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Nucleotide metabolism disorders v0.8 AGXT2 Zornitza Stark Marked gene: AGXT2 as ready
Nucleotide metabolism disorders v0.8 AGXT2 Zornitza Stark Gene: agxt2 has been classified as Red List (Low Evidence).
Nucleotide metabolism disorders v0.8 SLC29A1 Zornitza Stark Marked gene: SLC29A1 as ready
Nucleotide metabolism disorders v0.8 SLC29A1 Zornitza Stark Gene: slc29a1 has been classified as Red List (Low Evidence).
Nucleotide metabolism disorders v0.8 SLC29A1 Zornitza Stark Phenotypes for gene: SLC29A1 were changed from to Disorders of ectonucleotide and nucleic acid metabolism; Equilibrative nucleoside transporter 1 deficiency MONDO:0019052
Nucleotide metabolism disorders v0.7 SLC29A1 Zornitza Stark Publications for gene: SLC29A1 were set to
Nucleotide metabolism disorders v0.6 SLC29A1 Zornitza Stark Mode of inheritance for gene: SLC29A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Nucleotide metabolism disorders v0.5 SLC29A1 Sangavi Sivagnanasundram changed review comment from: This gene-disease association is an inborn error of metabolism known as disorders of ectonucleotide and nucleic acid metabolism. Not enough evidence to support the gene-disease association. - https://iembase.com/disorder/783

PMID: 35955904
Homozygous Glu391Lys responsible for the A-negative blood time in people of African ancestry however is not shown to alter the protein function. Affected individuals will likely not have any phenotypes except the A- blood type. Missense variant is present in gnomAD v4.1 (GrpMax FAF - 1.159% in African/African American Population)

PMID: 25896650
3 sibs of European ancestry identified with homozygous c.589+1G>C (rare on gnomAD v4.1 for AR gene)
No severe phenotype was observed however periarticular and ectopic mineralization was observed which important regarding bone homeostasis.; to: This gene-disease association is an inborn error of metabolism known as disorders of ectonucleotide and nucleic acid metabolism. More evidence is required to support the gene-disease association. - https://iembase.com/disorder/783

PMID: 35955904
Homozygous Glu391Lys responsible for the A-negative blood time in people of African ancestry however is not shown to alter the protein function. Affected individuals will likely not have any phenotypes except the A- blood type. Missense variant is present in gnomAD v4.1 (GrpMax FAF - 1.159% in African/African American Population)

PMID: 25896650
3 sibs of European ancestry identified with homozygous c.589+1G>C (rare on gnomAD v4.1 for AR gene)
No severe phenotype was observed however periarticular and ectopic mineralization was observed which important regarding bone homeostasis.
Nucleotide metabolism disorders v0.5 SLC29A1 Sangavi Sivagnanasundram reviewed gene: SLC29A1: Rating: RED; Mode of pathogenicity: None; Publications: 35955904, 25896650; Phenotypes: Disorders of ectonucleotide and nucleic acid metabolism, Equilibrative nucleoside transporter 1 deficiency MONDO:0019052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Nucleotide metabolism disorders v0.5 AGXT2 Sangavi Sivagnanasundram reviewed gene: AGXT2: Rating: RED; Mode of pathogenicity: None; Publications: 21572414; Phenotypes: beta-aminoisobutyric acid, urinary excretion of MONDO:0008860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Nucleotide metabolism disorders v0.5 GUK1 Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Nucleotide metabolism disorders v0.4 GUK1 Zornitza Stark reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Nucleotide metabolism disorders v0.4 GUK1 Bryony Thompson Marked gene: GUK1 as ready
Nucleotide metabolism disorders v0.4 GUK1 Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence).
Nucleotide metabolism disorders v0.4 GUK1 Bryony Thompson Classified gene: GUK1 as Green List (high evidence)
Nucleotide metabolism disorders v0.4 GUK1 Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence).
Nucleotide metabolism disorders v0.3 GUK1 Bryony Thompson gene: GUK1 was added
gene: GUK1 was added to Nucleotide metabolism disorders. Sources: Literature
Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUK1 were set to 39230499
Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related
Review for gene: GUK1 was set to GREEN
Added comment: Guanylate kinase, encoded by GUK1, is a nucleotide monophosphate kinase. 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases.
Sources: Literature
Nucleotide metabolism disorders v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Nucleotide metabolism disorders v0.0 Bryony Thompson Added panel Nucleotide metabolism disorders