MONDO:0009400
Tags
Green Green List (high evidence)
PRODH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperprolinemia, type I 239500
  • Proline oxidase deficiency
Tags
Green Green List (high evidence)
PRPS1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
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)
PRPS1
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • PRPS1 deficiency disorder MONDO:0100061
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
PSAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined SAP deficiency, MIM# 611721
  • Encephalopathy due to prosaposin deficiency, MONDO:0012719
  • Krabbe disease, atypical, MIM# 611722
  • MONDO:0012720
  • Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900
  • MONDO:0009590
  • Gaucher disease, atypical, MIM# 610539
  • MONDO:0012517
Tags
Green Green List (high evidence)
PSAT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • neurometabolic disorder due to serine deficiency MONDO:0018162
Tags
Green Green List (high evidence)
PSAT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Phosphoserine aminotransferase deficiency MIM#610992
  • Neu-Laxova syndrome 2 MIM#616038
Tags
Green Green List (high evidence)
PSPH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Phosphoserine phosphatase deficiency MIM#614023
  • Disorders of serine, glycine or glycerate metabolism
Tags
Green Green List (high evidence)
PSPH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • neurometabolic disorder due to serine deficiency MONDO:0018162
Tags
Green Green List (high evidence)
PTCD3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency-51, MIM#619057
  • Mental retardation
  • optic atrophy
  • Leigh-like syndrome
Tags
Green Green List (high evidence)
PTF1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069
Tags
Green Green List (high evidence)
PTPMT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199
Tags
Green Green List (high evidence)
PTRH2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Miscellaneous disorders associated with mitochondrial dysfunction
  • neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012
Tags
Green Green List (high evidence)
PTS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • BH4-deficient hyperphenylalaninemia A MONDO:0009863
Tags
Green Green List (high evidence)
PTS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Tags
  • treatable
Green Green List (high evidence)
PUS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Tags
Green Green List (high evidence)
PYCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB MIM#612940
  • Cutis laxa, autosomal recessive, type IIIB MIM#614438
  • Disorders of ornithine or proline metabolism
Tags
Green Green List (high evidence)
PYCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • autosomal recessive cutis laxa type 2B MONDO:0013051
Tags
Green Green List (high evidence)
PYCR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hypomyelinating leukodystrophy 10 MONDO:0014632
  • Disorders of ornithine, proline and hydroxyproline metabolism
Tags
Green Green List (high evidence)
PYGL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease VI, MIM# 232700
Tags
Green Green List (high evidence)
PYGM
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • McArdle disease, MIM# 232600
  • Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD
Tags
Green Green List (high evidence)
PYGM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • McArdle disease 232600
Tags
Green Green List (high evidence)
QARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Tags
Green Green List (high evidence)
QDPR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • dihydropteridine reductase deficiency MONDO:0009862
Tags
Green Green List (high evidence)
QDPR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Tags
  • treatable
Green Green List (high evidence)
QRSL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 40 MIM#618835
Tags
Green Green List (high evidence)
RAB7A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • Charcot-Marie-Tooth disease type 2 MONDO:0018993
Tags
Green Green List (high evidence)
RANBP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Tags
Green Green List (high evidence)
RARS2
2 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RBCK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895
Tags
Green Green List (high evidence)
RBP4
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Other disorders of vitamin metabolism
  • microphthalmia, isolated, with coloboma 10 MONDO:0014635
Tags
Green Green List (high evidence)
RBP4
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microphthalmia, isolated, with coloboma 10, MIM# 616428
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147
Tags
Green Green List (high evidence)
RDH12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 13 MONDO:0012990
  • Other disorders of vitamin metabolism
Tags
Green Green List (high evidence)
RDH5
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fundus albipunctatus
  • Other disorders of vitamin metabolism
Tags
Green Green List (high evidence)
RFT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type In, MIM# 612015
  • RFT1-CDG, MONDO:0012783
Tags
Green Green List (high evidence)
RFX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitchell-Riley syndrome, 615710
  • Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities
  • recessive syndromic diabetes and autosomal dominant MODY
Tags
Green Green List (high evidence)
RLBP1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Other disorders of vitamin metabolism
  • RLBP1-related retinopathy MONDO:0100444
Tags
Green Green List (high evidence)
RMND1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 11 MIM#614922
Tags
Green Green List (high evidence)
RMRP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of ribosomal biogenesis
  • cartilage-hair hypoplasia MONDO:0009595
Tags
  • non-coding gene
Green Green List (high evidence)
RNASEH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479
Tags
Green Green List (high evidence)
RNASEH2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • Aicardi-Goutieres syndrome MONDO:0018866
Tags
Green Green List (high evidence)
RNASEH2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • Aicardi-Goutieres syndrome MONDO:0018866
Tags
Green Green List (high evidence)
RNASEH2C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • Aicardi-Goutieres syndrome MONDO:0018866
Tags
Green Green List (high evidence)
RNASET2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • cystic leukoencephalopathy without megalencephaly MONDO:0013058
Tags
Green Green List (high evidence)
RNF213
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Moyamoya disease, MONDO:0016820
  • pediatric arterial ischemic stroke, MONDO:0018585
Tags
Green Green List (high evidence)
RPE65
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of vitamin A metabolism
  • RPE65-related recessive retinopathy MONDO:0100368
Tags
Green Green List (high evidence)
RPIA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ribose 5-phosphate isomerase deficiency, MIM# 608611
  • Leukoencephalopathy
Tags
Green Green List (high evidence)
RRM2B
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RTN4IP1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
SACS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Tags
Green Green List (high evidence)
SAMHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial nucleotide pool maintenance
  • Aicardi-Goutieres syndrome MONDO:0018866
Tags
Green Green List (high evidence)
SAR1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chylomicron retention disease, MIM# 246700
Tags
Green Green List (high evidence)
SAR1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Chylomicron retention disease, MIM# 246700
Tags
Green Green List (high evidence)
SARS2
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SC5D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Lathosterolosis, MIM# 607330
Tags
Green Green List (high evidence)
SCARB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • action myoclonus-renal failure syndrome MONDO:0009699
  • Other disorders of complex molecule degradation
Tags
Green Green List (high evidence)
SCO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048
Tags
Green Green List (high evidence)
SCO2
2 reviews
1 green 		Unknown
Sources
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
SDHA
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SDHAF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Tags
Green Green List (high evidence)
SDHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224
  • Complex II deficiency
  • mitochondrial leucoencephalopathy
Tags
Green Green List (high evidence)
SDHD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
Tags
Green Green List (high evidence)
SEC23B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyserythropoietic anemia, congenital, type II 224100
  • COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Tags
Green Green List (high evidence)
SECISBP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • thyroid hormone metabolism, abnormal 1 MONDO:0800046
  • Other disorders of trace element metabolism
Tags
Green Green List (high evidence)
SELENBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144
Tags
Green Green List (high evidence)
SEPSECS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • pontocerebellar hypoplasia type 2D MONDO:0013438
  • Other disorders of trace element metabolism
Tags
Green Green List (high evidence)
SERAC1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
SERAC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • MEGDHEL syndrome
  • MEGDEL syndrome
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
  • Hypoglycemia
Tags
Green Green List (high evidence)
SERAC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875
Tags
Green Green List (high evidence)
SFXN4
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
SGSH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
  • MONDO:0009655
Tags
Green Green List (high evidence)
SHMT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866
Tags
Green Green List (high evidence)
SHMT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121
  • Congenital microcephaly
  • Infantile axial hypotonia
  • Spastic paraparesis
  • Global developmental delay
  • Intellectual disability
  • Abnormality of the corpus callosum
  • Abnormal cortical gyration
  • Hypertrophic cardiomyopathy
  • Abnormality of the face
  • Proximal placement of thumb
  • 2-3 toe syndactyly
Tags
Green Green List (high evidence)
SI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Sucrase-isomaltase deficiency, congenital, MIM# 222900
Tags
Green Green List (high evidence)
SLC10A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial hypercholanemia-2, MIM#619256
Tags
Green Green List (high evidence)
SLC10A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363
Tags
Green Green List (high evidence)
SLC11A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • AHMIO1
  • 206100 Anemia, hypochromic microcytic, with iron overload 1
  • AHMIO1 DMT1-related anemia
  • 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
  • DMT1-related anemia
Tags
Green Green List (high evidence)
SLC12A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of magnesium metabolism
  • Gitelman syndrome MONDO:0009904
Tags
Green Green List (high evidence)
SLC16A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Monocarboxylate transporter 1 deficiency, MIM# 616095
Tags
Green Green List (high evidence)
SLC17A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Salla disease 604369
  • MONDO:0011449
  • Sialic acid storage disorder, infantile 269920
  • MONDO:0010027
Tags
  • founder
Green Green List (high evidence)
SLC18A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Parkinsonism-dystonia, infantile, 2, MIM# 618049
Tags
Green Green List (high evidence)
SLC19A2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC19A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Tags
Green Green List (high evidence)
SLC19A3
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC1A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • developmental and epileptic encephalopathy, 41 MONDO:0014916
Tags
Green Green List (high evidence)
SLC1A3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • episodic ataxia type 6 MONDO:0012982
Tags
Green Green List (high evidence)
SLC1A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725
Tags
Green Green List (high evidence)
SLC22A12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hereditary renal hypouricemia MONDO:0009071
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
SLC22A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine deficiency, systemic primary, MIM# 212140
Tags
  • treatable
Green Green List (high evidence)
SLC22A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
SLC22A5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Carnitine deficiency, systemic primary MIM#212140
Tags
  • treatable
Green Green List (high evidence)
SLC25A1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC25A12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 39, MIM# 612949
Tags
Green Green List (high evidence)
SLC25A13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Citrullinemia, adult-onset type II 603471
Tags
Green Green List (high evidence)
SLC25A13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • citrin deficiency MONDO:0016602
Tags
Green Green List (high evidence)
SLC25A15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
Tags
Green Green List (high evidence)
SLC25A15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • ornithine translocase deficiency MONDO:0009393 (HHH Syndrome)
Tags
Green Green List (high evidence)
SLC25A19
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC25A20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency, MIM# 212138
Tags
  • treatable
Green Green List (high evidence)
SLC25A20
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency MIM#212138
Tags
  • treatable
Green Green List (high evidence)
SLC25A20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency 212138
Tags
  • treatable
Green Green List (high evidence)
SLC25A22
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Developmental and epileptic encephalopathy MONDO:0100062
Tags
Green Green List (high evidence)
SLC25A24
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Fontaine progeroid syndrome MIM#612289
Tags
Green Green List (high evidence)
SLC25A26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 28, MIM# 616794
Tags
Green Green List (high evidence)
SLC25A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial phosphate carrier deficiency, MIM# 610773
Tags
Green Green List (high evidence)
SLC25A32
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Exercise intolerance, riboflavin-responsive, MONDO:0014795
  • Disorders of riboflavin metabolism
Tags
Green Green List (high evidence)
SLC25A32
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Exercise intolerance, riboflavin-responsive, MIM# 616839
Tags
Green Green List (high evidence)
SLC25A36
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Tags
Green Green List (high evidence)
SLC25A36
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Tags
Green Green List (high evidence)
SLC25A38
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Tags
Green Green List (high evidence)
SLC25A38
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 205950 Anemia, sideroblastic, 2, pyridoxine-refractory
  • Sideroblastic anaemia - increased serum ferritin
Tags
Green Green List (high evidence)
SLC25A4
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Tags
Green Green List (high evidence)
SLC25A42
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
Tags
  • founder
Green Green List (high evidence)
SLC25A46
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
  • Pontocerebellar hypoplasia, type 1E, MIM# 619303
Tags
Green Green List (high evidence)
SLC29A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, MIM#602782
Tags
Green Green List (high evidence)
SLC29A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • H syndrome MONDO:0011273
Tags
Green Green List (high evidence)
SLC2A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
  • GLUT1 deficiency syndrome 2, childhood onset, 612126
  • Disorders of glucose transport
Tags
Green Green List (high evidence)
SLC2A10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arterial tortuosity syndrome MONDO:0008818
  • Other disorders of vitamin metabolism
Tags
Green Green List (high evidence)
SLC2A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi-Bickel syndrome, MIM# 227810
Tags
Green Green List (high evidence)
SLC2A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi-Bickel syndrome (MIM#227810)
Tags
Green Green List (high evidence)
SLC2A9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hereditary renal hypouricemia MONDO:0009071
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
SLC30A10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hypermanganesemia syndrome MONDO:0013208
  • Disorders of magnesium metabolism
Tags
Green Green List (high evidence)
SLC30A10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280
Tags
Green Green List (high evidence)
SLC30A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Zinc deficiency, transient neonatal , MIM#608118
  • Disorders of zinc metabolism
Tags
Green Green List (high evidence)
SLC30A9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Birk-Landau-Perez syndrome (MIM#617595)
  • Disorders of zinc metabolism
Tags
Green Green List (high evidence)
SLC31A1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Tags
Green Green List (high evidence)
SLC33A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of copper metabolism
  • Huppke-Brendel syndrome MONDO:0013772
Tags
Green Green List (high evidence)
SLC35A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIf, MIM# 603585
Tags
Green Green List (high evidence)
SLC35A2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIm (MIM #300896)
Tags
Green Green List (high evidence)
SLC35A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, mental retardation, and seizures OMIM #615553
  • Skeletal dysplasia
  • Congenital disorder of glycosylation
Tags
Green Green List (high evidence)
SLC35C1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Tags
Green Green List (high evidence)
SLC35D1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Schneckenbecken dysplasia 269250, MONDO:0010013
  • O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Tags
Green Green List (high evidence)
SLC37A4
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIw, MIM# 619525
Tags
Green Green List (high evidence)
SLC37A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease Ib (MIM#232220)
  • Glycogen storage disease Ic (MIM#232240)
Tags
Green Green List (high evidence)
SLC38A8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Tags
Green Green List (high evidence)
SLC39A13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873
  • Disorders of zinc metabolism
Tags
Green Green List (high evidence)
SLC39A14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hypermanganesemia with dystonia 2 MONDO:0014864
  • Disorders of magnesium metabolism
Tags
Green Green List (high evidence)
SLC39A14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypermanganesemia with dystonia 2, MIM# 617013
Tags
Green Green List (high evidence)
SLC39A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Acrodermatitis enteropathica MIM#201100
  • (Disorder of zinc metabolism)
Tags
Green Green List (high evidence)
SLC39A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • acrodermatitis enteropathica MONDO:0008713
  • Disorders of zinc metabolism
Tags
Green Green List (high evidence)
SLC39A8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital disorder of glycosylation, type IIn , MIM#16721
Tags
Green Green List (high evidence)
SLC39A8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • SLC39A8-CDG MONDO:0014746
  • Other disorders of trace element metabolism
Tags
Green Green List (high evidence)
SLC3A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • cystinuria MONDO:0009067
Tags
Green Green List (high evidence)
SLC40A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 606069 HEMOCHROMATOSIS, TYPE 4
  • HFE4
  • 606069 Hemochromatosis, type 4
Tags
Green Green List (high evidence)
SLC40A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 4, MIM# 606069
Tags
Green Green List (high evidence)
SLC46A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Folate malabsorption, hereditary, MIM# 229050
Tags
Green Green List (high evidence)
SLC46A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hereditary folate malabsorption MONDO:0009238
  • Disorders of folate metabolism
Tags
Green Green List (high evidence)
SLC52A2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2 MIM#614707
Tags
Green Green List (high evidence)
SLC52A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-van Laere syndrome 2 MONDO:0013867
  • Disorders of riboflavin metabolism
Tags
Green Green List (high evidence)
SLC52A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Tags
Green Green List (high evidence)
SLC52A3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1 MIM#211530
Tags
Green Green List (high evidence)
SLC52A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of riboflavin metabolism
  • Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
Tags
Green Green List (high evidence)
SLC52A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Tags
Green Green List (high evidence)
SLC5A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glucose/galactose malabsorption MIM# 606824
  • (Disorders of glucose transport)
Tags
Green Green List (high evidence)
SLC5A6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Tags
Green Green List (high evidence)
SLC6A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myoclonic-atonic epilepsy MONDO:0014633
Tags
Green Green List (high evidence)
SLC6A19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Hartnup disease MONDO:0009324
Tags
Green Green List (high evidence)
SLC6A19
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hartnup disorder, MIM# 234500
  • Hyperglycinuria, MIM# 138500
  • Iminoglycinuria, MIM# 242600
Tags
Green Green List (high evidence)
SLC6A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinsonism-dystonia, infantile, 1, MIM# 613135
Tags
Green Green List (high evidence)
SLC6A5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 3, MIM# 614618
Tags
Green Green List (high evidence)
SLC6A8
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • creatine transporter deficiency MONDO:0010305
Tags
Green Green List (high evidence)
SLC6A8
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebral creatine deficiency syndrome 1, MIM# 300352
Tags
Green Green List (high evidence)
SLC6A9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Atypical glycine encephalopathy MONDO:0015010
  • Glycine neurotransmitter disorders
Tags
Green Green List (high evidence)
SLC7A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Lysinuric protein intolerance 222700
Tags
Green Green List (high evidence)
SLC7A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • lysinuric protein intolerance MONDO:0009109
Tags
Green Green List (high evidence)
SLC7A9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • cystinuria MONDO:0009067
Tags
Green Green List (high evidence)
SLCO1B1
0 reviews
 Other
Sources
  • Expert Review Green
Phenotypes
  • Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport
Tags
Green Green List (high evidence)
SLCO1B3
0 reviews
 Other
Sources
  • Expert Review Green
Phenotypes
  • Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport
Tags
Green Green List (high evidence)
SMPD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-Pick disease, type A, MIM# 257200
  • MONDO:0009756
  • Niemann-Pick disease, type B, MIM# 607616
  • MONDO:0011871
Tags
Green Green List (high evidence)
SMPD4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622
Tags
Green Green List (high evidence)
SNX14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • autosomal recessive spinocerebellar ataxia 20 MONDO:0014601
Tags
Green Green List (high evidence)
SPATA5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Tags
  • new gene name
Green Green List (high evidence)
SPG11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • hereditary spastic paraplegia 11 MONDO:0011445
Tags
Green Green List (high evidence)
SPG7
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 7, autosomal recessive, MIM# 607259
  • Autosomal dominant optic atrophy, MONDO:0020250
Tags
Green Green List (high evidence)
SPR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994
Tags
Green Green List (high evidence)
SPR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Tags
Green Green List (high evidence)
SPTLC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Tags
Green Green List (high evidence)
SPTLC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640
  • Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Tags
Green Green List (high evidence)
SRD5A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iq, MIM# 612379
  • Kahrizi syndrome, MIM# 612713
Tags
Green Green List (high evidence)
SSBP1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy with or without extraocular phenotypes
  • Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Tags
Green Green List (high evidence)
SSR4
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Iy, MIM#300934
Tags
Green Green List (high evidence)
ST3GAL3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability, autosomal recessive 12 MIM# 611090
Tags
Green Green List (high evidence)
ST3GAL5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Salt and pepper developmental regression syndrome 609056
  • GM3 synthase deficiency, MONDO:0018274
  • Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
  • founder
Green Green List (high evidence)
STAB1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperferritinemia, MIM# 620729
Tags
Green Green List (high evidence)
STAT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Immunodeficiency 44, MIM# 616636
Tags
Green Green List (high evidence)
STAT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Tags
Green Green List (high evidence)
STS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyosis, X-linked 308100
  • Sterol metabolism disorder
Tags
  • SV/CNV
Green Green List (high evidence)
STT3A
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iw, AR, OMIM #615596
  • Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Tags
Green Green List (high evidence)
SUCLA2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SUCLG1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
SUMF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Multiple sulfatase deficiency (MIM#272200)
Tags
Green Green List (high evidence)
SUOX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • isolated sulfite oxidase deficiency MONDO:0010089
Tags
Green Green List (high evidence)
SUOX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sulfite oxidase deficiency, MIM# 272300
Tags
Green Green List (high evidence)
SURF1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TACO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052
Tags
Green Green List (high evidence)
TALDO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Transaldolase deficiency , MIM#606003
Tags
Green Green List (high evidence)
TAMM41
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139
  • hypotonia
  • developmental delay
  • myopathy
  • ptosis
Tags
Green Green List (high evidence)
TANGO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Tags
Green Green List (high evidence)
TARS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 21, MIM# 615918
Tags
Green Green List (high evidence)
TAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • tyrosinemia type II MONDO:0010160
Tags
Green Green List (high evidence)
TAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tyrosinemia, type II, MIM# 276600
Tags
  • treatable
Green Green List (high evidence)
TAZ
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TAZ
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Barth syndrome, MIM# 302060
Tags
Green Green List (high evidence)
TAZ
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria MONDO:0017359
Tags
Green Green List (high evidence)
TBK1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • frontotemporal dementia with motor neuron disease MONDO:0017161
  • Disorders of autophagy
Tags
Green Green List (high evidence)
TCN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Transcobalamin II deficiency, 275350
Tags
Green Green List (high evidence)
TECPR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • hereditary spastic paraplegia 49 MONDO:0014016
Tags
Green Green List (high evidence)
TEFM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 58, MIM# 620451
Tags
Green Green List (high evidence)
TF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 209300 Atransferrinemia
  • 209300 Atransferrinemia, Hypoferritinaemia
Tags
Green Green List (high evidence)
TFAM
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
Tags
Green Green List (high evidence)
TFR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 3 604250
Tags
Green Green List (high evidence)
TFR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 604250 Hemochromatosis, type 3
  • HFE3
  • 604250 HEMOCHROMATOSIS, TYPE 3
Tags
Green Green List (high evidence)
TH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • tyrosine hydroxylase deficiency MONDO:0100064
Tags
Green Green List (high evidence)
TH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Segawa syndrome, recessive , MIM#605407
Tags
Green Green List (high evidence)
TIMM50
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • 3-methylglutaconic aciduria, type IX, MIM# 617698
Tags
Green Green List (high evidence)
TIMM8A
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TIMMDC1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 31 MIM#618251
Tags
  • deep intronic
Green Green List (high evidence)
TK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069
Tags
Green Green List (high evidence)
TMEM126A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of complex I subunits and assembly factors
  • autosomal recessive optic atrophy, OPA7 type MONDO:0013069
Tags
Green Green List (high evidence)
TMEM126B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
Tags
Green Green List (high evidence)
TMEM165
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIk, MIM# 614727
  • TMEM165-CDG, MONDO:0013870
Tags
Green Green List (high evidence)
TMEM167A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related
Tags
Green Green List (high evidence)
TMEM173
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • STING-associated vasculopathy with onset in infancy MONDO:0014405
Tags
Green Green List (high evidence)
TMEM199
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIp MIM# 616829
Tags
Green Green List (high evidence)
TMEM5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022
Tags
  • new gene name
Green Green List (high evidence)
TMEM70
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Tags
Green Green List (high evidence)
TMEM70
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TMPRSS6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • IRIDA
  • 206200 Iron-refractory iron deficiency anemia
  • 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Tags
Green Green List (high evidence)
TOP3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098
Tags
Green Green List (high evidence)
TPK1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TPP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2, MIM# 204500
  • MONDO:0008769
  • Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270
  • MONDO:0012235
Tags
Green Green List (high evidence)
TRAK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 68, MIM# 618201
Tags
Green Green List (high evidence)
TRAPPC9
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 13 MIM#613192
Tags
Green Green List (high evidence)
TREX1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750
  • Disorder of nucleotide metabolism
Tags
Green Green List (high evidence)
TREX1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorder of nucleotide metabolism
  • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750
Tags
Green Green List (high evidence)
TRIM37
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TRIT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 35, MIM#617873
Tags
Green Green List (high evidence)
TRMT10A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Tags
Green Green List (high evidence)
TRMT10C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
TRMT5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 26, MIM# 616539
Tags
Green Green List (high evidence)
TRMU
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TRNT1
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TRPM6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism
Tags
Green Green List (high evidence)
TSFM
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TTC19
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TTPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ataxia with isolated vitamin E deficiency MIM#277460
  • disorders of vitamins and cofactors
Tags
Green Green List (high evidence)
TUFM
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, OMIM #610678
  • MONDO:0012534
Tags
Green Green List (high evidence)
TUSC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615
  • TUSC3-CDG (Disorders of protein N-glycosylation)
Tags
  • SV/CNV
Green Green List (high evidence)
TWNK
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
  • Perrault syndrome 5 616138
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Tags
Green Green List (high evidence)
TYMP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Tags
Green Green List (high evidence)
TYR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • oculocutaneous albinism type 1 MONDO:0018135
Tags
Green Green List (high evidence)
UBIAD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Schnyder corneal dystrophy MONDO:0007374 MIM#611632
  • Other disorders of vitamin metabolism
Tags
Green Green List (high evidence)
UGGT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IICC, MIM# 621381
Tags
Green Green List (high evidence)
UGT1A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725
Tags
Green Green List (high evidence)
UGT1A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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
Green Green List (high evidence)
UMPS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Orotic aciduria, MIM# 258900
Tags
Green Green List (high evidence)
UMPS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Orotic aciduria, MIM# 258900
Tags
Green Green List (high evidence)
UNG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hyper-IgM syndrome type 5 MONDO:0011971
  • Disorders of ectonucleotide and nucleic acid metabolism
Tags
Green Green List (high evidence)
UPB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Beta-ureidopropionase deficiency MONDO:0013164
  • Disorders of pyrimidine metabolism
Tags
Green Green List (high evidence)
UPB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Beta-ureidopropionase deficiency, MIM# 613161
Tags
Green Green List (high evidence)
UQCC2
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
Tags
Green Green List (high evidence)
UQCRB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158
Tags
Green Green List (high evidence)
UQCRC2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160
Tags
Green Green List (high evidence)
UQCRFS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial Complex III deficiency
  • lactic acidosis
  • fetal bradycardia
  • hypertrophic cardiomyopathy
  • alopecia totalis
Tags
Green Green List (high evidence)
UROD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Tags
Green Green List (high evidence)
UROS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyrias with erosive photodermatosis
  • Porphyria, congenital erythropoietic 263700
Tags
Green Green List (high evidence)
VARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 20
  • OMIM #615917
Tags
Green Green List (high evidence)
VCP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507
  • Disorders of mitochondrial protein quality control
Tags
Green Green List (high evidence)
VDR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism
Tags
Green Green List (high evidence)
VIPAS39
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Tags
Green Green List (high evidence)
VKORC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0011837
  • Other disorders of vitamin metabolism
Tags
Green Green List (high evidence)
VMA21
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, X-linked, with excessive autophagy (MIM#310440)
Tags
Green Green List (high evidence)
VPS13C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Early-onset Parkinson disease-23, MIM# 616840
Tags
Green Green List (high evidence)
VPS16
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
Tags
Green Green List (high evidence)
VPS33A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis-plus syndrome (MIM#617303)
Tags
Green Green List (high evidence)
VPS33B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Tags
Green Green List (high evidence)
WARS2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WDR45
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
Phenotypes
  • Disorders of autophagy
  • X-linked complex neurodevelopmental disorder MONDO:0100148
Tags
Green Green List (high evidence)
WDR45
2 reviews
2 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
  • Expert list
Phenotypes
  • Neurodegeneration with brain iron accumulation 5, MIM# 300894
Tags
Green Green List (high evidence)
WFS1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Wolfram-like syndrome, autosomal dominant, 614296
  • Wolfram syndrome, 222300
  • Deafness, autosomal dominant 6/14/38, 600965
  • ?Cataract 41,116400
  • {Diabetes mellitus, noninsulin-dependent, association with}, 125853
  • Deafness,autosomal dominant 6/14/38, 600965
  • {Diabetes mellitus, noninsulin-dependent,association with}
  • diabetes insipidus or optic atrophy
Tags
Green Green List (high evidence)
XDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • xanthinuria type I MONDO:0010209
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
XPNPEP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Nephronophthisis-like nephropathy 1 MONDO:0013163
Tags
Green Green List (high evidence)
XYLT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Desbuquois dysplasia 2, MIM# 615777
  • Baratela-Scott syndrome
Tags
  • STR
  • SV/CNV
Green Green List (high evidence)
XYLT1_DBQD2_GGC
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Desbuquois dysplasia 2 MIM#615777
Tags
Green Green List (high evidence)
XYLT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloocular syndrome MIM# 605822
Tags
Green Green List (high evidence)
YARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561
  • sideroblastic anaemia
  • muscle atrophy
  • myopathy
  • lactic acidosis
  • Hypertrophic cardiomyopathy
  • Hepatomegaly
  • Decreased cytochrome C oxidase activity
Tags
Green Green List (high evidence)
YIPF5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Tags
Green Green List (high evidence)
ZBTB20
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primrose syndrome MONDO:0009798
  • Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)
  • Primrose syndrome, 259050
Tags
Green Green List (high evidence)
ZFP57
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, transient neonatal, 1, MIM#601410
Tags
Green Green List (high evidence)
ZFYVE26
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • hereditary spastic paraplegia 15 MONDO:0010044
Tags
Green Green List (high evidence)
ZMPSTE24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, 608612
Tags
Green Green List (high evidence)
ZNF808
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pancreatic agenesis 3, MIM# 620991
Tags
Amber Amber List (moderate evidence)
AASS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperlysinemia, MIM# 238700
Tags
  • disputed
Amber Amber List (moderate evidence)
ACADS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
  • MONDO:0008722
Tags
Amber Amber List (moderate evidence)
ACADS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
  • MONDO:0008722
Tags
Amber Amber List (moderate evidence)
ACSF3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Combined malonic and methylmalonic aciduria MIM#614265
Tags
Amber Amber List (moderate evidence)
AP5B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related
Tags
Amber Amber List (moderate evidence)
APOO
3 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, APOO-related
  • Developmental delay
  • Lactic acidosis
  • Muscle weakness
  • Hypotonia
  • Repetitive infections
  • Cognitive impairment
  • Autistic behaviour
Tags
Amber Amber List (moderate evidence)
ATP5B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inherited dystonia, MONDO:0044807, ATP5B-related
Tags
Amber Amber List (moderate evidence)
BLVRA
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • hyperbiliverdinemia MONDO:0013595
Tags
Amber Amber List (moderate evidence)
BMP6
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • {Iron overload, susceptibility to} 620121
Tags
Amber Amber List (moderate evidence)
CD320
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646
  • Disorders of cobalamin absorption, transport and metabolism
Tags
Amber Amber List (moderate evidence)
CD320
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341
Tags
Amber Amber List (moderate evidence)
CEL
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Diabetes and pancreatic exocrine dysfunction
  • Maturity-onset diabetes of the young, type VIII, 609812
Tags
Amber Amber List (moderate evidence)
CEP89
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency
Tags
Amber Amber List (moderate evidence)
CETP
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperalphalipoproteinemia MIM#143470
  • Disorders of high density lipoprotein metabolism
Tags
Amber Amber List (moderate evidence)
CLCN7
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Tags
Amber Amber List (moderate evidence)
CMPK2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related
Tags
Amber Amber List (moderate evidence)
COG3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIbb, MIM# 620546
Tags
Amber Amber List (moderate evidence)
COX14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
Tags
Amber Amber List (moderate evidence)
COX16
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355
  • Hypertrophic cardiomyopathy
  • encephalopathy
  • severe fatal lactic acidosis
Tags
Amber Amber List (moderate evidence)
COX4I1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
  • regression
  • seizures
  • short stature
  • mild dysmorphic features
  • Fanconi anemia
Tags
Amber Amber List (moderate evidence)
COX5A
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064
  • pulmonary arterial hypertension
  • lactic acidemia
  • failure to thrive
  • isolated complex IV deficiency
Tags
Amber Amber List (moderate evidence)
CRAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation 8, MIM# 617917
  • Leigh syndrome
Tags
Amber Amber List (moderate evidence)
CREB3L3
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Hypertriglyceridaemia-2, MIM#619324
Tags
Amber Amber List (moderate evidence)
CTH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cystathioninuria MIM#219500
Tags
Amber Amber List (moderate evidence)
CYB5A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • methemoglobinemia type 4 MONDO:0009605
Tags
Amber Amber List (moderate evidence)
DCXR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pentosuria MIM#260800
  • Disorders of pentose metabolism
Tags
Amber Amber List (moderate evidence)
DYRK1B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
  • Abdominal obesity-metabolic syndrome 3, 615812
Tags
Amber Amber List (moderate evidence)
EBP
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 Amber
  • Expert Review
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant (MIM#302960)
Tags
Amber Amber List (moderate evidence)
EPHX1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Tags
Amber Amber List (moderate evidence)
ERAL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Perrault syndrome 6, MIM# 617565
Tags
Amber Amber List (moderate evidence)
EXOSC3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 1B 614678
  • Intellectual disability
  • Microcephaly
  • Hypotonia
  • Mitochondrial dysfunction
Tags
Amber Amber List (moderate evidence)
FECH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • EPP1
  • 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Tags
Amber Amber List (moderate evidence)
FICD
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Monogenic diabetes, MONDO:0015967, FICD-related
Tags
Amber Amber List (moderate evidence)
FXYD2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism
Tags
Amber Amber List (moderate evidence)
GATA1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
  • Congenital erythropoietic porphyria
Tags
Amber Amber List (moderate evidence)
GATB
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • inborn mitochondrial metabolism disorder MONDO:0004069
Tags
Amber Amber List (moderate evidence)
GGT1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Glutathioninuria MIM#231950
  • Disorders of the gamma-glutamyl cycle
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
GSR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531
  • Disorders of glutathione metabolism
Tags
Amber Amber List (moderate evidence)
HAL
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Histidinemia MIM#235800
  • Disorders of histidine, tryptophan or lysine metabolism
Tags
Amber Amber List (moderate evidence)
HYAL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IX, MIM# 601492
  • MONDO:0011093
Tags
Amber Amber List (moderate evidence)
IDH3B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Retinitis pigmentosa 46, MIM# 612572
Tags
Amber Amber List (moderate evidence)
KHK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Fructosuria MIM#229800
  • Disorders of fructose metabolism
Tags
Amber Amber List (moderate evidence)
LYRM4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 19, MIM# 615595
Tags
Amber Amber List (moderate evidence)
MAN2A2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated
Tags
Amber Amber List (moderate evidence)
MANF
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651
Tags
Amber Amber List (moderate evidence)
MARS2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 25, OMIM #616430
  • Spastic ataxia 3, autosomal recessive, OMIM #611390
Tags
Amber Amber List (moderate evidence)
MPC2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related
Tags
Amber Amber List (moderate evidence)
MRPL50
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO: 004470, MRPL50-related
Tags
Amber Amber List (moderate evidence)
MRPS14
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 38, MIM# 618378
Tags
Amber Amber List (moderate evidence)
MRPS16
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 2
  • OMIM #610498
Tags
Amber Amber List (moderate evidence)
MRPS36
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
Tags
  • new gene name
Amber Amber List (moderate evidence)
MRPS7
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 34, MIM# 617872
Tags
Amber Amber List (moderate evidence)
MT-ND4L
1 review
 MITOCHONDRIAL
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-ND4L-related
Tags
  • mtDNA
Amber Amber List (moderate evidence)
MT-TC
1 review
 MITOCHONDRIAL
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TC-related
Tags
  • mtDNA
Amber Amber List (moderate evidence)
MT-TQ
1 review
 MITOCHONDRIAL
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TQ-related
Tags
  • mtDNA
Amber Amber List (moderate evidence)
MTERF3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MTERF3-related
Tags
Amber Amber List (moderate evidence)
NDUFA11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Tags
Amber Amber List (moderate evidence)
NDUFA8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272
  • Developmental delay
  • microcehaly
  • seizures
Tags
Amber Amber List (moderate evidence)
NDUFB7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital lactic acidosis
  • hypertrophic cardiomyopathy
Tags
Amber Amber List (moderate evidence)
NDUFB9
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 24, MIM#618245
Tags
Amber Amber List (moderate evidence)
NDUFC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170
Tags
Amber Amber List (moderate evidence)
NUS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type 1aa, MIM#610463
Tags
Amber Amber List (moderate evidence)
OPLAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • 5-oxoprolinase deficiency MIM#260005
  • Disorders of the gamma-glutamyl cycle
Tags
Amber Amber List (moderate evidence)
OXA1L
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • NHS GMS
  • NHS GMS
Phenotypes
  • encephalopathy
  • hypotonia
  • developmental delay
Tags
Amber Amber List (moderate evidence)
P4HTM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
  • OMIM #618493
Tags
Amber Amber List (moderate evidence)
PCBD1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Tags
Amber Amber List (moderate evidence)
PIGM
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycosylphosphatidylinositol deficiency, MIM# 610293
  • portal vein thrombosis
  • persistent absence seizures
  • macrocephaly
  • infantile-onset cerebrovascular thrombotic events
  • portal vein thrombosis
  • persistent absence seizures
  • macrocephaly
  • infantile-onset cerebrovascular thrombotic events
Tags
  • founder
Amber Amber List (moderate evidence)
PIGU
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590
Tags
Amber Amber List (moderate evidence)
PIGW
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025
Tags
Amber Amber List (moderate evidence)
PLIN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Lipodystrophy, familial partial, type 4, 613877
  • Severe insulin resistance, partial lipodystrophy and diabetes
Tags
  • disputed
Amber Amber List (moderate evidence)
POFUT1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Dowling-Degos disease 2 (MIM# 615327)
Tags
Amber Amber List (moderate evidence)
PPM1K
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, mild variant MONDO:0014057
Tags
Amber Amber List (moderate evidence)
PPP1R15B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
Tags
Amber Amber List (moderate evidence)
RRM1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Amber
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647
Tags
Amber Amber List (moderate evidence)
SARDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sarcosinemia MIM#268900
  • Disorders of serine, glycine or glycerate metabolism
Tags
Amber Amber List (moderate evidence)
SCARB1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • High density lipoprotein cholesterol level QTL6 MIM#610762
  • Scavenger receptor class B type I deficiency
  • Inherited hypolipidaemias
Tags
Amber Amber List (moderate evidence)
SCP2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Tags
Amber Amber List (moderate evidence)
SGMS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
Tags
Amber Amber List (moderate evidence)
SHPK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sedoheptulokinase deficiency MIM#617213
Tags
Amber Amber List (moderate evidence)
SIDT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lysosomal storage disease, MONDO:0002561, SIDT2-related
Tags
Amber Amber List (moderate evidence)
SLC10A2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • bile acid malabsorption, primary, 1 MONDO:0013214
  • Disorders of bile acid metabolism
Tags
Amber Amber List (moderate evidence)
SLC1A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Dicarboxylic aminoaciduria, MIM#222730
Tags
Amber Amber List (moderate evidence)
SLC1A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • dicarboxylic aminoaciduria MONDO:0009110
Tags
Amber Amber List (moderate evidence)
SLC25A10
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Intractable epileptic encephalopathy
  • Mitochondrial DNA depletion syndrome 19, MIM# 618972
Tags
Amber Amber List (moderate evidence)
SLC25A21
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome-18 MIM#618811
Tags
Amber Amber List (moderate evidence)
SLC26A2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Skeletal dysplasia (various)
Tags
Amber Amber List (moderate evidence)
SLC36A2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperglycinuria MIM#138500
  • Iminoglycinuria, digenic MIM#242600
  • Disorders of amino acid transport
Tags
Amber Amber List (moderate evidence)
SLC39A8
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIn MIM#616721
Tags
Amber Amber List (moderate evidence)
SLC6A6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777
Tags
Amber Amber List (moderate evidence)
SLC9A7
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Intellectual developmental disorder, X-linked 108, OMIM #301024
Tags
Amber Amber List (moderate evidence)
SPNS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lysosomal disorder, SPNS1-related, MONDO:0002561
Tags
Amber Amber List (moderate evidence)
SQOR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leigh-like disorder
  • Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Tags
Amber Amber List (moderate evidence)
SSR3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation
Tags
Amber Amber List (moderate evidence)
STAT1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599
Tags
Amber Amber List (moderate evidence)
STRA6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Matthew-Wood syndrome MONDO:0011010
  • Other disorders of vitamin metabolism
Tags
Amber Amber List (moderate evidence)
STX5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital disorder of glycosylation MONDO#0015286, STX5-related
Tags
Amber Amber List (moderate evidence)
SUGCT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Glutaric aciduria III MIM#231690
  • Organic acidurias
Tags
Amber Amber List (moderate evidence)
SUGCT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • glutaric acidemia type 3 MONDO:0009283
Tags
Amber Amber List (moderate evidence)
TCN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • transcobalamin I deficiency MONDO:0008659
Tags
Amber Amber List (moderate evidence)
TFRC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of iron metabolism
  • TFRC-related combined immunodeficiency MONDO:0014760
Tags
Amber Amber List (moderate evidence)
TIMM22
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • NHS GMS
  • NHS GMS
Phenotypes
  • Mitochondrial disease, MONDO:0044970, TIMM22-related
Tags
Amber Amber List (moderate evidence)
TMEM65
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • NHS GMS
  • NHS GMS
Phenotypes
  • Mitochondrial disease, MONDO:0044970, TMEM65-related
Tags
Amber Amber List (moderate evidence)
TOMM7
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • Garg-Mishra progeroid syndrome, MIM# 620601
Tags
Amber Amber List (moderate evidence)
TOMM70
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, TOMM70-related
Tags
Amber Amber List (moderate evidence)
TRAPPC11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356
Tags
Amber Amber List (moderate evidence)
TXN2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 29, MIM# 616811
Tags
Amber Amber List (moderate evidence)
UQCC3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111
Tags
Amber Amber List (moderate evidence)
UQCRH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 11, MIM#620137
Tags
Amber Amber List (moderate evidence)
UQCRQ
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Tags
Amber Amber List (moderate evidence)
UROC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • urocanic aciduria MONDO:0010167
Tags
Amber Amber List (moderate evidence)
UROC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Urocanase deficiency, MIM#276880
Tags
Amber Amber List (moderate evidence)
USMG5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683
Tags
Amber Amber List (moderate evidence)
YME1L1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Optic atrophy 11 MIM#617302
Tags
Amber Amber List (moderate evidence)
ZNF143
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Red
  • Expert Review
Phenotypes
  • methylmalonic aciduria and homocystinuria MONDO:0016826
Tags
Red Red List (low evidence)
ABCB6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • familial pseudohyperkalemia MONDO:0012204
  • Disorders of heme synthesis and porphyrias
Tags
Red Red List (low evidence)
ABCD3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 5 (MIM#616278)
Tags
Red Red List (low evidence)
ACADL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary surfactant dysfunction
Tags
  • disputed
Red Red List (low evidence)
ACSL5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Diarrhoea 13, MIM# 620357
Tags
Red Red List (low evidence)
AGPS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
Tags
Red Red List (low evidence)
AGXT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Beta-aminoisobutyric acid, urinary excretion of MIM#210100
Tags
Red Red List (low evidence)
AKT2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Diabetes mellitus, type II, 125853
Tags
Red Red List (low evidence)
ALDH1A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Isolated microphthalmia 8 MONDO:0014050
  • Other disorders of vitamin metabolism
Tags
Red Red List (low evidence)
ALDOB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fructose intolerance, hereditary, MIM# 229600
Tags
Red Red List (low evidence)
ALG10
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
Tags
Red Red List (low evidence)
ALPL
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert review Green
Phenotypes
  • disorder of bone metabolism
  • Hypophosphatasia
  • Disorders of pyridoxine metabolism
Tags
Red Red List (low evidence)
ALPL
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatasia
Tags
Red Red List (low evidence)
AMPD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • adenosine monophosphate deaminase deficiency MONDO:0013028
Tags
Red Red List (low evidence)
AMPD3
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • adenosine monophosphate deaminase deficiency MONDO:0013028
Tags
Red Red List (low evidence)
APOC3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Apolipoprotein C-III deficiency MIM#614028
Tags
Red Red List (low evidence)
APPL1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Royal Melbourne Hospital
Phenotypes
  • {Maturity-onset diabetes of the young, type 14}, 616511
  • Diabetes
Tags
Red Red List (low evidence)
ARHGEF9
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 8, MIM# 300607
Tags
Red Red List (low evidence)
ATP5F1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085
Tags
Red Red List (low evidence)
ATPAF2
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Tags
Red Red List (low evidence)
BCO1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Other disorders of vitamin metabolism
  • hereditary hypercarotenemia and vitamin A deficiency MONDO:0007272
Tags
Red Red List (low evidence)
BLK
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Royal Melbourne Hospital
Phenotypes
  • Maturity-onset diabetes of the young, type 11, 613375
  • Maturity Onset Diabetes of the Young
Tags
Red Red List (low evidence)
CAMLG
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation type IIz, OMIM #: 620201
Tags
Red Red List (low evidence)
CAV1
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lipodystrophy, congenital generalized, type 3, 612526
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Tags
Red Red List (low evidence)
CHST8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling Skin Syndrome
Tags
Red Red List (low evidence)
CIDEC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • CIDEC-related familial partial lipodystrophy MONDO:0014098
Tags
Red Red List (low evidence)
COA3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058
Tags
Red Red List (low evidence)
COA5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Tags
Red Red List (low evidence)
COG2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIq (MIM# 617395)
Tags
Red Red List (low evidence)
COQ5
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary 9, MIM#619028
  • Cerebellar ataxia
  • encephalopathy
  • generalized tonic-clonic seizures
  • intellectual disability
Tags
Red Red List (low evidence)
COQ9
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840
Tags
Red Red List (low evidence)
COX4I2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
Tags
Red Red List (low evidence)
COX8A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059
Tags
Red Red List (low evidence)
CYBRD1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • Iron metabolism disease, MONDO:0002279, CYBRD1-related
Tags
Red Red List (low evidence)
DMGDH
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dimethylglycine dehydrogenase deficiency MIM#605850
Tags
Red Red List (low evidence)
DMGDH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • dimethylglycine dehydrogenase deficiency MONDO:0011610
Tags
Red Red List (low evidence)
DMXL2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Polyendocrine-polyneuropathy syndrome , MIM# 616113
Tags
Red Red List (low evidence)
DSE
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)
Tags
Red Red List (low evidence)
EPHX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Familial hypercholanemia MONDO:0011905
  • Other disorders of vitamin metabolism
Tags
Red Red List (low evidence)
ERCC6L2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Bone marrow failure syndrome 2, MIM#615715
Tags
Red Red List (low evidence)
FAM136A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meniere's disease
Tags
Red Red List (low evidence)
FOXC2
1 review
 Unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Lymphedema-distichiasis syndrome, 153400
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Tags
Red Red List (low evidence)
FTH1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • Hemochromatosis, type 5, MIM# 615517
Tags
  • 5'UTR
Red Red List (low evidence)
GATC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Mitochondrial cardiomyopathy
Tags
Red Red List (low evidence)
GCSH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Glycine encephalopathy MIM#605899
  • Disorders of serine, glycine or glycerate metabolism
Tags
Red Red List (low evidence)
GET4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Congenital disorder of glycosylation,, type IIy MIM#620200
Tags
Red Red List (low evidence)
GLYAT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, GLYAT-related
Tags
Red Red List (low evidence)
GMPR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • progressive external ophthalmoplegia
Tags
Red Red List (low evidence)
GNMT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • glycine N-methyltransferase deficiency MONDO:0011698
Tags
Red Red List (low evidence)
GPHN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Molybdenum cofactor deficiency C, MIM# 615501
Tags
Red Red List (low evidence)
HAL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • histidinemia MONDO:0009345
Tags
Red Red List (low evidence)
HEPH
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • Iron metabolism defect
Tags
Red Red List (low evidence)
HEPHL1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • pili torti-developmental delay-neurological abnormalities syndrome MONDO:0009871
Tags
Red Red List (low evidence)
HFE
2 reviews
2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • {Porphyria cutanea tarda, susceptibility to}, 176100
  • {Porphyria variegata, susceptibility to}, 176200
Tags
Red Red List (low evidence)
HIBADH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • organic aciduria
Tags
Red Red List (low evidence)
HIBADH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • 3-hydroxyisobutyric aciduria MONDO:0009371
Tags
Red Red List (low evidence)
HYKK
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351
Tags
Red Red List (low evidence)
KIF5A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Myoclonus, intractable, neonatal MIM#617235
Tags
Red Red List (low evidence)
KLF11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review
  • Royal Melbourne Hospital
Phenotypes
  • Maturity-onset diabetes of the young, type VII, 610508
  • Maturity Onset Diabetes of the Young
Tags
Red Red List (low evidence)
KMO
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • pellagra MONDO:0019975
Tags
Red Red List (low evidence)
LIPC
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}, MIM#125853
Tags
Red Red List (low evidence)
ME2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • inborn disorder of energy metabolism MONDO:0019243
Tags
Red Red List (low evidence)
MICU2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • cognitive impairment
  • spasticity
  • white matter involvement
Tags
Red Red List (low evidence)
MIEF1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Optic atrophy 14 (MIM#620550)
Tags
Red Red List (low evidence)
MIEF2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 49, MIM# 619024
  • Progressive muscle weakness
  • Exercise intolerance
  • Ragged red and COX negative fibres
  • Complex I and IV deficiency
Tags
Red Red List (low evidence)
MPST
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585
Tags
Red Red List (low evidence)
MRPL12
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Growth retardation
  • neurological deterioration
  • mitochondrial translation deficiency
  • Combined oxidative phosphorylation deficiency 45, MIM#618951
Tags
Red Red List (low evidence)
MRPL42
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
Tags
Red Red List (low evidence)
MRPS25
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 50, MIM# 619025
  • Dyskinetic cerebral palsy
  • Mitochondrial myopathy
  • Partial agenesis of the corpus callosum
Tags
Red Red List (low evidence)
MRPS28
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Intrauterine growth retardation
  • developmental delay
  • dysmorphism
  • Combined oxidative phosphorylation deficiency 47, MIM618958
Tags
Red Red List (low evidence)
MT-RNR2
1 review
1 red 		MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
  • Expert Review
Tags
Red Red List (low evidence)
NAT8L
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • N-acetylaspartate deficiency MONDO:0013549
Tags
Red Red List (low evidence)
NAT8L
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • N-acetylaspartate deficiency - MIM#614063
Tags
Red Red List (low evidence)
NDUFAF7
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Pathologic myopia
Tags
Red Red List (low evidence)
NME3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hypotonia
  • Neurodegeneration
  • Abnormal mitochondrial dynamics
Tags
Red Red List (low evidence)
OAT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Tags
Red Red List (low evidence)
OPLAH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • 5-oxoprolinase deficiency MONDO:0009825
  • Disorders of glutathione metabolism
Tags
Red Red List (low evidence)
OSTC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Oligosaccharyltransferase complex-congenital disorders of glycosylation
Tags
Red Red List (low evidence)
PAPSS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Tags
Red Red List (low evidence)
PAX4
4 reviews
2 green 2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Royal Melbourne Hospital
Phenotypes
  • Maturity-onset diabetes of the young, type IX MIM#612225
  • Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related
Tags
  • refuted
Red Red List (low evidence)
PAX6
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Monogenic diabetes, MONDO:0015967, PAX6-related
Tags
Red Red List (low evidence)
PET117
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063
  • Developmental delay
Tags
Red Red List (low evidence)
PHYKPL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • phosphohydroxylysinuria MONDO:0014008
Tags
Red Red List (low evidence)
PIGF
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356
Tags
Red Red List (low evidence)
PNPLA4
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial disease (MONDO:0044970), PNPLA4-related
Tags
Red Red List (low evidence)
POGLUT1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)
Tags
Red Red List (low evidence)
PPA1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Galactosaemia, MONDO:0018116
Tags
Red Red List (low evidence)
PPARG
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
PRODH2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • hydroxyprolinemia MONDO:0009374
Tags
Red Red List (low evidence)
PTCD1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • NHS GMS
  • NHS GMS
Phenotypes
  • Cardiomyopathy MONDO:0004994, PTCD1-related
Tags
Red Red List (low evidence)
PYROXD2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970
Tags
  • disputed
Red Red List (low evidence)
RBP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 66 MONDO:0014093
  • Other disorders of vitamin metabolism
Tags
Red Red List (low evidence)
SARDH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • sarcosinemia MONDO:0010008
Tags
Red Red List (low evidence)
SDHAF2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Paragangliomas 2, MIM# 601650
Tags
Red Red List (low evidence)
SDHC
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial disease MONDO:0044970
Tags
Red Red List (low evidence)
SEC23A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniolenticulosutural dysplasia (MIM# 607812)
Tags
Red Red List (low evidence)
SIRT1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • monogenic diabetes MONDO:0015967
Tags
Red Red List (low evidence)
SLC25A22
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, MIM# 609304
Tags
Red Red List (low evidence)
SLC27A5
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)
SLC29A1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • Equilibrative nucleoside transporter 1 deficiency MONDO:0019052
Tags
Red Red List (low evidence)
SLC36A2
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • iminoglycinuria MONDO:0009448
Tags
Red Red List (low evidence)
SLC6A20
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Hyperglycinuria MONDO:0007677
Tags
Red Red List (low evidence)
SLC7A5
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Large neutral amino acid transporter deficiency (MIM#600182)
Tags
Red Red List (low evidence)
SLIRP
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mitochondrial encephalomyopathy with complex I and IV deficiency
Tags
Red Red List (low evidence)
STAP1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial hypercholesterolemia MONDO:0005439
Tags
Red Red List (low evidence)
STEAP3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234
Tags
Red Red List (low evidence)
STT3B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ix 615597
Tags
Red Red List (low evidence)
TDO2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypertryptophanemia MIM#600627
  • Disorders of histidine, tryptophan or lysine metabolism
Tags
Red Red List (low evidence)
TDO2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • familial hypertryptophanemia MONDO:0010907
Tags
Red Red List (low evidence)
THAP11
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert Review
Phenotypes
  • Methylmalonic aciduria, cblC type-like, MIM# 620940
  • Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Tags
Red Red List (low evidence)
TIMM29
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sengers syndrome MONDO:0008922, TIMM29-related
Tags
Red Red List (low evidence)
TPMT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Thiopurines, poor metabolism of, 1} 610460
Tags
Red Red List (low evidence)
TRIP11
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
TTPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review green
Phenotypes
  • familial isolated deficiency of vitamin E MONDO:0010188
  • Other disorders of vitamin metabolism
Tags
Red Red List (low evidence)
UNC13A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Monogenic diabetes, MONDO:0015967, UNC13A-related
Tags
Red Red List (low evidence)
XPNPEP3
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Nephronophthisis-like nephropathy 1 MIM#613159
Tags

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