Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Additional findings_Adult v0.166 | ACTA2 | Tommy Li edited their review of gene: ACTA2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.166 | ACTA2 | Tommy Li reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.166 | PTEN | Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM# 158350 to Cowden syndrome 1, MIM# 158350; PTEN hamartoma tumour syndrome (MONDO#0017623) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.165 | PTEN | Zornitza Stark Mode of inheritance for gene: PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.164 | PTEN | Chern Lim reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PTEN hamartoma tumour syndrome (MONDO#0017623); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.164 | Bryony Thompson Panel types changed to Melbourne Genomics; Australian Genomics; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.163 | WT1 | Bryony Thompson Marked gene: WT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.163 | WT1 | Bryony Thompson Gene: wt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.163 | WT1 | Bryony Thompson Classified gene: WT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.163 | WT1 | Bryony Thompson Gene: wt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.162 | WT1 |
Bryony Thompson gene: WT1 was added gene: WT1 was added to Additional findings_Adult. Sources: 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 gene: WT1 was marked as current diagnostic |
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Additional findings_Adult v0.161 | TTR | Bryony Thompson Marked gene: TTR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.161 | TTR | Bryony Thompson Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.161 | TTR | Bryony Thompson Classified gene: TTR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.161 | TTR | Bryony Thompson Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.160 | TTR |
Bryony Thompson gene: TTR was added gene: TTR was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 35802134 Phenotypes for gene: TTR were set to Hereditary transthyretin-related amyloidosis MIM#105210 gene: TTR was marked as current diagnostic |
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Additional findings_Adult v0.159 | TNNC1 | Bryony Thompson Marked gene: TNNC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.159 | TNNC1 | Bryony Thompson Gene: tnnc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.159 | TNNC1 | Bryony Thompson Classified gene: TNNC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.159 | TNNC1 | Bryony Thompson Gene: tnnc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.158 | TNNC1 |
Bryony Thompson gene: TNNC1 was added gene: TNNC1 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNC1 were set to 35802134 Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated, 1Z, MIM# 611879 gene: TNNC1 was marked as current diagnostic |
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Additional findings_Adult v0.157 | RBM20 | Bryony Thompson Marked gene: RBM20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.157 | RBM20 | Bryony Thompson Gene: rbm20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.157 | RBM20 | Bryony Thompson Classified gene: RBM20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.157 | RBM20 | Bryony Thompson Gene: rbm20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.156 | RBM20 |
Bryony Thompson gene: RBM20 was added gene: RBM20 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBM20 were set to 35802134 Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD MIM#613172 AD gene: RBM20 was marked as current diagnostic |
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Additional findings_Adult v0.155 | RB1 | Bryony Thompson Marked gene: RB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.155 | RB1 | Bryony Thompson Gene: rb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.155 | RB1 | Bryony Thompson Classified gene: RB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.155 | RB1 | Bryony Thompson Gene: rb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.154 | RB1 |
Bryony Thompson gene: RB1 was added gene: RB1 was added to Additional findings_Adult. Sources: 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 gene: RB1 was marked as current diagnostic |
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Additional findings_Adult v0.153 | DES | Bryony Thompson Marked gene: DES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.153 | DES | Bryony Thompson Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.153 | DES | Bryony Thompson Classified gene: DES as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.153 | DES | Bryony Thompson Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.152 | DES |
Bryony Thompson gene: DES was added gene: DES was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DES were set to 35802134 Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419 gene: DES was marked as current diagnostic |
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Additional findings_Adult v0.151 | BAG3 | Bryony Thompson Marked gene: BAG3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.151 | BAG3 | Bryony Thompson Gene: bag3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.151 | BAG3 | Bryony Thompson Classified gene: BAG3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.151 | BAG3 | Bryony Thompson Gene: bag3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.150 | BAG3 |
Bryony Thompson gene: BAG3 was added gene: BAG3 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAG3 were set to 35802134 Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH, MIM# 613881; Myopathy, myofibrillar, 6, MIM# 612954 |
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Additional findings_Adult v0.149 | APOB | Zornitza Stark Tag treatable tag was added to gene: APOB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.149 | APOB |
Zornitza Stark commented on gene: APOB: Well established gene-disease association. Considered 'strongly actionable' by ClinGen, however, benefit in children is uncertain. Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. Based on studies of individuals selected based on clinical criteria in the pre-statin era, untreated males are at 50% risk for a fatal or non-fatal coronary event by age 50 years, and women are at 30% risk by 60 years. Treatable disorder: Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment. Other treatments, as well as lifestyle modification are also available and alter the natural history. Statin therapy is recommended to be initiated as early as 8-12 years of age. Relatively common, 1 in 200/500. |
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Additional findings_Adult v0.148 | RPE65 | Zornitza Stark Marked gene: RPE65 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.148 | RPE65 | Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.148 | RPE65 | Zornitza Stark Classified gene: RPE65 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.148 | RPE65 | Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.147 | RPE65 |
Zornitza Stark gene: RPE65 was added gene: RPE65 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RPE65 were set to 34012068 Phenotypes for gene: RPE65 were set to RPE-related retinopathy Review for gene: RPE65 was set to GREEN Added comment: Included in ACMG V3.0 SF list, available gene therapy may be more effective earlier in disease. Sources: Expert list |
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Additional findings_Adult v0.146 | HNF1A | Zornitza Stark Marked gene: HNF1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.146 | HNF1A | Zornitza Stark Gene: hnf1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.146 | HNF1A | Zornitza Stark Classified gene: HNF1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.146 | HNF1A | Zornitza Stark Gene: hnf1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.145 | HNF1A |
Zornitza Stark gene: HNF1A was added gene: HNF1A was added to Additional findings_Adult. Sources: 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 Review for gene: HNF1A was set to GREEN Added comment: Included in ACMG V3.0 SF list, accounts for 30-50% of known MODY cases likely to respond to high dose sulfonylureas; early treatment may prevent complications. Sources: Expert list |
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Additional findings_Adult v0.144 | ENG | Zornitza Stark Marked gene: ENG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.144 | ENG | Zornitza Stark Gene: eng has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.144 | ENG | Zornitza Stark Classified gene: ENG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.144 | ENG | Zornitza Stark Gene: eng has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.143 | ENG |
Zornitza Stark gene: ENG was added gene: ENG was added to Additional findings_Adult. Sources: 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 Review for gene: ENG was set to GREEN Added comment: Included in ACMG V3.0 SF list, potential morbidity meets penetrance threshold and has effective intervention. Sources: Expert list |
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Additional findings_Adult v0.142 | ACVRL1 | Zornitza Stark Marked gene: ACVRL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.142 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.142 | ACVRL1 | Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.142 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.141 | ACVRL1 |
Zornitza Stark gene: ACVRL1 was added gene: ACVRL1 was added to Additional findings_Adult. Sources: 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 Review for gene: ACVRL1 was set to GREEN Added comment: Included in ACMG V3.0 SF list, potential morbidity meets penetrance threshold and has effective intervention. Sources: Expert list |
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Additional findings_Adult v0.140 | GAA | Zornitza Stark Marked gene: GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.140 | GAA | Zornitza Stark Gene: gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.140 | GAA | Zornitza Stark Classified gene: GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.140 | GAA | Zornitza Stark Gene: gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.139 | GAA |
Zornitza Stark gene: GAA was added gene: GAA was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 34012068 Phenotypes for gene: GAA were set to Glycogen storage disease II 232300; Pompe disease Review for gene: GAA was set to GREEN Added comment: Included in ACMG V3.0 SF list, presentation can be in adulthood, effective enzyme replacement therapy available. Sources: Expert list |
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Additional findings_Adult v0.138 | BTD | Zornitza Stark Marked gene: BTD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.138 | BTD | Zornitza Stark Gene: btd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.138 | BTD | Zornitza Stark Classified gene: BTD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.138 | BTD | Zornitza Stark Gene: btd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.137 | BTD |
Zornitza Stark gene: BTD was added gene: BTD was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 34012068 Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM# 253260 Review for gene: BTD was set to GREEN Added comment: Included in ACMG SF V3.0, clinical presentation can be in adulthood, features can be non-specific, highly effective treatment available. Sources: Expert list |
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Additional findings_Adult v0.136 | TTN | Zornitza Stark Marked gene: TTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.136 | TTN | Zornitza Stark Gene: ttn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.136 | TTN | Zornitza Stark Classified gene: TTN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.136 | TTN | Zornitza Stark Gene: ttn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.135 | TTN |
Zornitza Stark gene: TTN was added gene: TTN was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTN were set to 34012068 Phenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G, MIM# 604145 Review for gene: TTN was set to GREEN Added comment: Included in ACMG V3.0 SF list, risk fo sudden death with preventative interventions available. We note the difficulty in interpreting variants in this gene: truncating variants with previously established pathogenicity to be reported only. Sources: Expert list |
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Additional findings_Adult v0.134 | TRDN | Zornitza Stark Marked gene: TRDN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.134 | TRDN | Zornitza Stark Gene: trdn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.134 | TRDN | Zornitza Stark Classified gene: TRDN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.134 | TRDN | Zornitza Stark Gene: trdn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.133 | TRDN |
Zornitza Stark gene: TRDN was added gene: TRDN was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRDN were set to 34012068 Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441 Review for gene: TRDN was set to GREEN Added comment: Included in ACMG SF V3.0 list, risk of sudden death with preventative interventions available Sources: Expert list |
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Additional findings_Adult v0.132 | FLNC | Zornitza Stark Marked gene: FLNC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.132 | FLNC | Zornitza Stark Gene: flnc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.132 | FLNC | Zornitza Stark Classified gene: FLNC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.132 | FLNC | Zornitza Stark Gene: flnc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.131 | FLNC |
Zornitza Stark gene: FLNC was added gene: FLNC was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to 34012068 Phenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26, MIM# 617047 Review for gene: FLNC was set to GREEN Added comment: Included in ACMG SF V3.0, risk of sudden death with preventative interventions available. Sources: Expert list |
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Additional findings_Adult v0.129 | Zornitza Stark Panel types changed to Melbourne Genomics; Australian Genomics | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.128 | CASQ2 | Zornitza Stark Marked gene: CASQ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.128 | CASQ2 | Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.128 | CASQ2 | Zornitza Stark Classified gene: CASQ2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.128 | CASQ2 | Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.127 | CASQ2 |
Zornitza Stark gene: CASQ2 was added gene: CASQ2 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASQ2 were set to 34012068 Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 Review for gene: CASQ2 was set to GREEN Added comment: Included in ACMG SF V3.0 list as risk fo sudden death with preventative interventions available. Sources: Expert list |
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Additional findings_Adult v0.126 | TMEM127 | Zornitza Stark Marked gene: TMEM127 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.126 | TMEM127 | Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.126 | TMEM127 | Zornitza Stark Classified gene: TMEM127 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.126 | TMEM127 | Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.125 | TMEM127 |
Zornitza Stark gene: TMEM127 was added gene: TMEM127 was added to Additional findings_Adult. Sources: 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 Review for gene: TMEM127 was set to GREEN Added comment: Included in ACMG V3.0 SF list as penetrance met threshold to include with other PGL/PCC genes. Sources: Expert list |
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Additional findings_Adult v0.124 | PALB2 | Zornitza Stark Marked gene: PALB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.124 | PALB2 | Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.124 | PALB2 | Zornitza Stark Classified gene: PALB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.124 | PALB2 | Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.123 | PALB2 |
Zornitza Stark gene: PALB2 was added gene: PALB2 was added to Additional findings_Adult. Sources: 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 Review for gene: PALB2 was set to GREEN Added comment: Included in ACMG V3.0 as risk of breast cancer meets penetrance threshold. Sources: Expert list |
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Additional findings_Adult v0.122 | MAX | Zornitza Stark Marked gene: MAX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.122 | MAX | Zornitza Stark Gene: max has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.122 | MAX | Zornitza Stark Classified gene: MAX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.122 | MAX | Zornitza Stark Gene: max has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.121 | MAX |
Zornitza Stark gene: MAX was added gene: MAX was added to Additional findings_Adult. Sources: 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 Review for gene: MAX was set to GREEN Added comment: Recommended on ACMG V3.0 list as penetrance met threshold to include with other PGL/PCC genes. Sources: Expert list |
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Additional findings_Adult v0.119 | VHL | Zornitza Stark Marked gene: VHL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.119 | VHL | Zornitza Stark Gene: vhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.119 | VHL | Zornitza Stark Phenotypes for gene: VHL were changed from to von Hippel-Lindau syndrome , MIM#193300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.118 | VHL | Zornitza Stark Mode of inheritance for gene: VHL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.117 | VHL | Zornitza Stark reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome , MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.117 | TSC2 | Zornitza Stark Marked gene: TSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.117 | TSC2 | Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.117 | TSC2 | Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.116 | TSC2 | Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.115 | TSC2 | Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.115 | TSC1 | Zornitza Stark Marked gene: TSC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.115 | TSC1 | Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.115 | TSC1 | Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.114 | TSC1 | Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.113 | TSC1 | Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.113 | TPM1 | Zornitza Stark Marked gene: TPM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.113 | TPM1 | Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.113 | TPM1 | Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196; Left ventricular noncompaction 9, MIM# 611878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.112 | TPM1 | Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.111 | TPM1 | Zornitza Stark reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878, Cardiomyopathy, hypertrophic, 3, MIM# 115196, Left ventricular noncompaction 9, MIM# 611878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.111 | TP53 | Zornitza Stark Marked gene: TP53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.111 | TP53 | Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.111 | TP53 | Zornitza Stark Phenotypes for gene: TP53 were changed from to Li-Fraumeni syndrome, MIM# 151623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.110 | TP53 | Zornitza Stark Mode of inheritance for gene: TP53 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.109 | TP53 | Zornitza Stark reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Li-Fraumeni syndrome, MIM# 151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.109 | TNNT2 | Zornitza Stark Marked gene: TNNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.109 | TNNT2 | Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.109 | TNNT2 | Zornitza Stark Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Left ventricular noncompaction 6, MIM# 601494 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.108 | TNNT2 | Zornitza Stark Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.107 | TNNT2 | Zornitza Stark reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494, Cardiomyopathy, familial restrictive, 3, MIM# 612422, Cardiomyopathy, hypertrophic, 2, MIM# 115195, Left ventricular noncompaction 6, MIM# 601494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.107 | TNNI3 | Zornitza Stark Marked gene: TNNI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.107 | TNNI3 | Zornitza Stark Gene: tnni3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.107 | TNNI3 | Zornitza Stark Phenotypes for gene: TNNI3 were changed from to Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, familial restrictive, MIM#1 115210; Cardiomyopathy, hypertrophic, 7 , MIM#613690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.106 | TNNI3 | Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.105 | TNNI3 | Zornitza Stark reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1FF, MIM# 613286, Cardiomyopathy, familial restrictive, MIM#1 115210, Cardiomyopathy, hypertrophic, 7 , MIM#613690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.105 | TMEM43 | Zornitza Stark Marked gene: TMEM43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.105 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.105 | TMEM43 | Zornitza Stark Phenotypes for gene: TMEM43 were changed from to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.104 | TMEM43 | Zornitza Stark Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.103 | TMEM43 | Zornitza Stark reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.103 | TGFBR2 | Zornitza Stark Marked gene: TGFBR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.103 | TGFBR2 | Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.103 | TGFBR2 | Zornitza Stark Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.102 | TGFBR2 | Zornitza Stark Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.101 | TGFBR2 | Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.101 | TGFBR1 | Zornitza Stark Marked gene: TGFBR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.101 | TGFBR1 | Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.101 | TGFBR1 | Zornitza Stark Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.100 | TGFBR1 | Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.99 | TGFBR1 | Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.99 | STK11 | Zornitza Stark Marked gene: STK11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.99 | STK11 | Zornitza Stark Gene: stk11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.99 | STK11 | Zornitza Stark Phenotypes for gene: STK11 were changed from to Peutz-Jeghers syndrome, MIM# 175200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.98 | STK11 | Zornitza Stark Mode of inheritance for gene: STK11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.97 | STK11 | Zornitza Stark reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.97 | SMAD4 | Zornitza Stark Marked gene: SMAD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.97 | SMAD4 | Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.97 | SMAD4 | Zornitza Stark Phenotypes for gene: SMAD4 were changed from to vJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.96 | SMAD4 | Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.95 | SMAD4 | Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.95 | SMAD3 | Zornitza Stark Marked gene: SMAD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.95 | SMAD3 | Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.95 | SMAD3 | Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.94 | SMAD3 | Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.93 | SMAD3 | Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.93 | SDHD | Zornitza Stark Marked gene: SDHD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.93 | SDHD | Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.93 | SDHD | Zornitza Stark Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.92 | SDHD | Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.91 | SDHD | Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000, Pheochromocytoma, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.91 | SDHC | Zornitza Stark Marked gene: SDHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.91 | SDHC | Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.91 | SDHC | Zornitza Stark Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.90 | SDHC | Zornitza Stark Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.89 | SDHC | Zornitza Stark reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 3, MIM# 605373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.89 | SDHB | Zornitza Stark Marked gene: SDHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.89 | SDHB | Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.89 | SDHB | Zornitza Stark Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.88 | SDHB | Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.87 | SDHB | Zornitza Stark reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 4, MIM# 115310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.87 | SDHAF2 | Zornitza Stark Marked gene: SDHAF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.87 | SDHAF2 | Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.87 | SDHAF2 | Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.86 | SDHAF2 | Zornitza Stark Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.85 | SDHAF2 | Zornitza Stark reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.85 | SCN5A | Zornitza Stark Marked gene: SCN5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.85 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.85 | SCN5A | Zornitza Stark Phenotypes for gene: SCN5A were changed from to Atrial fibrillation, familial, 10, MIM# 614022; Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900; Heart block, progressive, type IA, MIM# 113900; Long QT syndrome 3, MIM# 603830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.84 | SCN5A | Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.83 | SCN5A | Zornitza Stark reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 10, MIM# 614022, Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900, Heart block, progressive, type IA, MIM# 113900, Long QT syndrome 3, MIM# 603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.83 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.83 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.83 | RYR2 | Zornitza Stark Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2 , MIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.82 | RYR2 | Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.81 | RYR2 | Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 , MIM#600996, Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.81 | RYR1 | Zornitza Stark Marked gene: RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.81 | RYR1 | Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.81 | RYR1 | Zornitza Stark Phenotypes for gene: RYR1 were changed from to {Malignant hyperthermia susceptibility 1}, MIM#145600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.80 | RYR1 | Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.79 | RYR1 | Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Malignant hyperthermia susceptibility 1}, MIM#145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.79 | RET | Zornitza Stark Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.79 | RET | Zornitza Stark Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.79 | RET | Zornitza Stark Phenotypes for gene: RET were changed from to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.78 | RET | Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.77 | RET | Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.77 | PTEN | Zornitza Stark Marked gene: PTEN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.77 | PTEN | Zornitza Stark Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.77 | PTEN | Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM# 158350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.76 | PTEN | Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.75 | PTEN | Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cowden syndrome 1, MIM# 158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.75 | PRKAG2 | Zornitza Stark Marked gene: PRKAG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.75 | PRKAG2 | Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.75 | PRKAG2 | Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.74 | PRKAG2 | Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.73 | PRKAG2 | Zornitza Stark reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.73 | PMS2 | Zornitza Stark Marked gene: PMS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.73 | PMS2 | Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.73 | PMS2 | Zornitza Stark Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.72 | PMS2 | Zornitza Stark Mode of inheritance for gene: PMS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.71 | PMS2 | Zornitza Stark reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.71 | PKP2 | Zornitza Stark Marked gene: PKP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.71 | PKP2 | Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.71 | PKP2 | Zornitza Stark Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.70 | PKP2 | Zornitza Stark Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.69 | PKP2 | Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.69 | PCSK9 | Zornitza Stark Marked gene: PCSK9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.69 | PCSK9 | Zornitza Stark Gene: pcsk9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.69 | PCSK9 | Zornitza Stark Phenotypes for gene: PCSK9 were changed from to Hypercholesterolemia, familial, 3, MIM# 603776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.68 | PCSK9 | Zornitza Stark Mode of inheritance for gene: PCSK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.67 | PCSK9 | Zornitza Stark reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 3, MIM# 603776; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.67 | OTC | Zornitza Stark Marked gene: OTC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.67 | OTC | Zornitza Stark Gene: otc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.67 | OTC | Zornitza Stark Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency, MIM# 311250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.66 | OTC | Zornitza Stark Mode of inheritance for gene: OTC was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.65 | OTC | Zornitza Stark reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.65 | NF2 | Zornitza Stark Marked gene: NF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.65 | NF2 | Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.65 | NF2 | Zornitza Stark Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2, MIM# 101000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.64 | NF2 | Zornitza Stark Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.63 | NF2 | Zornitza Stark reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2, MIM# 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.63 | MYL3 | Zornitza Stark Marked gene: MYL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.63 | MYL3 | Zornitza Stark Gene: myl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.63 | MYL3 | Zornitza Stark Phenotypes for gene: MYL3 were changed from to Cardiomyopathy, hypertrophic, 8, MIM# 608751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.62 | MYL3 | Zornitza Stark Mode of inheritance for gene: MYL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.61 | MYL3 | Zornitza Stark reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.61 | MYL2 | Zornitza Stark Marked gene: MYL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.61 | MYL2 | Zornitza Stark Gene: myl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.61 | MYL2 | Zornitza Stark Phenotypes for gene: MYL2 were changed from to Cardiomyopathy, hypertrophic, 10, MIM# 608758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.60 | MYL2 | Zornitza Stark Mode of inheritance for gene: MYL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.59 | MYL2 | Zornitza Stark reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 10, MIM# 608758; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.59 | MYH7 | Zornitza Stark Marked gene: MYH7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.59 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.59 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; Cardiomyopathy, hypertrophic, 1, MIM# 192600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.58 | MYH7 | Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.57 | MYH7 | Zornitza Stark reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, Cardiomyopathy, hypertrophic, 1, MIM# 192600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.57 | MYH11 | Zornitza Stark Marked gene: MYH11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.57 | MYH11 | Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.57 | MYH11 | Zornitza Stark Phenotypes for gene: MYH11 were changed from to Aortic aneurysm, familial thoracic 4, MIM# 132900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.56 | MYH11 | Zornitza Stark Mode of inheritance for gene: MYH11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.55 | MYH11 | Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.55 | MYBPC3 | Zornitza Stark Marked gene: MYBPC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.55 | MYBPC3 | Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.55 | MYBPC3 | Zornitza Stark Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197; Left ventricular noncompaction 10, MIM# 615396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.54 | MYBPC3 | Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.53 | MYBPC3 | Zornitza Stark reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM# 615396, Cardiomyopathy, hypertrophic, 4, MIM# 115197, Left ventricular noncompaction 10, MIM# 615396; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.53 | MUTYH | Zornitza Stark Marked gene: MUTYH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.53 | MUTYH | Zornitza Stark Gene: mutyh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.53 | MUTYH | Zornitza Stark Phenotypes for gene: MUTYH were changed from to Adenomas, multiple colorectal, MIM# 608456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.52 | MUTYH | Zornitza Stark Mode of inheritance for gene: MUTYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.51 | MUTYH | Zornitza Stark reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomas, multiple colorectal, MIM# 608456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.51 | MSH6 | Zornitza Stark Marked gene: MSH6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.51 | MSH6 | Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.51 | MSH6 | Zornitza Stark Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.50 | MSH6 | Zornitza Stark Mode of inheritance for gene: MSH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.49 | MSH6 | Zornitza Stark reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.49 | MSH2 | Zornitza Stark Marked gene: MSH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.49 | MSH2 | Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.49 | MSH2 | Zornitza Stark Phenotypes for gene: MSH2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.48 | MSH2 | Zornitza Stark Mode of inheritance for gene: MSH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.47 | MSH2 | Zornitza Stark reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.47 | MLH1 | Zornitza Stark Marked gene: MLH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.47 | MLH1 | Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.47 | MLH1 | Zornitza Stark Phenotypes for gene: MLH1 were changed from to Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.46 | MLH1 | Zornitza Stark Mode of inheritance for gene: MLH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.45 | MLH1 | Zornitza Stark reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.45 | MEN1 | Zornitza Stark Marked gene: MEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.45 | MEN1 | Zornitza Stark Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.45 | MEN1 | Zornitza Stark Phenotypes for gene: MEN1 were changed from to Multiple endocrine neoplasia 1, MIM# 131100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.44 | MEN1 | Zornitza Stark Mode of inheritance for gene: MEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.43 | MEN1 | Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM# 131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.43 | LMNA | Zornitza Stark Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.43 | LMNA | Zornitza Stark Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.43 | LMNA | Zornitza Stark Phenotypes for gene: LMNA were changed from to Cardiomyopathy, dilated, 1A, MIM# 115200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.42 | LMNA | Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.41 | LMNA | Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.41 | LDLR | Zornitza Stark Marked gene: LDLR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.41 | LDLR | Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.41 | LDLR | Zornitza Stark Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1, MIM# 143890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.40 | LDLR | Zornitza Stark Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.39 | LDLR | Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 1, MIM# 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.39 | KCNQ1 | Zornitza Stark Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.39 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.39 | KCNQ1 | Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Long QT syndrome 1, MIM# 192500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.38 | KCNQ1 | Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.37 | KCNQ1 | Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.37 | KCNH2 | Zornitza Stark Marked gene: KCNH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.37 | KCNH2 | Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.37 | KCNH2 | Zornitza Stark Phenotypes for gene: KCNH2 were changed from to Long QT syndrome 2, MIM# 613688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.36 | KCNH2 | Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.35 | KCNH2 | Zornitza Stark reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 2, MIM# 613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.35 | HFE | Zornitza Stark Marked gene: HFE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.35 | HFE | Zornitza Stark Gene: hfe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.35 | HFE | Zornitza Stark Phenotypes for gene: HFE were changed from to Haemochromatosis, MIM# 235200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.34 | HFE | Zornitza Stark Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.33 | HFE | Zornitza Stark reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.33 | GLA | Zornitza Stark Marked gene: GLA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.33 | GLA | Zornitza Stark Gene: gla has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.33 | GLA | Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.32 | GLA | Zornitza Stark Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.31 | GLA | Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.31 | FBN1 | Zornitza Stark Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.31 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.31 | FBN1 | Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.30 | FBN1 | Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.29 | FBN1 | Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.29 | DSP | Zornitza Stark Marked gene: DSP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.29 | DSP | Zornitza Stark Gene: dsp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.29 | DSP | Zornitza Stark Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.28 | DSP | Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.27 | DSP | Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.27 | DSG2 | Zornitza Stark Marked gene: DSG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.27 | DSG2 | Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.27 | DSG2 | Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.26 | DSG2 | Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.25 | DSG2 | Zornitza Stark reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.25 | DSC2 | Zornitza Stark Marked gene: DSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.25 | DSC2 | Zornitza Stark Gene: dsc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.25 | DSC2 | Zornitza Stark Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.24 | DSC2 | Zornitza Stark Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.23 | DSC2 | Zornitza Stark reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.23 | COL3A1 | Zornitza Stark Marked gene: COL3A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.23 | COL3A1 | Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.23 | COL3A1 | Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.22 | COL3A1 | Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.21 | COL3A1 | Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.21 | CACNA1S | Zornitza Stark Marked gene: CACNA1S as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.21 | CACNA1S | Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.21 | CACNA1S | Zornitza Stark Phenotypes for gene: CACNA1S were changed from to Malignant hyperthermia susceptibility 5, MIM# 601887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.20 | CACNA1S | Zornitza Stark Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.19 | CACNA1S | Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malignant hyperthermia susceptibility 5, MIM# 601887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.19 | BRCA2 | Zornitza Stark Marked gene: BRCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.19 | BRCA2 | Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.19 | BRCA2 | Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Breast-ovarian cancer, familial, 2, MIM#612555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.18 | BRCA2 | Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.17 | BRCA2 | Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 2, MIM#612555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.17 | BRCA1 | Zornitza Stark Marked gene: BRCA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.17 | BRCA1 | Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.17 | BRCA1 | Zornitza Stark Phenotypes for gene: BRCA1 were changed from to Breast-ovarian cancer, familial, 1, MIM# 604370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.16 | BRCA1 | Zornitza Stark Mode of inheritance for gene: BRCA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.15 | BRCA1 | Zornitza Stark reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 1, MIM# 604370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.15 | BMPR1A | Zornitza Stark Marked gene: BMPR1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.15 | BMPR1A | Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.15 | BMPR1A | Zornitza Stark Phenotypes for gene: BMPR1A were changed from to Polyposis, juvenile intestinal, MIM# 174900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.14 | BMPR1A | Zornitza Stark Mode of inheritance for gene: BMPR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.13 | BMPR1A | Zornitza Stark reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.13 | ATP7B | Zornitza Stark Marked gene: ATP7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.13 | ATP7B | Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.13 | ATP7B | Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.12 | ATP7B | Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.11 | ATP7B | Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.11 | APOB | Zornitza Stark Marked gene: APOB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.11 | APOB | Zornitza Stark Gene: apob has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.11 | APOB | Zornitza Stark Phenotypes for gene: APOB were changed from to Hypercholesterolemia, familial, 2, MIM# 144010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.10 | APOB | Zornitza Stark Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.9 | APOB | Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 2, MIM# 144010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.9 | APC | Zornitza Stark Marked gene: APC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.9 | APC | Zornitza Stark Gene: apc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.9 | APC | Zornitza Stark Phenotypes for gene: APC were changed from to Adenomatous polyposis coli, MIM# 175100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.8 | APC | Zornitza Stark Mode of inheritance for gene: APC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.7 | APC | Zornitza Stark reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.7 | ACTC1 | Zornitza Stark Marked gene: ACTC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.7 | ACTC1 | Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.7 | ACTC1 | Zornitza Stark Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Left ventricular noncompaction 4, MIM# 613424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.6 | ACTC1 | Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.5 | ACTC1 | Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424, Cardiomyopathy, hypertrophic, 11, MIM# 612098, Left ventricular noncompaction 4, MIM# 613424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.5 | ACTA2 | Zornitza Stark Marked gene: ACTA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.5 | ACTA2 | Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.5 | ACTA2 | Zornitza Stark Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.4 | ACTA2 | Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.3 | ACTA2 | Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.2 |
Zornitza Stark Panel name changed from Additional findings_Adult_MelbGenomics to Additional findings_Adult Panel types changed to Melbourne Genomics |
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Additional findings_Adult v0.1 | Zornitza Stark Panel name changed from Adult additional findings_MelbGenomics to Additional findings_Adult_MelbGenomics | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.0 | VHL |
Zornitza Stark gene: VHL was added gene: VHL was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: VHL was set to Unknown |
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Additional findings_Adult v0.0 | TSC2 |
Zornitza Stark gene: TSC2 was added gene: TSC2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TSC2 was set to Unknown |
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Additional findings_Adult v0.0 | TSC1 |
Zornitza Stark gene: TSC1 was added gene: TSC1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TSC1 was set to Unknown |
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Additional findings_Adult v0.0 | TPM1 |
Zornitza Stark gene: TPM1 was added gene: TPM1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TPM1 was set to Unknown |
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Additional findings_Adult v0.0 | TP53 |
Zornitza Stark gene: TP53 was added gene: TP53 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TP53 was set to Unknown |
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Additional findings_Adult v0.0 | TNNT2 |
Zornitza Stark gene: TNNT2 was added gene: TNNT2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TNNT2 was set to Unknown |
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Additional findings_Adult v0.0 | TNNI3 |
Zornitza Stark gene: TNNI3 was added gene: TNNI3 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TNNI3 was set to Unknown |
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Additional findings_Adult v0.0 | TMEM43 |
Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TMEM43 was set to Unknown |
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Additional findings_Adult v0.0 | TGFBR2 |
Zornitza Stark gene: TGFBR2 was added gene: TGFBR2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TGFBR2 was set to Unknown |
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Additional findings_Adult v0.0 | TGFBR1 |
Zornitza Stark gene: TGFBR1 was added gene: TGFBR1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TGFBR1 was set to Unknown |
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Additional findings_Adult v0.0 | STK11 |
Zornitza Stark gene: STK11 was added gene: STK11 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: STK11 was set to Unknown |
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Additional findings_Adult v0.0 | SMAD4 |
Zornitza Stark gene: SMAD4 was added gene: SMAD4 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: SMAD4 was set to Unknown |
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Additional findings_Adult v0.0 | SMAD3 |
Zornitza Stark gene: SMAD3 was added gene: SMAD3 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: SMAD3 was set to Unknown |
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Additional findings_Adult v0.0 | SDHD |
Zornitza Stark gene: SDHD was added gene: SDHD was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: SDHD was set to Unknown |
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Additional findings_Adult v0.0 | SDHC |
Zornitza Stark gene: SDHC was added gene: SDHC was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: SDHC was set to Unknown |
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Additional findings_Adult v0.0 | SDHB |
Zornitza Stark gene: SDHB was added gene: SDHB was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: SDHB was set to Unknown |
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Additional findings_Adult v0.0 | SDHAF2 |
Zornitza Stark gene: SDHAF2 was added gene: SDHAF2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: SDHAF2 was set to Unknown |
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Additional findings_Adult v0.0 | SCN5A |
Zornitza Stark gene: SCN5A was added gene: SCN5A was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: SCN5A was set to Unknown |
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Additional findings_Adult v0.0 | RYR2 |
Zornitza Stark gene: RYR2 was added gene: RYR2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: RYR2 was set to Unknown |
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Additional findings_Adult v0.0 | RYR1 |
Zornitza Stark gene: RYR1 was added gene: RYR1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: RYR1 was set to Unknown |
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Additional findings_Adult v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: RET was set to Unknown |
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Additional findings_Adult v0.0 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: PTEN was set to Unknown |
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Additional findings_Adult v0.0 | PRKAG2 |
Zornitza Stark gene: PRKAG2 was added gene: PRKAG2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: PRKAG2 was set to Unknown |
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Additional findings_Adult v0.0 | PMS2 |
Zornitza Stark gene: PMS2 was added gene: PMS2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: PMS2 was set to Unknown |
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Additional findings_Adult v0.0 | PKP2 |
Zornitza Stark gene: PKP2 was added gene: PKP2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: PKP2 was set to Unknown |
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Additional findings_Adult v0.0 | PCSK9 |
Zornitza Stark gene: PCSK9 was added gene: PCSK9 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: PCSK9 was set to Unknown |
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Additional findings_Adult v0.0 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: OTC was set to Unknown |
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Additional findings_Adult v0.0 | NF2 |
Zornitza Stark gene: NF2 was added gene: NF2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: NF2 was set to Unknown |
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Additional findings_Adult v0.0 | MYL3 |
Zornitza Stark gene: MYL3 was added gene: MYL3 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MYL3 was set to Unknown |
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Additional findings_Adult v0.0 | MYL2 |
Zornitza Stark gene: MYL2 was added gene: MYL2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MYL2 was set to Unknown |
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Additional findings_Adult v0.0 | MYH7 |
Zornitza Stark gene: MYH7 was added gene: MYH7 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MYH7 was set to Unknown |
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Additional findings_Adult v0.0 | MYH11 |
Zornitza Stark gene: MYH11 was added gene: MYH11 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MYH11 was set to Unknown |
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Additional findings_Adult v0.0 | MYBPC3 |
Zornitza Stark gene: MYBPC3 was added gene: MYBPC3 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MYBPC3 was set to Unknown |
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Additional findings_Adult v0.0 | MUTYH |
Zornitza Stark gene: MUTYH was added gene: MUTYH was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MUTYH was set to Unknown |
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Additional findings_Adult v0.0 | MSH6 |
Zornitza Stark gene: MSH6 was added gene: MSH6 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MSH6 was set to Unknown |
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Additional findings_Adult v0.0 | MSH2 |
Zornitza Stark gene: MSH2 was added gene: MSH2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MSH2 was set to Unknown |
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Additional findings_Adult v0.0 | MLH1 |
Zornitza Stark gene: MLH1 was added gene: MLH1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MLH1 was set to Unknown |
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Additional findings_Adult v0.0 | MEN1 |
Zornitza Stark gene: MEN1 was added gene: MEN1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MEN1 was set to Unknown |
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Additional findings_Adult v0.0 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: LMNA was set to Unknown |
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Additional findings_Adult v0.0 | LDLR |
Zornitza Stark gene: LDLR was added gene: LDLR was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: LDLR was set to Unknown |
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Additional findings_Adult v0.0 | KCNQ1 |
Zornitza Stark gene: KCNQ1 was added gene: KCNQ1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: KCNQ1 was set to Unknown |
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Additional findings_Adult v0.0 | KCNH2 |
Zornitza Stark gene: KCNH2 was added gene: KCNH2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: KCNH2 was set to Unknown |
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Additional findings_Adult v0.0 | HFE |
Zornitza Stark gene: HFE was added gene: HFE was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: HFE was set to Unknown |
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Additional findings_Adult v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: GLA was set to Unknown |
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Additional findings_Adult v0.0 | FBN1 |
Zornitza Stark gene: FBN1 was added gene: FBN1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: FBN1 was set to Unknown |
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Additional findings_Adult v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: DSP was set to Unknown |
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Additional findings_Adult v0.0 | DSG2 |
Zornitza Stark gene: DSG2 was added gene: DSG2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: DSG2 was set to Unknown |
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Additional findings_Adult v0.0 | DSC2 |
Zornitza Stark gene: DSC2 was added gene: DSC2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: DSC2 was set to Unknown |
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Additional findings_Adult v0.0 | COL3A1 |
Zornitza Stark gene: COL3A1 was added gene: COL3A1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: COL3A1 was set to Unknown |
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Additional findings_Adult v0.0 | CACNA1S |
Zornitza Stark gene: CACNA1S was added gene: CACNA1S was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: CACNA1S was set to Unknown |
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Additional findings_Adult v0.0 | BRCA2 |
Zornitza Stark gene: BRCA2 was added gene: BRCA2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: BRCA2 was set to Unknown |
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Additional findings_Adult v0.0 | BRCA1 |
Zornitza Stark gene: BRCA1 was added gene: BRCA1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: BRCA1 was set to Unknown |
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Additional findings_Adult v0.0 | BMPR1A |
Zornitza Stark gene: BMPR1A was added gene: BMPR1A was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: BMPR1A was set to Unknown |
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Additional findings_Adult v0.0 | ATP7B |
Zornitza Stark gene: ATP7B was added gene: ATP7B was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: ATP7B was set to Unknown |
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Additional findings_Adult v0.0 | APOB |
Zornitza Stark gene: APOB was added gene: APOB was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: APOB was set to Unknown |
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Additional findings_Adult v0.0 | APC |
Zornitza Stark gene: APC was added gene: APC was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: APC was set to Unknown |
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Additional findings_Adult v0.0 | ACTC1 |
Zornitza Stark gene: ACTC1 was added gene: ACTC1 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: ACTC1 was set to Unknown |
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Additional findings_Adult v0.0 | ACTA2 |
Zornitza Stark gene: ACTA2 was added gene: ACTA2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: ACTA2 was set to Unknown |
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Additional findings_Adult v0.0 | Zornitza Stark Added panel Adult additional findings_MelbGenomics |