| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Nucleotide metabolism disorders v0.1 |
Bryony Thompson Panel status changed from internal to public Panel types changed to Royal Melbourne Hospital; Rare Disease |
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| Nucleotide metabolism disorders v0.0 | AGXT2 |
Bryony Thompson gene: AGXT2 was added gene: AGXT2 was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: AGXT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT2 were set to 21572414 Phenotypes for gene: AGXT2 were set to Beta-aminoisobutyric acid, urinary excretion of MIM#210100 |
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| Nucleotide metabolism disorders v0.0 | UPB1 |
Bryony Thompson gene: UPB1 was added gene: UPB1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UPB1 were set to 24526388; 1796483; 27604308; 15385443; 25638458; 22525402 Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency MONDO:0013164; Disorders of pyrimidine metabolism |
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| Nucleotide metabolism disorders v0.0 | DPYS |
Bryony Thompson gene: DPYS was added gene: DPYS was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYS were set to 9718352; 29054612; 30384990 Phenotypes for gene: DPYS were set to Dihydropyrimidinuria MONDO:0009111; Disorders of pyrimidine metabolism |
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| Nucleotide metabolism disorders v0.0 | DPYD |
Bryony Thompson gene: DPYD was added gene: DPYD was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYD were set to 8051923; 29152729 Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MONDO:0010130; Disorders of pyrimidine metabolism |
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| Nucleotide metabolism disorders v0.0 | SLC29A3 |
Bryony Thompson gene: SLC29A3 was added gene: SLC29A3 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 22238637; 18940313; 19336477 Phenotypes for gene: SLC29A3 were set to Disorders of ectonucleotide and nucleic acid metabolism; H syndrome MONDO:0011273 |
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| Nucleotide metabolism disorders v0.0 | SLC29A1 |
Bryony Thompson gene: SLC29A1 was added gene: SLC29A1 was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: SLC29A1 was set to Unknown |
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| Nucleotide metabolism disorders v0.0 | NT5E |
Bryony Thompson gene: NT5E was added gene: NT5E was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5E were set to 21288095 Phenotypes for gene: NT5E were set to Disorders of ectonucleotide and nucleic acid metabolism; hereditary arterial and articular multiple calcification syndrome MONDO:0008895 |
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| Nucleotide metabolism disorders v0.0 | ENPP1 |
Bryony Thompson gene: ENPP1 was added gene: ENPP1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ENPP1 were set to 20016754; 12881724 Phenotypes for gene: ENPP1 were set to Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Arterial calcification, generalized, of infancy, 1, MIM# 208000 |
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| Nucleotide metabolism disorders v0.0 | ABCC6 |
Bryony Thompson gene: ABCC6 was added gene: ABCC6 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC6 were set to 28102862; 11536079; 33005041; 34355424 |
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| Nucleotide metabolism disorders v0.0 | OAS1 |
Bryony Thompson gene: OAS1 was added gene: OAS1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OAS1 were set to 29455859; 34145065 Phenotypes for gene: OAS1 were set to Disorders of ectonucleotide and nucleic acid metabolism; pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840 |
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| Nucleotide metabolism disorders v0.0 | TMEM173 |
Bryony Thompson gene: TMEM173 was added gene: TMEM173 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM173 were set to 25029335; 25401470 Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy with onset in infancy MONDO:0014405 |
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| Nucleotide metabolism disorders v0.0 | IFIH1 |
Bryony Thompson gene: IFIH1 was added gene: IFIH1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: IFIH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: IFIH1 were set to 34185153; 24686847 Phenotypes for gene: IFIH1 were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome 7, MIM#615846; Early-onset Inflammatory Bowel Disease |
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| Nucleotide metabolism disorders v0.0 | ADAR |
Bryony Thompson gene: ADAR was added gene: ADAR was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAR were set to 29221912; 23001123; 24262145 Phenotypes for gene: ADAR were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866 |
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| Nucleotide metabolism disorders v0.0 | SAMHD1 |
Bryony Thompson gene: SAMHD1 was added gene: SAMHD1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 33307271; 21102625; 19525956; 20301648 Phenotypes for gene: SAMHD1 were set to Disorders of mitochondrial nucleotide pool maintenance; Aicardi-Goutieres syndrome MONDO:0018866 |
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| Nucleotide metabolism disorders v0.0 | RNASET2 |
Bryony Thompson gene: RNASET2 was added gene: RNASET2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 19525954; 29336640; 15851732; 27091087; 31349848; 18545798 Phenotypes for gene: RNASET2 were set to Disorders of ectonucleotide and nucleic acid metabolism; cystic leukoencephalopathy without megalencephaly MONDO:0013058 |
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| Nucleotide metabolism disorders v0.0 | RNASEH2A |
Bryony Thompson gene: RNASEH2A was added gene: RNASEH2A was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 25604658; 23592335; 20301648 Phenotypes for gene: RNASEH2A were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866 |
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| Nucleotide metabolism disorders v0.0 | RNASEH2C |
Bryony Thompson gene: RNASEH2C was added gene: RNASEH2C was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 24183309; 23322642; 16845400 Phenotypes for gene: RNASEH2C were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866 |
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| Nucleotide metabolism disorders v0.0 | RNASEH2B |
Bryony Thompson gene: RNASEH2B was added gene: RNASEH2B was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to 33307271; 29239743; 16845400 Phenotypes for gene: RNASEH2B were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866 |
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| Nucleotide metabolism disorders v0.0 | TREX1 |
Bryony Thompson gene: TREX1 was added gene: TREX1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 21937424; 17357087; 16845398 Phenotypes for gene: TREX1 were set to Disorder of nucleotide metabolism; Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 |
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| Nucleotide metabolism disorders v0.0 | SLC2A9 |
Bryony Thompson gene: SLC2A9 was added gene: SLC2A9 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC2A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A9 were set to 19926891; 19026395; 25966807; 21256783; 21810765 Phenotypes for gene: SLC2A9 were set to hereditary renal hypouricemia MONDO:0009071; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | SLC22A12 |
Bryony Thompson gene: SLC22A12 was added gene: SLC22A12 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A12 were set to 14655203; 26821810; 34756726; 34829836; 34412930 Phenotypes for gene: SLC22A12 were set to hereditary renal hypouricemia MONDO:0009071; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | ITPA |
Bryony Thompson gene: ITPA was added gene: ITPA was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 12384777; 27604308 Phenotypes for gene: ITPA were set to Disorders of purine metabolism; Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647 |
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| Nucleotide metabolism disorders v0.0 | TPMT |
Bryony Thompson gene: TPMT was added gene: TPMT was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPMT were set to {Thiopurines, poor metabolism of, 1} 610460 |
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| Nucleotide metabolism disorders v0.0 | IMPDH1 |
Bryony Thompson gene: IMPDH1 was added gene: IMPDH1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: IMPDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IMPDH1 were set to 11875049; 16384941; 11875050 Phenotypes for gene: IMPDH1 were set to Disorders of purine metabolism; retinitis pigmentosa MONDO:0019200 |
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| Nucleotide metabolism disorders v0.0 | AK2 |
Bryony Thompson gene: AK2 was added gene: AK2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043417; 19043416 Phenotypes for gene: AK2 were set to reticular dysgenesis MONDO:0009973; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | AK1 |
Bryony Thompson gene: AK1 was added gene: AK1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK1 were set to 2542324; 34321014; 9432020; 10233365 Phenotypes for gene: AK1 were set to hemolytic anemia due to adenylate kinase deficiency MONDO:0012967; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | APRT |
Bryony Thompson gene: APRT was added gene: APRT was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APRT were set to 7915931; 2227934; 1353080; 3680503 Phenotypes for gene: APRT were set to adenine phosphoribosyltransferase deficiency MONDO:0013869; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | HPRT1 |
Bryony Thompson gene: HPRT1 was added gene: HPRT1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HPRT1 were set to 2928313; 23975452; 20176575 Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome MONDO:0010298; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | XDH |
Bryony Thompson gene: XDH was added gene: XDH was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XDH were set to 32071838; 29723117 Phenotypes for gene: XDH were set to xanthinuria type I MONDO:0010209; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | PNP |
Bryony Thompson gene: PNP was added gene: PNP was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNP were set to 1384322; 11453975; 32695102; 3029074; 32514656 Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | ADA2 |
Bryony Thompson gene: ADA2 was added gene: ADA2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 24552284; 35095905 Phenotypes for gene: ADA2 were set to Disorders of purine metabolism; Deficiency of adenosine deaminase 2 MONDO:0100317 |
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| Nucleotide metabolism disorders v0.0 | ADA |
Bryony Thompson gene: ADA was added gene: ADA was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 3684597; 3475710; 2783588; 1680289 Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700; disorder of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | AMPD3 |
Bryony Thompson gene: AMPD3 was added gene: AMPD3 was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: AMPD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD3 were set to 8004104; 24940686; 11139257 Phenotypes for gene: AMPD3 were set to adenosine monophosphate deaminase deficiency MONDO:0013028 |
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| Nucleotide metabolism disorders v0.0 | AMPD2 |
Bryony Thompson gene: AMPD2 was added gene: AMPD2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 27066553; 23911318 Phenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia type 9 MONDO:0014351; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | AMPD1 |
Bryony Thompson gene: AMPD1 was added gene: AMPD1 was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD1 were set to 27296017; 21343608 Phenotypes for gene: AMPD1 were set to adenosine monophosphate deaminase deficiency MONDO:0013028 |
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| Nucleotide metabolism disorders v0.0 | ADSL |
Bryony Thompson gene: ADSL was added gene: ADSL was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 1302001; 22180458; 27626380; 18524658 Phenotypes for gene: ADSL were set to disorder of purine metabolism; Adenylosuccinase deficiency MIM#103050 |
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| Nucleotide metabolism disorders v0.0 | PRPS1 |
Bryony Thompson gene: PRPS1 was added gene: PRPS1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PRPS1 were set to 20380929; 17701900 Phenotypes for gene: PRPS1 were set to PRPS1 deficiency disorder MONDO:0100061; Disorders of purine metabolism |
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| Nucleotide metabolism disorders v0.0 | UNG |
Bryony Thompson gene: UNG was added gene: UNG was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNG were set to 12958596; 23585684; 32135276 Phenotypes for gene: UNG were set to hyper-IgM syndrome type 5 MONDO:0011971; Disorders of ectonucleotide and nucleic acid metabolism |
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| Nucleotide metabolism disorders v0.0 | AICDA |
Bryony Thompson gene: AICDA was added gene: AICDA was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AICDA were set to 10373455; 21700883; 14962793 Phenotypes for gene: AICDA were set to hyper-IgM syndrome type 2 MONDO:0011528; Disorders of ectonucleotide and nucleic acid metabolism |
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| Nucleotide metabolism disorders v0.0 | NT5C3A |
Bryony Thompson gene: NT5C3A was added gene: NT5C3A was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 11369620 Phenotypes for gene: NT5C3A were set to disorder of pyrimidine metabolism; Anemia, hemolytic, due to UMPH1 deficiency MIM#266120 |
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| Nucleotide metabolism disorders v0.0 | UMPS |
Bryony Thompson gene: UMPS was added gene: UMPS was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to 33489760; 9042911 Phenotypes for gene: UMPS were set to Orotic aciduria, MIM# 258900 |
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| Nucleotide metabolism disorders v0.0 | DHODH |
Bryony Thompson gene: DHODH was added gene: DHODH was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHODH were set to 19915526 Phenotypes for gene: DHODH were set to Miller syndrome MIM#263750; Disorders of pyrimidine metabolism |
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| Nucleotide metabolism disorders v0.0 | CAD |
Bryony Thompson gene: CAD was added gene: CAD was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAD were set to 25678555; 29884839; 28007989 Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457 |
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| Nucleotide metabolism disorders v0.0 | Bryony Thompson Added panel Nucleotide metabolism disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||