PanelApp
  1. Panels
  2. Nucleotide metabolism disorders
Description
This panel contains genes that cause inborn errors of purine, pyrimidine, and nucleic acid metabolism.

It is a component of the Metabolic Disorders Superpanel.
Panel Activity

11 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Samantha Ayres (Victorian Clinical Genetics Services)

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Sarah Pantaleo (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Belinda Chong (Victorian Clinical Genetics Services)

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

44 Entities

42 reviewed, 39 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Green Green List (high evidence)
ABCC6
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ADA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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)
ADA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • Aicardi-Goutieres syndrome MONDO:0018866
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)
AICDA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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)
AK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
  • Victorian Clinical Genetics Services
Phenotypes
  • reticular dysgenesis MONDO:0009973
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
AMPD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • pontocerebellar hypoplasia type 9 MONDO:0014351
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
APRT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • adenine phosphoribosyltransferase deficiency MONDO:0013869
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
CAD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 50, MIM# 616457
Tags
Green Green List (high evidence)
DHODH
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Miller syndrome MIM#263750
  • Disorders of pyrimidine metabolism
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 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
  • Victorian Clinical Genetics Services
Phenotypes
  • Dihydropyrimidinuria MONDO:0009111
  • Disorders of pyrimidine metabolism
Tags
Green Green List (high evidence)
ENPP1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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)
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)
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)
IFIH1
3 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • 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)
IMPDH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of purine metabolism
  • retinitis pigmentosa MONDO:0019200
Tags
Green Green List (high evidence)
ITPA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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)
NT5C3A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
  • 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)
OAS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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)
PNP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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)
PRPS1
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • 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)
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
  • 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)
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)
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)
SLC29A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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)
SLC2A9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hereditary renal hypouricemia MONDO:0009071
  • Disorders of purine metabolism
Tags
Green Green List (high evidence)
TMEM173
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • STING-associated vasculopathy with onset in infancy MONDO:0014405
Tags
Green Green List (high evidence)
TREX1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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)
UMPS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Beta-ureidopropionase deficiency MONDO:0013164
  • Disorders of pyrimidine metabolism
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
Red Red List (low evidence)
AGXT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Beta-aminoisobutyric acid, urinary excretion of MIM#210100
Tags
Red Red List (low evidence)
AMPD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
  • Victorian Clinical Genetics Services
Phenotypes
  • adenosine monophosphate deaminase deficiency MONDO:0013028
Tags
Red Red List (low evidence)
SLC29A1
0 reviews
 Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TPMT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Thiopurines, poor metabolism of, 1} 610460
Tags

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