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Transplant Co-Morbidity Superpanel v0.18 Bryony Thompson removed gene:IFNL3 from the panel
Transplant Co-Morbidity Superpanel v0.17 TPM4 Zornitza Stark Phenotypes for gene: TPM4 were changed from leeding disorder, platelet-type, 25, MIM# 620486 to Bleeding disorder, platelet-type, 25, MIM# 620486
Transplant Co-Morbidity Superpanel v0.16 TPM4 Zornitza Stark Marked gene: TPM4 as ready
Transplant Co-Morbidity Superpanel v0.16 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.16 TPM4 Zornitza Stark Phenotypes for gene: TPM4 were changed from Macrothrombocytopenia to leeding disorder, platelet-type, 25, MIM# 620486
Transplant Co-Morbidity Superpanel v0.15 TPM4 Zornitza Stark reviewed gene: TPM4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486; Mode of inheritance: None
Transplant Co-Morbidity Superpanel v0.15 TPMT Bryony Thompson Classified gene: TPMT as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.15 TPMT Bryony Thompson Gene: tpmt has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.14 SLCO1B1 Bryony Thompson Marked gene: SLCO1B1 as ready
Transplant Co-Morbidity Superpanel v0.14 SLCO1B1 Bryony Thompson Gene: slco1b1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.14 SLCO1B1 Bryony Thompson Classified gene: SLCO1B1 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.14 SLCO1B1 Bryony Thompson Gene: slco1b1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.13 NUDT15 Bryony Thompson Marked gene: NUDT15 as ready
Transplant Co-Morbidity Superpanel v0.13 NUDT15 Bryony Thompson Gene: nudt15 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.13 NUDT15 Bryony Thompson Classified gene: NUDT15 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.13 NUDT15 Bryony Thompson Gene: nudt15 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.12 MT-RNR1 Bryony Thompson Marked gene: MT-RNR1 as ready
Transplant Co-Morbidity Superpanel v0.12 MT-RNR1 Bryony Thompson Gene: mt-rnr1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.12 MT-RNR1 Bryony Thompson Classified gene: MT-RNR1 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.12 MT-RNR1 Bryony Thompson Gene: mt-rnr1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.11 IFNL3 Bryony Thompson Marked gene: IFNL3 as ready
Transplant Co-Morbidity Superpanel v0.11 IFNL3 Bryony Thompson Gene: ifnl3 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.11 IFNL3 Bryony Thompson Classified gene: IFNL3 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.11 IFNL3 Bryony Thompson Gene: ifnl3 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.10 DPYD Bryony Thompson Marked gene: DPYD as ready
Transplant Co-Morbidity Superpanel v0.10 DPYD Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.10 DPYD Bryony Thompson Classified gene: DPYD as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.10 DPYD Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.9 CYP4F2 Bryony Thompson Marked gene: CYP4F2 as ready
Transplant Co-Morbidity Superpanel v0.9 CYP4F2 Bryony Thompson Gene: cyp4f2 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.9 CYP4F2 Bryony Thompson Classified gene: CYP4F2 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.9 CYP4F2 Bryony Thompson Gene: cyp4f2 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.8 UGT1A1 Bryony Thompson Marked gene: UGT1A1 as ready
Transplant Co-Morbidity Superpanel v0.8 UGT1A1 Bryony Thompson Gene: ugt1a1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.8 UGT1A1 Bryony Thompson Classified gene: UGT1A1 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.8 UGT1A1 Bryony Thompson Gene: ugt1a1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.7 CYP3A5 Bryony Thompson Marked gene: CYP3A5 as ready
Transplant Co-Morbidity Superpanel v0.7 CYP3A5 Bryony Thompson Gene: cyp3a5 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.7 CYP3A5 Bryony Thompson Classified gene: CYP3A5 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.7 CYP3A5 Bryony Thompson Gene: cyp3a5 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.6 CYP2C9 Bryony Thompson Marked gene: CYP2C9 as ready
Transplant Co-Morbidity Superpanel v0.6 CYP2C9 Bryony Thompson Gene: cyp2c9 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.6 CYP2C9 Bryony Thompson Classified gene: CYP2C9 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.6 CYP2C9 Bryony Thompson Gene: cyp2c9 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.5 CYP2C19 Bryony Thompson Marked gene: CYP2C19 as ready
Transplant Co-Morbidity Superpanel v0.5 CYP2C19 Bryony Thompson Gene: cyp2c19 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.5 CYP2C19 Bryony Thompson Classified gene: CYP2C19 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.5 CYP2C19 Bryony Thompson Gene: cyp2c19 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.4 MT-RNR1 Claire Fryer-Smith gene: MT-RNR1 was added
gene: MT-RNR1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Deafness, mitochondrial, modifier of MIM# 580000
Review for gene: MT-RNR1 was set to GREEN
Added comment: Multiple variations within the MT-RNR1 gene have been associated with the development of hearing loss in patients who receive aminoglycoside antibiotics. Aminoglycosides are a class of antibiotics that includes drugs such as streptomycin, kanamycin, gentamycin and tobramycin, among others.

https://www.pharmgkb.org/gene/PA31274

The 1555A>G variation in the MT-RNR1 gene is strongly associated with the development of bilateral, sensorineural, nonsyndromic hearing loss following aminoglycoside antibiotic use: across 40 studies in either family pedigrees or groups of patients with hearing loss, 100% of those with the MT-RNR1 1555G variant who received an aminoglycoside antibiotic developed hearing loss. (PMID:9164619)
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 G6PD Claire Fryer-Smith reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, G6PD deficient (favism) MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Transplant Co-Morbidity Superpanel v0.4 IFNL3 Claire Fryer-Smith gene: IFNL3 was added
gene: IFNL3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: IFNL3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: IFNL3 were set to 19749758; 19684573; 24752298
Phenotypes for gene: IFNL3 were set to Hepatitis C virus infection, response to therapy of MIM# 609532
Review for gene: IFNL3 was set to GREEN
Added comment: https://www.pharmgkb.org/gene/PA134952671/overview

IFNL3 encodes IL28B, a class II cytokine receptor.

Suppiah et al., (2009) reported an association to sustained virological response (SVR) within the gene region encoding interleukin 28B. IL28B contributes to viral resistance and is known to be upregulated by interferons and by RNA virus infection. This data suggests that host genetics may be useful for the prediction of drug response, and they also support the investigation of the role of IL28B in the treatment of HCV and in other diseases treated with IFN-alpha. (PMID: 19749758)

The CC genotype of rs12979860 was associated with an approximately 2-fold greater rate of SVR compared with the TT genotype (PMID: 19684573, 24752298).
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 RYR1 Claire Fryer-Smith reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia MIM# 117000, Congenital myopathy 1B, autosomal recessive MIM# 255320, King-Denborough syndrome MIM# 619542, Malignant hyperthermia susceptibility MIM# 145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transplant Co-Morbidity Superpanel v0.4 CYP4F2 Claire Fryer-Smith gene: CYP4F2 was added
gene: CYP4F2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CYP4F2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP4F2 were set to 25370453; 20555338; 19207028; 18250228
Phenotypes for gene: CYP4F2 were set to Warfarin dosage sensitivity MIM# 122700
Review for gene: CYP4F2 was set to GREEN
Added comment: It is involved in guidelines for warfarin
https://www.pharmgkb.org/gene/PA27121/overview
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 VKORC1 Claire Fryer-Smith reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14765194, 18315553, 14765194, 19940803; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473, Warfarin resistance MIM# 122700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Transplant Co-Morbidity Superpanel v0.4 NUDT15 Claire Fryer-Smith gene: NUDT15 was added
gene: NUDT15 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: NUDT15 was set to Other
Publications for gene: NUDT15 were set to 26878724
Phenotypes for gene: NUDT15 were set to Thiopurines, poor metabolism of, 2 MIM# 616903
Review for gene: NUDT15 was set to GREEN
Added comment: It is involved in guidelines for thiopurines including mercaptopurine and azathioprine.

https://www.pharmgkb.org/gene/PA134963132

Pathogenic variants in NUDT15 result in poor metabolism of thiopurines that was significantly associated with thiopurine-induced leukopenia. The NUDT15 deficiency trait follows an additive genetic mode of inheritance, with the severity of the phenotype proportional to the cumulative number of risk alleles in NUDT15.

Mechanistically, NUDT15 inactivated thiopurine metabolites and decreased thiopurine cytotoxicity in vitro, and patients with defective NUDT15 alleles showed excessive levels of thiopurine active metabolites and toxicity. (PMID: 26878724).
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 SLCO1B1 Claire Fryer-Smith gene: SLCO1B1 was added
gene: SLCO1B1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: SLCO1B1 was set to Other
Publications for gene: SLCO1B1 were set to 19952871; 5152405; 35968761
Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic MIM# 237450
Review for gene: SLCO1B1 was set to GREEN
Added comment: It is involved in guidelines for statins including CPIC guidelines for atorvastatin, simvastatin, and rosuvastatin. It is also implicated in a range of pharmacogenomic responses: https://www.pharmgkb.org/gene/PA134865839

Rotor type hyperbilirubinemia (HBLRR) is caused by digenic inheritance of homozygous mutations in the SLCO1B1 (MIM# 604843) and SLCO1B3 (MIM# 605495) genes. Van de Steeg et al. (2012) (PMID: 22232210) suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. SLCO1B1 single nucleotide polymorphisms and haplotypes have been implicated in altered pharmacokinetic handling and pharmacodynamic response

The solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene encodes for a membrane-bound sodium-independent organic anion transporter protein (OATP1B1). OATP1B1 mediates active transport of many endogenous substrates, such as bile acids, xenobiotic compounds, and a wide panel of pharmaceutical compounds. (PMID: 19952871)

SLCO1B1 variants are known to be a strong predictor of statin-associated muscle symptoms (SAMS) risk with simvastatin (PMID: 5152405).

Allelic variants of SLCO1B1 and ABCB1 predict the lipid-lowering efficacy of atorvastatin (PMID:35968761).
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 CYP2C9 Claire Fryer-Smith gene: CYP2C9 was added
gene: CYP2C9 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP2C9 were set to 12893985
Phenotypes for gene: CYP2C9 were set to Tolbutamide poor metabolizer, Warfarin sensitivity MIM# 122700
Review for gene: CYP2C9 was set to GREEN
Added comment: CYP2C9 is one of the major drug-metabolizing CYP450 isoforms. It is involved in guidelines for warfarin, phenytoin and NSAIDs (https://www.pharmgkb.org/gene/PA126).

CYP2C9 is the cytochrome P450 enzyme responsible for the metabolism of the isomer of warfarin (see 122700) that is principally responsible for the anticoagulant effect of the drug. Persons with the genotype of impaired metabolism require lower doses of warfarin to achieve an anticoagulant effect similar to that in patients with the normal genotype and are more likely to have an excessive anticoagulant response (PMID: 10073515).

Kirchheiner et al. (2003) (PMID: 12893985) studied the effects of CYP2C9 on celecoxib, a nonsteroidal antiinflammatory drug (NSAID) that is used to treat rheumatoid arthritis and osteoarthritis and exhibits antiinflammatory, analgesic, and antipyretic activity by selective inhibition of cyclooxygenase-2 (COX2; 600262). They found a more than 2-fold reduced oral clearance in homozygous carriers of CYP2C9*3; heterozygous carriers of 1 CYP2C9*3 allele were in between, whereas CYP2C9*2 had no significant influence on celecoxib pharmacokinetics.
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 CYP2C19 Claire Fryer-Smith gene: CYP2C19 was added
gene: CYP2C19 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CYP2C19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2C19 were set to 12464799
Phenotypes for gene: CYP2C19 were set to DRUG METABOLISM, POOR, CYP2C19-RELATED, MEPHENYTOIN, POOR METABOLISM OF, INCLUDED OMEPRAZOLE, POOR METABOLISM OF, INCLUDED PROGUANIL, POOR METABOLISM OF, INCLUDED CLOPIDOGREL, POOR METABOLISM OF, INCLUDED MIM#609535
Review for gene: CYP2C19 was set to GREEN
Added comment: Genetic polymorphism in the metabolism of the anticonvulsant drug mephenytoin exhibits marked racial heterogeneity. Patients carrying any 2 CYP2C19 loss-of-function alleles (*2, *3, *4, or *5), had a higher event rate than patients with none.

CYP2C19 is a clinically important enzyme (EC 1.14.13.80) that metabolizes a wide variety of drugs, including the anticonvulsant mephenytoin, anti-ulcer drugs such as omeprazole, certain antidepressants, and the antimalarial drug proguanil. Mutation in the CYP2C19 gene causes poor metabolism of these drugs (PMID: 12464799).

It is involved in guidelines for antidepressants, clopidogrel and voriconazole.
https://www.pharmgkb.org/gene/PA124
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 CFTR Claire Fryer-Smith gene: CFTR was added
gene: CFTR was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Congenital bilateral absence of vas deferens MIM#277180; Cystic fibrosis MIM#219700
Added comment: https://www.pharmgkb.org/vip/PA166169453/overview
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 CYP3A5 Claire Fryer-Smith gene: CYP3A5 was added
gene: CYP3A5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CYP3A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYP3A5 were set to Hypertension, salt-sensitive essential, susceptibility to MIM#145500
Review for gene: CYP3A5 was set to GREEN
Added comment: Involved in guidelines for tacrolimus.
CYP3A5 expression has extreme interpopulation variability.
Allelic variants at locus increases susceptibility to hypertension.

https://www.pharmgkb.org/gene/PA131/overview
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 TPMT Claire Fryer-Smith gene: TPMT was added
gene: TPMT was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: TPMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TPMT were set to Thiopurines, poor metabolism of, 1 MIM# 610460
Review for gene: TPMT was set to GREEN
Added comment: Alleles in TPMT are in guidelines for thiopurines including mercaptopurine and azathioprine.

https://www.pharmgkb.org/gene/PA356
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 UGT1A1 Claire Fryer-Smith gene: UGT1A1 was added
gene: UGT1A1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: UGT1A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Hyperbilirubinemia, familial transient neonatal MIM# 237900; Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785
Review for gene: UGT1A1 was set to GREEN
Added comment: Alleles in UGT1A1 are involved in guidelines for atazanavir and irinotecan.

https://www.pharmgkb.org/gene/PA420/overview
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 DPYD Claire Fryer-Smith changed review comment from: Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.

https://www.pharmgkb.org/gene/PA145/overview
Sources: Expert list; to: Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.

https://www.pharmgkb.org/gene/PA145/overview
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 DPYD Claire Fryer-Smith gene: DPYD was added
gene: DPYD was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: DPYD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MIM#274270; 5-fluorouracil toxicity MIM#274270; Disorders of pyrimidine metabolism
Review for gene: DPYD was set to GREEN
Added comment: Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.

https://www.pharmgkb.org/gene/PA145/overview
Sources: Expert list
Transplant Co-Morbidity Superpanel v0.4 Bryony Thompson HPO terms changed from Increased susceptibility to fractures, HP:0002659 to
Panel status changed from internal to public
Panel types changed to Melbourne Genomics; Royal Melbourne Hospital
Transplant Co-Morbidity Superpanel v0.3 SUFU Bryony Thompson Classified gene: SUFU as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.3 SUFU Bryony Thompson Gene: sufu has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.2 PTCH1 Bryony Thompson Classified gene: PTCH1 as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.2 PTCH1 Bryony Thompson Gene: ptch1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.1 FAM46A Bryony Thompson Classified gene: FAM46A as Green List (high evidence)
Transplant Co-Morbidity Superpanel v0.1 FAM46A Bryony Thompson Gene: fam46a has been classified as Green List (High Evidence).
Transplant Co-Morbidity Superpanel v0.0 XYLT2 Bryony Thompson gene: XYLT2 was added
gene: XYLT2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26987875; 26027496
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM#605822
Transplant Co-Morbidity Superpanel v0.0 WT1 Bryony Thompson gene: WT1 was added
gene: WT1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WT1 were set to 35802134
Phenotypes for gene: WT1 were set to Wilms' tumor MIM#194070
Transplant Co-Morbidity Superpanel v0.0 WNT1 Bryony Thompson gene: WNT1 was added
gene: WNT1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT1 were set to 23499310; 23499309; 23656646; 26671912
Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, MIM# 615220
Transplant Co-Morbidity Superpanel v0.0 WIPF1 Bryony Thompson gene: WIPF1 was added
gene: WIPF1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to 11869681; 14757742; 9405671; 27742395; 22231303
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
Transplant Co-Morbidity Superpanel v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27217304; 27185633
Phenotypes for gene: WFS1 were set to diabetes insipidus or optic atrophy; ?Cataract 41,116400; Wolfram syndrome, 222300; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296
Transplant Co-Morbidity Superpanel v0.0 WAS Bryony Thompson gene: WAS was added
gene: WAS was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900
Transplant Co-Morbidity Superpanel v0.0 VWF Bryony Thompson gene: VWF was added
gene: VWF was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: VWF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: VWF were set to von Willebrand disease, type 1, MIM#193400; von Willibrand disease, type 3, MIM#277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554
Transplant Co-Morbidity Superpanel v0.0 VPS33B Bryony Thompson gene: VPS33B was added
gene: VPS33B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 26399659; 16896922
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Transplant Co-Morbidity Superpanel v0.0 VKORC1 Bryony Thompson gene: VKORC1 was added
gene: VKORC1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to 14765194
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473
Transplant Co-Morbidity Superpanel v0.0 VIPAS39 Bryony Thompson gene: VIPAS39 was added
gene: VIPAS39 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Transplant Co-Morbidity Superpanel v0.0 VHL Bryony Thompson gene: VHL was added
gene: VHL was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome , MIM#193300
Transplant Co-Morbidity Superpanel v0.0 VCL Bryony Thompson gene: VCL was added
gene: VCL was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCL were set to 11815424; 26458567; 17785437; 31983221; 32516855; 26406308; 24062880
Phenotypes for gene: VCL were set to Cardiomyopathy, dilated, 1W, MIM# 611407
Transplant Co-Morbidity Superpanel v0.0 UQCRFS1 Bryony Thompson gene: UQCRFS1 was added
gene: UQCRFS1 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to fetal bradycardia; Mitochondrial Complex III deficiency; hypertrophic cardiomyopathy; lactic acidosis; alopecia totalis
Transplant Co-Morbidity Superpanel v0.0 TULP3 Bryony Thompson gene: TULP3 was added
gene: TULP3 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP3 were set to PMID: 35397207
Phenotypes for gene: TULP3 were set to Hepatorenocardiac degenerative fibrosis, MIM# 619902
Transplant Co-Morbidity Superpanel v0.0 TUBB1 Bryony Thompson gene: TUBB1 was added
gene: TUBB1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB1 were set to 31565851; 29333906; 32757236; 18849486
Phenotypes for gene: TUBB1 were set to Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112
Transplant Co-Morbidity Superpanel v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 28475415; 35802134; 31554435
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related MIM#105210
Transplant Co-Morbidity Superpanel v0.0 TTN Bryony Thompson gene: TTN was added
gene: TTN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTN were set to 25589632; 28045975; 22335739; 33947203; 34012068
Phenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G, MIM#604145
Transplant Co-Morbidity Superpanel v0.0 TSC2 Bryony Thompson gene: TSC2 was added
gene: TSC2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2, MIM# 613254
Transplant Co-Morbidity Superpanel v0.0 TSC1 Bryony Thompson gene: TSC1 was added
gene: TSC1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1, MIM# 191100
Transplant Co-Morbidity Superpanel v0.0 TRPV6 Bryony Thompson gene: TRPV6 was added
gene: TRPV6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, MIM# 618188
Transplant Co-Morbidity Superpanel v0.0 TRIM63 Bryony Thompson gene: TRIM63 was added
gene: TRIM63 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM63 were set to 32451364; 30681346
Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy, MONDO:0005045
Transplant Co-Morbidity Superpanel v0.0 TRDN Bryony Thompson gene: TRDN was added
gene: TRDN was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to 22422768; 31983240; 30649896; 25922419
Phenotypes for gene: TRDN were set to Long QT syndrome; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Transplant Co-Morbidity Superpanel v0.0 TPM4 Bryony Thompson gene: TPM4 was added
gene: TPM4 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM4 were set to 28134622; 21153663; 31249973
Phenotypes for gene: TPM4 were set to Macrothrombocytopenia
Transplant Co-Morbidity Superpanel v0.0 TPM1 Bryony Thompson gene: TPM1 was added
gene: TPM1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM1 were set to 11273725; 30681346; 15249230; 31270709; 21483645; 31983221; 23147248; 20117437; 28600229; 20215591
Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196; Cardiomyopathy, dilated, 1Y, MIM# 611878
Transplant Co-Morbidity Superpanel v0.0 TP53 Bryony Thompson gene: TP53 was added
gene: TP53 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP53 were set to Li-Fraumeni syndrome, MIM# 151623
Transplant Co-Morbidity Superpanel v0.0 TNXB Bryony Thompson gene: TNXB was added
gene: TNXB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408
Transplant Co-Morbidity Superpanel v0.0 TNNT2 Bryony Thompson gene: TNNT2 was added
gene: TNNT2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNT2 were set to 20031601; 33947203; 17556660, 30681346; 20978592; 15542288; 11106718
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, familial restrictive, 3, MIM# 612422; Cardiomyopathy, dilated, 1D, MIM# 601494; Left ventricular noncompaction 6, MIM# 601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195
Transplant Co-Morbidity Superpanel v0.0 TNNI3K Bryony Thompson gene: TNNI3K was added
gene: TNNI3K was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI3K were set to 29355681; 30010057
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
Transplant Co-Morbidity Superpanel v0.0 TNNI3 Bryony Thompson gene: TNNI3 was added
gene: TNNI3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TNNI3 were set to 2226790; 19590045; 30681346; 31568572; 22464770; 21846512; 15607392; 20215591
Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, hypertrophic, 7 , MIM#613690; Cardiomyopathy, familial restrictive, MIM#1 115210
Mode of pathogenicity for gene: TNNI3 was set to Other
Transplant Co-Morbidity Superpanel v0.0 TNNC1 Bryony Thompson gene: TNNC1 was added
gene: TNNC1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNC1 were set to 17977476; 33947203; 31983221; 19808376
Phenotypes for gene: TNNC1 were set to MONDO:0012745; Cardiomyopathy, dilated, 1Z, MIM# 611879
Transplant Co-Morbidity Superpanel v0.0 TMEM43 Bryony Thompson gene: TMEM43 was added
gene: TMEM43 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM43 were set to 22725725; 21214875; 29980933; 24598986; 18313022; 23812740; 33831308
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
Transplant Co-Morbidity Superpanel v0.0 TMEM38B Bryony Thompson gene: TMEM38B was added
gene: TMEM38B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM38B were set to 23054245; 28323974
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV , MIM#615066
Transplant Co-Morbidity Superpanel v0.0 TMEM127 Bryony Thompson gene: TMEM127 was added
gene: TMEM127 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM127 were set to 34012068
Phenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to} 171300
Transplant Co-Morbidity Superpanel v0.0 THPO Bryony Thompson gene: THPO was added
gene: THPO was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THPO were set to 10583217; 9425899
Phenotypes for gene: THPO were set to Thrombocythemia 1, MIM# 187950
Transplant Co-Morbidity Superpanel v0.0 THBD Bryony Thompson gene: THBD was added
gene: THBD was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THBD were set to 28267383; 25564403; 10627464; 32935436; 25049278; 32634856; 27436851
Phenotypes for gene: THBD were set to Bleeding disorder
Transplant Co-Morbidity Superpanel v0.0 TGFBR2 Bryony Thompson gene: TGFBR2 was added
gene: TGFBR2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2, MIM# 610168
Transplant Co-Morbidity Superpanel v0.0 TGFBR1 Bryony Thompson gene: TGFBR1 was added
gene: TGFBR1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1, MIM# 609192
Transplant Co-Morbidity Superpanel v0.0 TGFB3 Bryony Thompson gene: TGFB3 was added
gene: TGFB3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Loeys-Dietz syndrome 5, MIM# 615582
Transplant Co-Morbidity Superpanel v0.0 TGFB2 Bryony Thompson gene: TGFB2 was added
gene: TGFB2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, MIM# 614816
Transplant Co-Morbidity Superpanel v0.0 TECRL Bryony Thompson gene: TECRL was added
gene: TECRL was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECRL were set to 33367594; 17666061; 30790670; 27861123
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Transplant Co-Morbidity Superpanel v0.0 TBXAS1 Bryony Thompson gene: TBXAS1 was added
gene: TBXAS1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBXAS1 were set to 18264100
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095
Transplant Co-Morbidity Superpanel v0.0 TBX5 Bryony Thompson gene: TBX5 was added
gene: TBX5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX5 were set to 25725155; 32236096; 32449309; 25963046
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy
Transplant Co-Morbidity Superpanel v0.0 SUFU Bryony Thompson gene: SUFU was added
gene: SUFU was added to Transplant Co-Morbidity Superpanel. Sources: Expert List
Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SUFU were set to SUFU-related neurodevelopmental disorder
Transplant Co-Morbidity Superpanel v0.0 STIM1 Bryony Thompson gene: STIM1 was added
gene: STIM1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STIM1 were set to Stormorken syndrome, MIM# 185070
Transplant Co-Morbidity Superpanel v0.0 SRC Bryony Thompson gene: SRC was added
gene: SRC was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRC were set to 31204551; 26936507
Phenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM# 616937
Transplant Co-Morbidity Superpanel v0.0 SPARC Bryony Thompson gene: SPARC was added
gene: SPARC was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPARC were set to 34462290; 26027498
Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, MIM# 616507
Transplant Co-Morbidity Superpanel v0.0 SP7 Bryony Thompson gene: SP7 was added
gene: SP7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SP7 were set to 32413570; 29382611; 34091789; 20579626; 35367406
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849
Transplant Co-Morbidity Superpanel v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 30809044
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Thoracic aortic aneurysm
Transplant Co-Morbidity Superpanel v0.0 SMAD3 Bryony Thompson gene: SMAD3 was added
gene: SMAD3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3, MIM# 613795
Transplant Co-Morbidity Superpanel v0.0 SLFN14 Bryony Thompson gene: SLFN14 was added
gene: SLFN14 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLFN14 were set to 26280575; 26769223
Phenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913
Transplant Co-Morbidity Superpanel v0.0 SLC40A1 Bryony Thompson gene: SLC40A1 was added
gene: SLC40A1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069
Transplant Co-Morbidity Superpanel v0.0 SLC37A4 Bryony Thompson gene: SLC37A4 was added
gene: SLC37A4 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC37A4 were set to 33964207
Phenotypes for gene: SLC37A4 were set to liver dysfunction; Congenital disorder of glycosylation; coagulation deficiency
Transplant Co-Morbidity Superpanel v0.0 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, MIM# 208050
Transplant Co-Morbidity Superpanel v0.0 SKI Bryony Thompson gene: SKI was added
gene: SKI was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome, MIM# 182212
Transplant Co-Morbidity Superpanel v0.0 SGMS2 Bryony Thompson gene: SGMS2 was added
gene: SGMS2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 32028018; 30779713
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Transplant Co-Morbidity Superpanel v0.0 SERPINH1 Bryony Thompson gene: SERPINH1 was added
gene: SERPINH1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta
Transplant Co-Morbidity Superpanel v0.0 SERPINF2 Bryony Thompson gene: SERPINF2 was added
gene: SERPINF2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SERPINF2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SERPINF2 were set to 10583218; 31441040; 29656168; 31282989; 2572590
Phenotypes for gene: SERPINF2 were set to Alpha-2-plasmin inhibitor deficiency, MIM# 262850
Transplant Co-Morbidity Superpanel v0.0 SERPINF1 Bryony Thompson gene: SERPINF1 was added
gene: SERPINF1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINF1 were set to 28689307
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, MIM# 613982
Transplant Co-Morbidity Superpanel v0.0 SERPINE1 Bryony Thompson gene: SERPINE1 was added
gene: SERPINE1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SERPINE1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SERPINE1 were set to 15650551; 9207454
Phenotypes for gene: SERPINE1 were set to Plasminogen activator inhibitor-1 deficiency, MIM# 613329
Transplant Co-Morbidity Superpanel v0.0 SEC24D Bryony Thompson gene: SEC24D was added
gene: SEC24D was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24D were set to 26467156; 27942778; 30462379; 25683121
Phenotypes for gene: SEC24D were set to Cole-Carpenter syndrome 2, MIM# 616294
Transplant Co-Morbidity Superpanel v0.0 SDHD Bryony Thompson gene: SDHD was added
gene: SDHD was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHD were set to Pheochromocytoma, MIM# 171300; Paragangliomas 1, with or without deafness, MIM# 168000
Transplant Co-Morbidity Superpanel v0.0 SDHC Bryony Thompson gene: SDHC was added
gene: SDHC was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Paragangliomas 3, MIM# 605373
Transplant Co-Morbidity Superpanel v0.0 SDHB Bryony Thompson gene: SDHB was added
gene: SDHB was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Paragangliomas 4, MIM# 115310
Transplant Co-Morbidity Superpanel v0.0 SDHAF2 Bryony Thompson gene: SDHAF2 was added
gene: SDHAF2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHAF2 were set to Paragangliomas 2, MIM# 601650
Transplant Co-Morbidity Superpanel v0.0 SCN5A Bryony Thompson gene: SCN5A was added
gene: SCN5A was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to 21824921; 22766342; 22675453; 31520233; 29506689; 19808398; 15671429; 21596231; 29871609; 17512504; 31514951; 22999724; 31930659; 20458009; 30218094
Phenotypes for gene: SCN5A were set to Heart block, nonprogressive; Atrial fibrillation, familial, 10; Long QT syndrome 3; Ventricular fibrillation, familial, 1; Cardiomyopathy, dilated, 1E, MIM# 601154; Sick sinus syndrome 1; Heart block, progressive, type IA; Brugada syndrome 1; {Sudden infant death syndrome, susceptibility to}
Transplant Co-Morbidity Superpanel v0.0 RYR2 Bryony Thompson gene: RYR2 was added
gene: RYR2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2 , MIM#600996
Transplant Co-Morbidity Superpanel v0.0 RYR1 Bryony Thompson gene: RYR1 was added
gene: RYR1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, MIM#145600
Transplant Co-Morbidity Superpanel v0.0 RUNX1 Bryony Thompson gene: RUNX1 was added
gene: RUNX1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RUNX1 were set to 10508512
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Transplant Co-Morbidity Superpanel v0.0 RET Bryony Thompson gene: RET was added
gene: RET was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400
Transplant Co-Morbidity Superpanel v0.0 RBM8A Bryony Thompson gene: RBM8A was added
gene: RBM8A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
Transplant Co-Morbidity Superpanel v0.0 RBM20 Bryony Thompson gene: RBM20 was added
gene: RBM20 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBM20 were set to 33947203; 30871351; 35802134
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD MIM#613172 AD
Transplant Co-Morbidity Superpanel v0.0 RB1 Bryony Thompson gene: RB1 was added
gene: RB1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RB1 were set to Retinoblastoma MONDO:0008380
Transplant Co-Morbidity Superpanel v0.0 RASGRP2 Bryony Thompson gene: RASGRP2 was added
gene: RASGRP2 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 32041177; 24958846; 30849270; 32609603; 31724816
Phenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18, MIM# 615888
Transplant Co-Morbidity Superpanel v0.0 PTPN11 Bryony Thompson gene: PTPN11 was added
gene: PTPN11 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, MIM# 163950
Mode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Transplant Co-Morbidity Superpanel v0.0 PTEN Bryony Thompson gene: PTEN was added
gene: PTEN was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350
Transplant Co-Morbidity Superpanel v0.0 PTCH1 Bryony Thompson gene: PTCH1 was added
gene: PTCH1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert List
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7, MIM# 610828
Transplant Co-Morbidity Superpanel v0.0 PRKG1 Bryony Thompson gene: PRKG1 was added
gene: PRKG1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, MIM# 615436
Transplant Co-Morbidity Superpanel v0.0 PRKAG2 Bryony Thompson gene: PRKAG2 was added
gene: PRKAG2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 30681346
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6, MIM# 600858
Transplant Co-Morbidity Superpanel v0.0 PRDM16 Bryony Thompson gene: PRDM16 was added
gene: PRDM16 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM16 were set to 34540771; 34935411; 29367541; 24387995; 32183154; 33500567; 33082984; 34350506; 31965688; 29447731; PMID: 23768516; 30847666
Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction 8 MIM#615373; Cardiomyopathy, dilated, 1LL MIM#615373
Transplant Co-Morbidity Superpanel v0.0 PPIB Bryony Thompson gene: PPIB was added
gene: PPIB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIB were set to 32392875; 19781681
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, MIM# 259440
Transplant Co-Morbidity Superpanel v0.0 PPARG Bryony Thompson gene: PPARG was added
gene: PPARG was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to FPLD3; Lipodystrophy, familial partial, type 3; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Insulin resistance, severe, digenic; Obesity, severe, 601665; Carotid intimal medial thickness 1, 609338; Lipodystrophy, familial partial, type 3, 604367; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3 604367; [Obesity, resistance to]; Insulin resistance, severe, digenic 604367; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic, 604367
Transplant Co-Morbidity Superpanel v0.0 PMS2 Bryony Thompson gene: PMS2 was added
gene: PMS2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMS2 were set to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337
Transplant Co-Morbidity Superpanel v0.0 PLS3 Bryony Thompson gene: PLS3 was added
gene: PLS3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis
Transplant Co-Morbidity Superpanel v0.0 PLOD2 Bryony Thompson gene: PLOD2 was added
gene: PLOD2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD2 were set to 12881513; 22689593; 15523624
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2, MIM# 609220
Transplant Co-Morbidity Superpanel v0.0 PLN Bryony Thompson gene: PLN was added
gene: PLN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLN were set to 33947203; 30681346
Phenotypes for gene: PLN were set to Cardiomyopathy, hypertrophic, 18 (MIM #613874); Cardiomyopathy, dilated, 1P, MIM# 609909
Transplant Co-Morbidity Superpanel v0.0 PLAU Bryony Thompson gene: PLAU was added
gene: PLAU was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAU were set to 20007542
Phenotypes for gene: PLAU were set to Quebec platelet disorder, MIM# 601709
Transplant Co-Morbidity Superpanel v0.0 PLA2G4A Bryony Thompson gene: PLA2G4A was added
gene: PLA2G4A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLA2G4A were set to 23268370; 25102815; 18451993
Phenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372
Transplant Co-Morbidity Superpanel v0.0 PKP2 Bryony Thompson gene: PKP2 was added
gene: PKP2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKP2 were set to 33831308
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Transplant Co-Morbidity Superpanel v0.0 PCSK9 Bryony Thompson gene: PCSK9 was added
gene: PCSK9 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PCSK9 were set to Hypercholesterolemia, familial, 3, MIM# 603776
Transplant Co-Morbidity Superpanel v0.0 PAX6 Bryony Thompson gene: PAX6 was added
gene: PAX6 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to diabetes; Aniridia 106210
Transplant Co-Morbidity Superpanel v0.0 PALB2 Bryony Thompson gene: PALB2 was added
gene: PALB2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PALB2 were set to 34012068
Phenotypes for gene: PALB2 were set to {Breast cancer, susceptibility to} 114480
Transplant Co-Morbidity Superpanel v0.0 P4HB Bryony Thompson gene: P4HB was added
gene: P4HB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P4HB were set to 25683117; 30063094; 29384951; 29263160
Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240
Transplant Co-Morbidity Superpanel v0.0 P3H1 Bryony Thompson gene: P3H1 was added
gene: P3H1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P3H1 were set to 18566967; 17277775
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, (MIM# 610915)
Transplant Co-Morbidity Superpanel v0.0 P2RY12 Bryony Thompson gene: P2RY12 was added
gene: P2RY12 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: P2RY12 were set to 29117459; 11196645; 12578987; 19237732
Phenotypes for gene: P2RY12 were set to MONDO:0012354; Bleeding disorder, platelet-type, 8, MIM# 609821
Transplant Co-Morbidity Superpanel v0.0 NOTCH2 Bryony Thompson gene: NOTCH2 was added
gene: NOTCH2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2 were set to 21378989; 21378985; 16773578
Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome (MIM#102500)
Transplant Co-Morbidity Superpanel v0.0 NOTCH1 Bryony Thompson gene: NOTCH1 was added
gene: NOTCH1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to 26820064; 25963545; 16729972; 16025100
Phenotypes for gene: NOTCH1 were set to Aortic aneurysm
Transplant Co-Morbidity Superpanel v0.0 NF2 Bryony Thompson gene: NF2 was added
gene: NF2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis, type 2, MIM# 101000
Transplant Co-Morbidity Superpanel v0.0 NEXN Bryony Thompson gene: NEXN was added
gene: NEXN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEXN were set to 28416588; 27532257; 19881492; 24503780; 29540472; 25163546; 26659360
Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC, MIM# 613122
Transplant Co-Morbidity Superpanel v0.0 NEUROD1 Bryony Thompson gene: NEUROD1 was added
gene: NEUROD1 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 10545951; 26773576; 26669242; 20573748
Phenotypes for gene: NEUROD1 were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; Maturity-Onset Diabetes Of The Young; Permanent neonatal diabetes and cerebellar agenesis; MODY6; Maturity Onset Diabetes of the Young; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-onset diabetes of the young 6, 606394
Transplant Co-Morbidity Superpanel v0.0 NBEAL2 Bryony Thompson gene: NBEAL2 was added
gene: NBEAL2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBEAL2 were set to 21765412; 21765411; 21765413
Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090
Transplant Co-Morbidity Superpanel v0.0 NBAS Bryony Thompson gene: NBAS was added
gene: NBAS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 29955634; 27789416
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; immunodeficiency; short stature; bone fragility; developmental delay; autism
Transplant Co-Morbidity Superpanel v0.0 MYLK Bryony Thompson gene: MYLK was added
gene: MYLK was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7, MIM# 613780
Transplant Co-Morbidity Superpanel v0.0 MYL3 Bryony Thompson gene: MYL3 was added
gene: MYL3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYL3 were set to 30681346
Phenotypes for gene: MYL3 were set to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Transplant Co-Morbidity Superpanel v0.0 MYL2 Bryony Thompson gene: MYL2 was added
gene: MYL2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYL2 were set to 30681346
Phenotypes for gene: MYL2 were set to Cardiomyopathy, hypertrophic, 10, MIM# 608758
Transplant Co-Morbidity Superpanel v0.0 MYH9 Bryony Thompson gene: MYH9 was added
gene: MYH9 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Transplant Co-Morbidity Superpanel v0.0 MYH7 Bryony Thompson gene: MYH7 was added
gene: MYH7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH7 were set to 30874888; 25935763; 30384889; 30681346; 24119082; 21483645; 27000522; 24558114; 21846512; 33947203; 31179125; 27965028
Phenotypes for gene: MYH7 were set to MONDO:0013262; Cardiomyopathy, dilated, 1S, MIM# 613426; Cardiomyopathy, hypertrophic, 1, MIM# 192600
Transplant Co-Morbidity Superpanel v0.0 MYH11 Bryony Thompson gene: MYH11 was added
gene: MYH11 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, MIM# 132900
Transplant Co-Morbidity Superpanel v0.0 MYBPC3 Bryony Thompson gene: MYBPC3 was added
gene: MYBPC3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to 30681346; 20378854
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, dilated, 1MM, MIM# 615396; Left ventricular noncompaction 10, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197
Transplant Co-Morbidity Superpanel v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTTP were set to 30720493; 27604308; 8533758
Phenotypes for gene: MTTP were set to Inherited hypolipidaemias; Abetalipoproteinemia MIM#200100
Transplant Co-Morbidity Superpanel v0.0 MSH6 Bryony Thompson gene: MSH6 was added
gene: MSH6 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350
Transplant Co-Morbidity Superpanel v0.0 MSH2 Bryony Thompson gene: MSH2 was added
gene: MSH2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH2 were set to Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435
Transplant Co-Morbidity Superpanel v0.0 MPL Bryony Thompson gene: MPL was added
gene: MPL was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPL were set to 11133753
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Transplant Co-Morbidity Superpanel v0.0 MPIG6B Bryony Thompson gene: MPIG6B was added
gene: MPIG6B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPIG6B were set to 29898956; 31276734; 27743390
Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
Transplant Co-Morbidity Superpanel v0.0 MPI Bryony Thompson gene: MPI was added
gene: MPI was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 32266963; 10980531; 12414827; 33098580; 32905087; 30242110; 33204592; 9585601
Phenotypes for gene: MPI were set to MPI-CDG MONDO:0011257; Congenital disorder of glycosylation, type Ib, MIM# 602579
Transplant Co-Morbidity Superpanel v0.0 MLH1 Bryony Thompson gene: MLH1 was added
gene: MLH1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MLH1 were set to Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310
Transplant Co-Morbidity Superpanel v0.0 MESD Bryony Thompson gene: MESD was added
gene: MESD was added to Transplant Co-Morbidity Superpanel. Sources: Other,Expert Review Green
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Transplant Co-Morbidity Superpanel v0.0 MEN1 Bryony Thompson gene: MEN1 was added
gene: MEN1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1, MIM# 131100
Transplant Co-Morbidity Superpanel v0.0 MED12 Bryony Thompson gene: MED12 was added
gene: MED12 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, MIM# 309520
Transplant Co-Morbidity Superpanel v0.0 MECOM Bryony Thompson gene: MECOM was added
gene: MECOM was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738
Transplant Co-Morbidity Superpanel v0.0 MCFD2 Bryony Thompson gene: MCFD2 was added
gene: MCFD2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCFD2 were set to 16304051; 18391077; 12717434
Phenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331
Transplant Co-Morbidity Superpanel v0.0 MAX Bryony Thompson gene: MAX was added
gene: MAX was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to 34012068
Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to} 171300
Transplant Co-Morbidity Superpanel v0.0 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM# 214500
Transplant Co-Morbidity Superpanel v0.0 LRP5 Bryony Thompson gene: LRP5 was added
gene: LRP5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant 1, MIM# 607634
Transplant Co-Morbidity Superpanel v0.0 LPL Bryony Thompson gene: LPL was added
gene: LPL was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial
Transplant Co-Morbidity Superpanel v0.0 LOX Bryony Thompson gene: LOX was added
gene: LOX was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LOX were set to 30675029; 30071989; 26838787
Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, MIM# 617168
Transplant Co-Morbidity Superpanel v0.0 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 33947203
Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A, MIM# 115200
Transplant Co-Morbidity Superpanel v0.0 LMF1 Bryony Thompson gene: LMF1 was added
gene: LMF1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMF1 were set to Combined lipase deficiency
Transplant Co-Morbidity Superpanel v0.0 LMAN1 Bryony Thompson gene: LMAN1 was added
gene: LMAN1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMAN1 were set to 16304051; 9546392
Phenotypes for gene: LMAN1 were set to MONDO:0009206; Combined factor V and VIII deficiency, MIM# 227300
Transplant Co-Morbidity Superpanel v0.0 LIPC Bryony Thompson gene: LIPC was added
gene: LIPC was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LIPC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LIPC were set to 1671786; 12777476; 23219720; 26423094; 1883393; 22464213
Phenotypes for gene: LIPC were set to Inherited mixed hyperlipidaemias; Hepatic lipase deficiency MIM#614025; hyperalphalipoproteinemia
Transplant Co-Morbidity Superpanel v0.0 LIPA Bryony Thompson gene: LIPA was added
gene: LIPA was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease
Transplant Co-Morbidity Superpanel v0.0 LDLRAP1 Bryony Thompson gene: LDLRAP1 was added
gene: LDLRAP1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDLRAP1 were set to 4351242
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, 4, MIM# 603813
Transplant Co-Morbidity Superpanel v0.0 LDLR Bryony Thompson gene: LDLR was added
gene: LDLR was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LDLR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to Hypercholesterolemia, familial, 1, MIM# 143890
Transplant Co-Morbidity Superpanel v0.0 LCAT Bryony Thompson gene: LCAT was added
gene: LCAT was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 30720493; 6624548
Phenotypes for gene: LCAT were set to Disorders of high density lipoprotein metabolism; Norum disease MIM#245900; Fish-eye disease MIM#136120
Transplant Co-Morbidity Superpanel v0.0 LAMP2 Bryony Thompson gene: LAMP2 was added
gene: LAMP2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAMP2 were set to 25228319; 27165304; 30681346
Phenotypes for gene: LAMP2 were set to Danon disease, MIM#300257
Transplant Co-Morbidity Superpanel v0.0 KLHL24 Bryony Thompson gene: KLHL24 was added
gene: KLHL24 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: KLHL24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 27798626; 30715372; 27889062
Phenotypes for gene: KLHL24 were set to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236
Transplant Co-Morbidity Superpanel v0.0 KDSR Bryony Thompson gene: KDSR was added
gene: KDSR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28774589; 30467204
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Transplant Co-Morbidity Superpanel v0.0 KDELR2 Bryony Thompson gene: KDELR2 was added
gene: KDELR2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDELR2 were set to 33053334
Phenotypes for gene: KDELR2 were set to Increased susceptibility to fractures; Bowing of the legs; Osteogenesis imperfecta 21, MIM# 619131; joint hypermobility; Bowing of the arms; Scoliosis
Transplant Co-Morbidity Superpanel v0.0 KCNQ1 Bryony Thompson gene: KCNQ1 was added
gene: KCNQ1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KCNQ1 were set to 20301308; 34557911
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, MIM# 192500; Long QT syndrome 1, 192500; Atrial fibrillation, familial, 3 607554; Short QT syndrome 2 609621
Transplant Co-Morbidity Superpanel v0.0 KCNJ2 Bryony Thompson gene: KCNJ2 was added
gene: KCNJ2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ2 were set to 31983240; 34557911
Phenotypes for gene: KCNJ2 were set to Short QT syndrome; long QT syndrome; Andersen-Tawil syndrome
Transplant Co-Morbidity Superpanel v0.0 KCNJ11 Bryony Thompson gene: KCNJ11 was added
gene: KCNJ11 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ11 were set to Diabetes mellitus, trans; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Transient Neonatal diabetes mellitus (Dominant); {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Diabetes, permanent neonatal, 606176; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Transient Neonatal, 3; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Transient Neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2, 601820
Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Transplant Co-Morbidity Superpanel v0.0 KCNH2 Bryony Thompson gene: KCNH2 was added
gene: KCNH2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to 31983240
Phenotypes for gene: KCNH2 were set to Long QT syndrome 2, MIM# 613688; Short QT syndrome
Transplant Co-Morbidity Superpanel v0.0 JUP Bryony Thompson gene: JUP was added
gene: JUP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: JUP were set to 17924338; 33831308; 16722579
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214
Transplant Co-Morbidity Superpanel v0.0 ITGB3 Bryony Thompson gene: ITGB3 was added
gene: ITGB3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ITGB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITGB3 were set to 19336737; 20081061; 18065693; 23253071
Phenotypes for gene: ITGB3 were set to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552
Transplant Co-Morbidity Superpanel v0.0 ITGA2B Bryony Thompson gene: ITGA2B was added
gene: ITGA2B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ITGA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ITGA2B were set to 21454453; 8282784; 1638023; 16463284
Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800; MONDO:000855; Bleeding disorder, platelet-type, 16, MIM# 187800
Transplant Co-Morbidity Superpanel v0.0 INSR Bryony Thompson gene: INSR was added
gene: INSR was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSR were set to 8288049
Phenotypes for gene: INSR were set to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; OMIM 610549; Rabson-Mendenhall syndrome, 262190; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Leprechaunism, 246200; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
Transplant Co-Morbidity Superpanel v0.0 INS Bryony Thompson gene: INS was added
gene: INS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Permanent Neonatal diabetes mellitus; Maturity Onset Diabetes of the Young; MODY10
Transplant Co-Morbidity Superpanel v0.0 IKZF5 Bryony Thompson gene: IKZF5 was added
gene: IKZF5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia 7, MIM#619130
Transplant Co-Morbidity Superpanel v0.0 IFITM5 Bryony Thompson gene: IFITM5 was added
gene: IFITM5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFITM5 were set to 22863195; 22863190; 32383316; 24519609
Phenotypes for gene: IFITM5 were set to Osteogenesis imperfecta type V, MIM#610967
Mode of pathogenicity for gene: IFITM5 was set to Other
Transplant Co-Morbidity Superpanel v0.0 HRG Bryony Thompson gene: HRG was added
gene: HRG was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRG were set to 11057869; 8236132; 29108964
Phenotypes for gene: HRG were set to Thrombophilia 11 due to HRG deficiency, MIM# 613116
Transplant Co-Morbidity Superpanel v0.0 HPS6 Bryony Thompson gene: HPS6 was added
gene: HPS6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS6 were set to 12548288; 19843503; 17041891
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Transplant Co-Morbidity Superpanel v0.0 HPS5 Bryony Thompson gene: HPS5 was added
gene: HPS5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS5 were set to 28296950; 32725903
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5 (MIM#614074)
Transplant Co-Morbidity Superpanel v0.0 HPS4 Bryony Thompson gene: HPS4 was added
gene: HPS4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS4 were set to 12664304; 11836498
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Transplant Co-Morbidity Superpanel v0.0 HPS3 Bryony Thompson gene: HPS3 was added
gene: HPS3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS3 were set to 30990103; 11455388; 31621111; 31880485
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Transplant Co-Morbidity Superpanel v0.0 HPS1 Bryony Thompson gene: HPS1 was added
gene: HPS1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS1 were set to 9497254
Phenotypes for gene: HPS1 were set to MONDO:0008748; Hermansky-Pudlak syndrome 1, MIM# 203300
Transplant Co-Morbidity Superpanel v0.0 HNF4A Bryony Thompson gene: HNF4A was added
gene: HNF4A was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 28242437
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1
Transplant Co-Morbidity Superpanel v0.0 HNF1B Bryony Thompson gene: HNF1B was added
gene: HNF1B was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Transient neonatal diabetes; RCAD; RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome
Transplant Co-Morbidity Superpanel v0.0 HNF1A Bryony Thompson gene: HNF1A was added
gene: HNF1A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1A were set to 34012068
Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496
Transplant Co-Morbidity Superpanel v0.0 HFE Bryony Thompson gene: HFE was added
gene: HFE was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Haemochromatosis, MIM# 235200
Transplant Co-Morbidity Superpanel v0.0 HCN4 Bryony Thompson gene: HCN4 was added
gene: HCN4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCN4 were set to 15123648; 16407510; 12750403; 25145518; 17646576
Phenotypes for gene: HCN4 were set to Sick sinus syndrome 2, MIM# 163800
Transplant Co-Morbidity Superpanel v0.0 GPIHBP1 Bryony Thompson gene: GPIHBP1 was added
gene: GPIHBP1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Royal Melbourne Hospital,Expert list
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type ID
Transplant Co-Morbidity Superpanel v0.0 GP9 Bryony Thompson gene: GP9 was added
gene: GP9 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GP9 were set to 32030720; 8049428; 33553065; 31484196
Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome, type C, MIM# 231200
Transplant Co-Morbidity Superpanel v0.0 GP6 Bryony Thompson gene: GP6 was added
gene: GP6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GP6 were set to 19549989; 23815599; 19552682
Phenotypes for gene: GP6 were set to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623
Transplant Co-Morbidity Superpanel v0.0 GP1BB Bryony Thompson gene: GP1BB was added
gene: GP1BB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GP1BB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GP1BB were set to 33813986; 33657022; 11222377; 8703016; 10887115; 9116284; 33216977; 1730088; 31997307
Phenotypes for gene: GP1BB were set to Macrothrombocytopaenia; Bernard-Soulier syndrome, type B, MIM# 231200
Transplant Co-Morbidity Superpanel v0.0 GP1BA Bryony Thompson gene: GP1BA was added
gene: GP1BA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GP1BA were set to 24934643
Phenotypes for gene: GP1BA were set to MONDO:0007930; MONDO:0008332; Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)
Transplant Co-Morbidity Superpanel v0.0 GORAB Bryony Thompson gene: GORAB was added
gene: GORAB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, MIM# 231070
Transplant Co-Morbidity Superpanel v0.0 GNE Bryony Thompson gene: GNE was added
gene: GNE was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 30171045; 25257349; 32505938; 29941673
Phenotypes for gene: GNE were set to Thrombocytopaenia; Myopathy
Transplant Co-Morbidity Superpanel v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 30681346
Phenotypes for gene: GLA were set to Fabry disease (MIM# 301500)
Transplant Co-Morbidity Superpanel v0.0 GGCX Bryony Thompson gene: GGCX was added
gene: GGCX was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGCX were set to 32785662; 26758921; 30531603
Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450
Transplant Co-Morbidity Superpanel v0.0 GFI1B Bryony Thompson gene: GFI1B was added
gene: GFI1B was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GFI1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GFI1B were set to 24325358; 28041820; 11825872; 23927492
Phenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17 MIM#187900
Transplant Co-Morbidity Superpanel v0.0 GCK Bryony Thompson gene: GCK was added
gene: GCK was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCK were set to 19790256
Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853)
Transplant Co-Morbidity Superpanel v0.0 GBA Bryony Thompson gene: GBA was added
gene: GBA was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease
Transplant Co-Morbidity Superpanel v0.0 GATA6 Bryony Thompson gene: GATA6 was added
gene: GATA6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, 600001; Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474
Transplant Co-Morbidity Superpanel v0.0 GATA4 Bryony Thompson gene: GATA4 was added
gene: GATA4 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,UKGTN,Expert Review Green
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA4 were set to 20854389; 27810688; 24696446
Transplant Co-Morbidity Superpanel v0.0 GATA1 Bryony Thompson gene: GATA1 was added
gene: GATA1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367
Transplant Co-Morbidity Superpanel v0.0 G6PD Bryony Thompson gene: G6PD was added
gene: G6PD was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: G6PD were set to Haemolytic anaemia
Transplant Co-Morbidity Superpanel v0.0 FLNC Bryony Thompson gene: FLNC was added
gene: FLNC was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to 28356264; 30411535; 31924696
Phenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26; Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy
Transplant Co-Morbidity Superpanel v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FLNA were set to 32299270
Phenotypes for gene: FLNA were set to Macrothrombocytopaenia
Transplant Co-Morbidity Superpanel v0.0 FLI1 Bryony Thompson gene: FLI1 was added
gene: FLI1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLI1 were set to 28255014; 24100448; 26316623
Phenotypes for gene: FLI1 were set to Bleeding disorder, platelet-type, 21, MIM# 617443
Transplant Co-Morbidity Superpanel v0.0 FKRP Bryony Thompson gene: FKRP was added
gene: FKRP was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to PMID: 32914449
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
Transplant Co-Morbidity Superpanel v0.0 FKBP10 Bryony Thompson gene: FKBP10 was added
gene: FKBP10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, 610968
Transplant Co-Morbidity Superpanel v0.0 FHOD3 Bryony Thompson gene: FHOD3 was added
gene: FHOD3 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FHOD3 were set to 30442288; 33586461; 32335906; 31742804
Phenotypes for gene: FHOD3 were set to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Transplant Co-Morbidity Superpanel v0.0 FHL1 Bryony Thompson gene: FHL1 was added
gene: FHL1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Transplant Co-Morbidity Superpanel v0.0 FGG Bryony Thompson gene: FGG was added
gene: FGG was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGG were set to 3337908; 11001903; 11001902
Phenotypes for gene: FGG were set to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Transplant Co-Morbidity Superpanel v0.0 FGB Bryony Thompson gene: FGB was added
gene: FGB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGB were set to 12393540; 16195396
Phenotypes for gene: FGB were set to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Transplant Co-Morbidity Superpanel v0.0 FGA Bryony Thompson gene: FGA was added
gene: FGA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGA were set to 17295221; 11739173; 19073821; 31064749
Phenotypes for gene: FGA were set to Afibrinogenemia, congenital (MIM#202400)
Transplant Co-Morbidity Superpanel v0.0 FERMT3 Bryony Thompson gene: FERMT3 was added
gene: FERMT3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840
Transplant Co-Morbidity Superpanel v0.0 FBN1 Bryony Thompson gene: FBN1 was added
gene: FBN1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700
Transplant Co-Morbidity Superpanel v0.0 FAM46A Bryony Thompson gene: FAM46A was added
gene: FAM46A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green, Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII, MIM# 617952
Transplant Co-Morbidity Superpanel v0.0 F9 Bryony Thompson gene: F9 was added
gene: F9 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: F9 were set to 33656538; 34015304; 19846852
Phenotypes for gene: F9 were set to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; MONDO:0010432; MONDO:0010604
Transplant Co-Morbidity Superpanel v0.0 F8 Bryony Thompson gene: F8 was added
gene: F8 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: F8 were set to 2986011; 3097553
Phenotypes for gene: F8 were set to Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071; MONDO:0010602; Haemophilia A, MIM# 306700
Transplant Co-Morbidity Superpanel v0.0 F7 Bryony Thompson gene: F7 was added
gene: F7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F7 were set to 12181036
Phenotypes for gene: F7 were set to MONDO:0009211; Factor VII deficiency, MIM# 227500
Transplant Co-Morbidity Superpanel v0.0 F5 Bryony Thompson gene: F5 was added
gene: F5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to MONDO:0009210; Factor V deficiency, MIM# 227400; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; MONDO:0008560; Thrombophilia due to activated protein C resistance, MIM# 188055
Transplant Co-Morbidity Superpanel v0.0 F2 Bryony Thompson gene: F2 was added
gene: F2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: F2 were set to 30297698
Phenotypes for gene: F2 were set to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD; {Stroke, ischemic, susceptibility to} 601367 Mu
Mode of pathogenicity for gene: F2 was set to Other
Transplant Co-Morbidity Superpanel v0.0 F13B Bryony Thompson gene: F13B was added
gene: F13B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F13B were set to 26247044; 20331752
Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM#613235
Transplant Co-Morbidity Superpanel v0.0 F13A1 Bryony Thompson gene: F13A1 was added
gene: F13A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F13A1 were set to 1644910; 10027709; 7727776; 32060721; 33802692
Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187
Transplant Co-Morbidity Superpanel v0.0 F11 Bryony Thompson gene: F11 was added
gene: F11 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: F11 were set to 18446632; 15026311
Phenotypes for gene: F11 were set to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416
Transplant Co-Morbidity Superpanel v0.0 F10 Bryony Thompson gene: F10 was added
gene: F10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F10 were set to 2567188; 10746568; 2790181; 12028042
Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600; MONDO:0009212
Transplant Co-Morbidity Superpanel v0.0 ETV6 Bryony Thompson gene: ETV6 was added
gene: ETV6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETV6 were set to 25807284; 25581430
Phenotypes for gene: ETV6 were set to Thrombocytopaenia 5, MIM# 616216
Transplant Co-Morbidity Superpanel v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENG were set to 34012068
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Transplant Co-Morbidity Superpanel v0.0 EIF2B1 Bryony Thompson gene: EIF2B1 was added
gene: EIF2B1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2B1 were set to 31882561
Phenotypes for gene: EIF2B1 were set to Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Transplant Co-Morbidity Superpanel v0.0 DTNBP1 Bryony Thompson gene: DTNBP1 was added
gene: DTNBP1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTNBP1 were set to 23364359; 30990103; 12923531; 28259707
Phenotypes for gene: DTNBP1 were set to MONDO:0013559; Hermansky-Pudlak syndrome 7, MIM# 614076
Transplant Co-Morbidity Superpanel v0.0 DSP Bryony Thompson gene: DSP was added
gene: DSP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSP were set to 24938629; 20864495; 22240500; 25765472; 11063735; 24108106; 31073624; 15941723; 31983221; 21397041; 23954618; 30345701; 33831308
Phenotypes for gene: DSP were set to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Carvajal syndrome; Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676
Transplant Co-Morbidity Superpanel v0.0 DSG2 Bryony Thompson gene: DSG2 was added
gene: DSG2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSG2 were set to 33831308
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Transplant Co-Morbidity Superpanel v0.0 DSC2 Bryony Thompson gene: DSC2 was added
gene: DSC2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 28339476; 18957847; 23863954; 17963498; 17033975; 17186466; 21062920; 33831308
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
Transplant Co-Morbidity Superpanel v0.0 DMD Bryony Thompson gene: DMD was added
gene: DMD was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DMD were set to 26066469
Phenotypes for gene: DMD were set to Cardiomyopathy, dilated, 3B (MIM#302045)
Transplant Co-Morbidity Superpanel v0.0 DIAPH1 Bryony Thompson gene: DIAPH1 was added
gene: DIAPH1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIAPH1 were set to 27808407]; 26912466
Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Transplant Co-Morbidity Superpanel v0.0 DES Bryony Thompson gene: DES was added
gene: DES was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DES were set to 23168288; 20423733; 20829228; 19879535; 22395865; 24200904; 29212896
Phenotypes for gene: DES were set to Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419
Transplant Co-Morbidity Superpanel v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 30720493; 20301583; 2019602
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700
Transplant Co-Morbidity Superpanel v0.0 CYCS Bryony Thompson gene: CYCS was added
gene: CYCS was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYCS were set to 24326104; 30051457; 18345000
Phenotypes for gene: CYCS were set to Thrombocytopenia 4, MIM# 612004
Transplant Co-Morbidity Superpanel v0.0 CSRP3 Bryony Thompson gene: CSRP3 was added
gene: CSRP3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSRP3 were set to 18505755; 30681346
Phenotypes for gene: CSRP3 were set to Cardiomyopathy, hypertrophic, 12, MIM# 612124
Transplant Co-Morbidity Superpanel v0.0 CRTAP Bryony Thompson gene: CRTAP was added
gene: CRTAP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRTAP were set to 21955071; 17192541; 19846465
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII MIM#610682
Transplant Co-Morbidity Superpanel v0.0 CREB3L1 Bryony Thompson gene: CREB3L1 was added
gene: CREB3L1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CREB3L1 were set to 24079343; 29936144; 30657919; 28817112
Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229
Transplant Co-Morbidity Superpanel v0.0 COPB2 Bryony Thompson gene: COPB2 was added
gene: COPB2 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COPB2 were set to 34450031
Phenotypes for gene: COPB2 were set to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Transplant Co-Morbidity Superpanel v0.0 COL3A1 Bryony Thompson gene: COL3A1 was added
gene: COL3A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, MIM# 130050
Transplant Co-Morbidity Superpanel v0.0 COL1A2 Bryony Thompson gene: COL1A2 was added
gene: COL1A2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120
Transplant Co-Morbidity Superpanel v0.0 COL1A1 Bryony Thompson gene: COL1A1 was added
gene: COL1A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta
Transplant Co-Morbidity Superpanel v0.0 CHST14 Bryony Thompson gene: CHST14 was added
gene: CHST14 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CHST14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Transplant Co-Morbidity Superpanel v0.0 CDKN2A Bryony Thompson gene: CDKN2A was added
gene: CDKN2A was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transplant Co-Morbidity Superpanel v0.0 CDK4 Bryony Thompson gene: CDK4 was added
gene: CDK4 was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDK4 were set to Melanoma, cutaneous malignant, MIM#609408
Transplant Co-Morbidity Superpanel v0.0 CDC42 Bryony Thompson gene: CDC42 was added
gene: CDC42 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to 29394990
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome, MIM#616737
Transplant Co-Morbidity Superpanel v0.0 CCDC134 Bryony Thompson gene: CCDC134 was added
gene: CCDC134 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CCDC134 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC134 were set to 32181939; 35019224; 34204301
Phenotypes for gene: CCDC134 were set to Osteogenesis imperfecta, type XXII, MIM#619795
Transplant Co-Morbidity Superpanel v0.0 CASR Bryony Thompson gene: CASR was added
gene: CASR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CASR were set to 22620673
Phenotypes for gene: CASR were set to severe hypercalcemia, bone demineralization, multiple fractures; Hyperparathyroidism, neonatal, MIM# 239200
Transplant Co-Morbidity Superpanel v0.0 CASQ2 Bryony Thompson gene: CASQ2 was added
gene: CASQ2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CASQ2 were set to 16908766; 11704930; 34012068
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Transplant Co-Morbidity Superpanel v0.0 CALM3 Bryony Thompson gene: CALM3 was added
gene: CALM3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM3 were set to 25460178; 31454269
Phenotypes for gene: CALM3 were set to Long QT syndrome 16, MIM# 618782
Transplant Co-Morbidity Superpanel v0.0 CALM2 Bryony Thompson gene: CALM2 was added
gene: CALM2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM2 were set to 31983240; 31170290
Phenotypes for gene: CALM2 were set to Long QT syndrome 15 616249; idopathic VF; sudden unexplained death
Transplant Co-Morbidity Superpanel v0.0 CALM1 Bryony Thompson gene: CALM1 was added
gene: CALM1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM1 were set to 31170290
Phenotypes for gene: CALM1 were set to Long QT syndrome 14 616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 614916
Transplant Co-Morbidity Superpanel v0.0 CACNA1S Bryony Thompson gene: CACNA1S was added
gene: CACNA1S was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1S were set to Malignant hyperthermia susceptibility 5, MIM# 601887
Transplant Co-Morbidity Superpanel v0.0 CACNA1C Bryony Thompson gene: CACNA1C was added
gene: CACNA1C was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to 31983240
Phenotypes for gene: CACNA1C were set to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005
Transplant Co-Morbidity Superpanel v0.0 C1QBP Bryony Thompson gene: C1QBP was added
gene: C1QBP was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713
Transplant Co-Morbidity Superpanel v0.0 BRCA2 Bryony Thompson gene: BRCA2 was added
gene: BRCA2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA2 were set to Breast-ovarian cancer, familial, 2, MIM#612555
Transplant Co-Morbidity Superpanel v0.0 BRCA1 Bryony Thompson gene: BRCA1 was added
gene: BRCA1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1, MIM# 604370
Transplant Co-Morbidity Superpanel v0.0 BMPR1A Bryony Thompson gene: BMPR1A was added
gene: BMPR1A was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900
Transplant Co-Morbidity Superpanel v0.0 BMP1 Bryony Thompson gene: BMP1 was added
gene: BMP1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP1 were set to 25214535; 25402547; 22052668; 22482805
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII , MIM#614856
Transplant Co-Morbidity Superpanel v0.0 BLOC1S6 Bryony Thompson gene: BLOC1S6 was added
gene: BLOC1S6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S6 were set to 29054114; 33543539; 22461475; 26575419; 32245340; 10610180
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, MIM# 614171
Transplant Co-Morbidity Superpanel v0.0 BLOC1S5 Bryony Thompson gene: BLOC1S5 was added
gene: BLOC1S5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S5 were set to PMID: 32565547
Phenotypes for gene: BLOC1S5 were set to Hermansky Pudlak syndrome type 11, MIM#619172
Transplant Co-Morbidity Superpanel v0.0 BLOC1S3 Bryony Thompson gene: BLOC1S3 was added
gene: BLOC1S3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S3 were set to 32687635; 16385460; 22709368
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Transplant Co-Morbidity Superpanel v0.0 BAP1 Bryony Thompson gene: BAP1 was added
gene: BAP1 was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAP1 were set to Tumour predisposition syndrome, MIM#614327
Transplant Co-Morbidity Superpanel v0.0 BAG5 Bryony Thompson gene: BAG5 was added
gene: BAG5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BAG5 were set to 35044787
Phenotypes for gene: BAG5 were set to Cardiomyopathy, dilated, 2F, MIM# 619747
Transplant Co-Morbidity Superpanel v0.0 BAG3 Bryony Thompson gene: BAG3 was added
gene: BAG3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAG3 were set to 25448463; 24623017; 21353195; 29323723; 28737513; 27391596; 25008357; 35802134; 30442290; 31983221; 33947203; 28211974
Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH, MIM# 613881; MONDO:0013479; Myopathy, myofibrillar, 6, MIM# 612954
Transplant Co-Morbidity Superpanel v0.0 B4GALT7 Bryony Thompson gene: B4GALT7 was added
gene: B4GALT7 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 26940150
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Transplant Co-Morbidity Superpanel v0.0 B3GALT6 Bryony Thompson gene: B3GALT6 was added
gene: B3GALT6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALT6 were set to 23664118; 23664117
Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Transplant Co-Morbidity Superpanel v0.0 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease, MIM# 277900
Transplant Co-Morbidity Superpanel v0.0 ARPC1B Bryony Thompson gene: ARPC1B was added
gene: ARPC1B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC1B were set to 29127144; 27965109; 28368018; 30254128
Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718
Transplant Co-Morbidity Superpanel v0.0 APOE Bryony Thompson gene: APOE was added
gene: APOE was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOE were set to Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy
Transplant Co-Morbidity Superpanel v0.0 APOC2 Bryony Thompson gene: APOC2 was added
gene: APOC2 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOC2 were set to 32280258; 32292609; PMID: 32562799; 26044956
Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib MIM#207750
Transplant Co-Morbidity Superpanel v0.0 APOB Bryony Thompson gene: APOB was added
gene: APOB was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, Hypercholesterolemia
Transplant Co-Morbidity Superpanel v0.0 APOA5 Bryony Thompson gene: APOA5 was added
gene: APOA5 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOA5 were set to Hyperchylomicronemia
Transplant Co-Morbidity Superpanel v0.0 APOA1 Bryony Thompson gene: APOA1 was added
gene: APOA1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: APOA1 were set to 16023124
Phenotypes for gene: APOA1 were set to Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836
Transplant Co-Morbidity Superpanel v0.0 APC Bryony Thompson gene: APC was added
gene: APC was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APC were set to Adenomatous polyposis coli, MIM# 175100
Transplant Co-Morbidity Superpanel v0.0 AP3B1 Bryony Thompson gene: AP3B1 was added
gene: AP3B1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Transplant Co-Morbidity Superpanel v0.0 ANO6 Bryony Thompson gene: ANO6 was added
gene: ANO6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ANO6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO6 were set to 21107324; 27879994; 11895776; 27634832
Phenotypes for gene: ANO6 were set to MONDO:0009885; Scott syndrome, MIM# 262890
Transplant Co-Morbidity Superpanel v0.0 ANO5 Bryony Thompson gene: ANO5 was added
gene: ANO5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO5 were set to 30712070; 29175271; 15124103; 30641283
Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia MIM#166260
Transplant Co-Morbidity Superpanel v0.0 ANKRD26 Bryony Thompson gene: ANKRD26 was added
gene: ANKRD26 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD26 were set to 21211618
Phenotypes for gene: ANKRD26 were set to Thrombocytopaenia 2, MIM# 188000
Transplant Co-Morbidity Superpanel v0.0 ALPL Bryony Thompson gene: ALPL was added
gene: ALPL was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to disorder of bone metabolism; Hypophosphatasia
Transplant Co-Morbidity Superpanel v0.0 ALPK3 Bryony Thompson gene: ALPK3 was added
gene: ALPK3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ALPK3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 27106955; 26846950; 32480058
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM#618052
Transplant Co-Morbidity Superpanel v0.0 ALMS1 Bryony Thompson gene: ALMS1 was added
gene: ALMS1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Transplant Co-Morbidity Superpanel v0.0 AKT2 Bryony Thompson gene: AKT2 was added
gene: AKT2 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 17327441; 15166380; 17576055
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes
Transplant Co-Morbidity Superpanel v0.0 ADAMTS13 Bryony Thompson gene: ADAMTS13 was added
gene: ADAMTS13 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS13 were set to 30312976; 11586351
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Transplant Co-Morbidity Superpanel v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 34012068
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Transplant Co-Morbidity Superpanel v0.0 ACTN1 Bryony Thompson gene: ACTN1 was added
gene: ACTN1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN1 were set to 23434115
Phenotypes for gene: ACTN1 were set to Bleeding disorder, platelet-type, 15, MIM# 615193
Transplant Co-Morbidity Superpanel v0.0 ACTC1 Bryony Thompson gene: ACTC1 was added
gene: ACTC1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 26432839; 20600154; 30384889; 14605248; 31430208; 9563954
Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Left ventricular noncompaction 4, MIM# 613424
Transplant Co-Morbidity Superpanel v0.0 ACTB Bryony Thompson gene: ACTB was added
gene: ACTB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 30315159
Phenotypes for gene: ACTB were set to Syndromic thrombocytopaenia
Transplant Co-Morbidity Superpanel v0.0 ACTA2 Bryony Thompson gene: ACTA2 was added
gene: ACTA2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic 6, MIM# 611788
Transplant Co-Morbidity Superpanel v0.0 ABCG8 Bryony Thompson gene: ABCG8 was added
gene: ABCG8 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG8 were set to 32546081; 23556150
Phenotypes for gene: ABCG8 were set to Sitosterolemia 1, MIM# 210250
Transplant Co-Morbidity Superpanel v0.0 ABCG5 Bryony Thompson gene: ABCG5 was added
gene: ABCG5 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolaemia 2, MIM# 618666
Transplant Co-Morbidity Superpanel v0.0 ABCC8 Bryony Thompson gene: ABCC8 was added
gene: ABCC8 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; DIABETES MELLITUS, NONINSULIN-DEPENDENT; transient neonatal diabetes (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal 2, 610374; Permanent Neonatal Diabetes Mellitus; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, noninsulin-dependent, 125853; Permanent neonatal diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Transplant Co-Morbidity Superpanel v0.0 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ABCA1 were set to 10431237; 10431236
Phenotypes for gene: ABCA1 were set to HDL deficiency, familial, 1, MIM# 604091; Tangier disease, MIM# 205400
Transplant Co-Morbidity Superpanel v0.0 Bryony Thompson Added panel Transplant Co-Morbidity Superpanel