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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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Additional findings_Adult v0.0 Zornitza Stark Added panel Adult additional findings_MelbGenomics