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Additional findings_Adult v1.129 Bryony Thompson Panel status changed from internal to public
Additional findings_Adult v1.127 MEFV Zornitza Stark Marked gene: MEFV as ready
Additional findings_Adult v1.127 MEFV Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
Additional findings_Adult v1.127 MEFV Zornitza Stark Classified gene: MEFV as Green List (high evidence)
Additional findings_Adult v1.127 MEFV Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
Additional findings_Adult v1.126 MEFV Zornitza Stark gene: MEFV was added
gene: MEFV was added to Additional findings_Adult. Sources: Expert Review
Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MEFV were set to Familial Mediterranean fever MIM#134610; Familial Mediterranean fever MIM#249100
Review for gene: MEFV was set to GREEN
Added comment: Diagnosis can be delayed. Treatment with colchicine. Inheritance is generally recessive but a defined list of variants have been shown to cause dominant disease (list available).
Sources: Expert Review
Additional findings_Adult v1.125 FLCN Zornitza Stark Marked gene: FLCN as ready
Additional findings_Adult v1.125 FLCN Zornitza Stark Gene: flcn has been classified as Green List (High Evidence).
Additional findings_Adult v1.125 JUP Zornitza Stark Marked gene: JUP as ready
Additional findings_Adult v1.125 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Additional findings_Adult v1.125 JUP Zornitza Stark Classified gene: JUP as Green List (high evidence)
Additional findings_Adult v1.125 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Additional findings_Adult v1.124 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214
Review for gene: JUP was set to GREEN
Added comment: MODERATE actionability by ClinGen.

Cardiology assessment to guide decisions about medical/surgical intervention.
Sources: Expert list
Additional findings_Adult v1.123 TECRL Zornitza Stark Marked gene: TECRL as ready
Additional findings_Adult v1.123 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Additional findings_Adult v1.123 TECRL Zornitza Stark Classified gene: TECRL as Green List (high evidence)
Additional findings_Adult v1.123 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Additional findings_Adult v1.122 TECRL Zornitza Stark gene: TECRL was added
gene: TECRL was added to Additional findings_Adult. Sources: Expert Review
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Review for gene: TECRL was set to GREEN
Added comment: STRONG actionability by ClinGen in adults.

Cardiology surveillance with consideration of medical and surgical treatment (beta blockers and ICD).
Sources: Expert Review
Additional findings_Adult v1.121 CALM3 Zornitza Stark Marked gene: CALM3 as ready
Additional findings_Adult v1.121 CALM3 Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence).
Additional findings_Adult v1.121 CALM3 Zornitza Stark Classified gene: CALM3 as Green List (high evidence)
Additional findings_Adult v1.121 CALM3 Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence).
Additional findings_Adult v1.120 CALM3 Zornitza Stark gene: CALM3 was added
gene: CALM3 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM3 were set to Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782; Long QT syndrome 16, MIM# 618782
Review for gene: CALM3 was set to GREEN
Added comment: MODERATE actionability in adults by ClinGen.

Cardiology surveillance and consideration of medical and surgical treatment (beta blockers and ICD for CPVT).
Sources: Expert list
Additional findings_Adult v1.119 CALM2 Zornitza Stark Marked gene: CALM2 as ready
Additional findings_Adult v1.119 CALM2 Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.119 CALM2 Zornitza Stark Classified gene: CALM2 as Green List (high evidence)
Additional findings_Adult v1.119 CALM2 Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.118 CALM2 Zornitza Stark gene: CALM2 was added
gene: CALM2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM2 were set to Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990; Long QT syndrome 15 616249
Review for gene: CALM2 was set to GREEN
Added comment: MODERATE actionability by ClinGen.

Cardiac surveillance with consideration for medical and surgical treatment (beta blockers, ICD for CPVT).
Sources: Expert list
Additional findings_Adult v1.117 CALM1 Zornitza Stark changed review comment from: MODERATE actionability by ClinGen in adults.

Cardiac surveillance recommended with consideration for medical and if required, surgical intervention (beta-blockers, ICD).
Sources: Expert list; to: MODERATE actionability by ClinGen in adults.

Cardiac surveillance recommended with consideration for medical and if required, surgical intervention (beta-blockers, ICD for CPVT).
Sources: Expert list
Additional findings_Adult v1.117 CALM1 Zornitza Stark Marked gene: CALM1 as ready
Additional findings_Adult v1.117 CALM1 Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.117 CALM1 Zornitza Stark Classified gene: CALM1 as Green List (high evidence)
Additional findings_Adult v1.117 CALM1 Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.116 CALM1 Zornitza Stark gene: CALM1 was added
gene: CALM1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM1 were set to Ventricular tachycardia, catecholaminergic polymorphic, 4 614916; Long QT syndrome 14, MIM# 616247
Review for gene: CALM1 was set to GREEN
Added comment: MODERATE actionability by ClinGen in adults.

Cardiac surveillance recommended with consideration for medical and if required, surgical intervention (beta-blockers, ICD).
Sources: Expert list
Additional findings_Adult v1.115 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Additional findings_Adult v1.115 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Additional findings_Adult v1.115 PRKAR1A Zornitza Stark Classified gene: PRKAR1A as Green List (high evidence)
Additional findings_Adult v1.115 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Additional findings_Adult v1.114 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Carney complex, type 1, MIM# 160980
Review for gene: PRKAR1A was set to GREEN
Added comment: MODERATE actionability by ClinGen in adults.

Risk of sudden death due to cardiac myxomas -- surveillance warranted to facilitate timely excision. Surveillance for testicular tumors, acromegaly, and thyroid lesions is also recommended.
Sources: Expert list
Additional findings_Adult v1.113 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Additional findings_Adult v1.113 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Additional findings_Adult v1.113 SLX4 Zornitza Stark Classified gene: SLX4 as Green List (high evidence)
Additional findings_Adult v1.113 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Additional findings_Adult v1.112 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Additional findings_Adult. Sources: Expert Review
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi anaemia, complementation group P, MIM# 613951
Review for gene: SLX4 was set to GREEN
Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, SLX4 included for completeness.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert Review
Additional findings_Adult v1.111 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Additional findings_Adult v1.111 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Additional findings_Adult v1.111 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from Fanconi anemia, complementation group O, MIM# 613390 to Fanconi anaemia, complementation group O, MIM# 613390
Additional findings_Adult v1.110 RAD51C Zornitza Stark Classified gene: RAD51C as Green List (high evidence)
Additional findings_Adult v1.110 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Additional findings_Adult v1.109 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to Additional findings_Adult. Sources: Expert Review
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD51C were set to Fanconi anemia, complementation group O, MIM# 613390
Review for gene: RAD51C was set to GREEN
Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, RAD51C included for completeness.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert Review
Additional findings_Adult v1.108 FANCL Zornitza Stark Marked gene: FANCL as ready
Additional findings_Adult v1.108 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Additional findings_Adult v1.108 FANCL Zornitza Stark Classified gene: FANCL as Green List (high evidence)
Additional findings_Adult v1.108 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Additional findings_Adult v1.107 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Additional findings_Adult. Sources: Expert Review
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anaemia, complementation group L, MIM# 614083
Review for gene: FANCL was set to GREEN
Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCL included for completeness.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert Review
Additional findings_Adult v1.106 FANCI Zornitza Stark Marked gene: FANCI as ready
Additional findings_Adult v1.106 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Additional findings_Adult v1.106 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from Fanconi anemia, complementation group I, MIM# 609053 to Fanconi anaemia, complementation group I, MIM# 609053
Additional findings_Adult v1.105 FANCI Zornitza Stark Classified gene: FANCI as Green List (high evidence)
Additional findings_Adult v1.105 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Additional findings_Adult v1.104 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Additional findings_Adult. Sources: Expert Review
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, MIM# 609053
Review for gene: FANCI was set to GREEN
Added comment: Other FA genes assessed as MODERATE actionability by ClinGen; FANCI included for completeness.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert Review
Additional findings_Adult v1.103 FANCF Zornitza Stark Marked gene: FANCF as ready
Additional findings_Adult v1.103 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Additional findings_Adult v1.103 FANCF Zornitza Stark Classified gene: FANCF as Green List (high evidence)
Additional findings_Adult v1.103 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Additional findings_Adult v1.102 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Additional findings_Adult. Sources: Expert Review
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anaemia, complementation group F 603467
Review for gene: FANCF was set to GREEN
Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCF included for completeness.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by a haematologist is warranted to optimise timing of BMT.
Sources: Expert Review
Additional findings_Adult v1.101 FANCE Zornitza Stark Marked gene: FANCE as ready
Additional findings_Adult v1.101 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Additional findings_Adult v1.101 FANCE Zornitza Stark Classified gene: FANCE as Green List (high evidence)
Additional findings_Adult v1.101 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Additional findings_Adult v1.100 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Additional findings_Adult. Sources: Expert Review
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anaemia, complementation group E, MIM# 600901
Review for gene: FANCE was set to GREEN
Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCE included for completeness.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by a haematologist is warranted to optimise timing of BMT.
Sources: Expert Review
Additional findings_Adult v1.99 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Additional findings_Adult v1.99 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.99 FANCD2 Zornitza Stark Classified gene: FANCD2 as Green List (high evidence)
Additional findings_Adult v1.99 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.98 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anaemia, complementation group D2, MIM# 227646
Review for gene: FANCD2 was set to GREEN
Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCD2 included for completeness.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by a haematologist is warranted to optimise timing of BMT.
Sources: Expert list
Additional findings_Adult v1.97 FANCB Zornitza Stark Marked gene: FANCB as ready
Additional findings_Adult v1.97 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Additional findings_Adult v1.97 FANCB Zornitza Stark Classified gene: FANCB as Green List (high evidence)
Additional findings_Adult v1.97 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Additional findings_Adult v1.96 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Additional findings_Adult. Sources: Expert Review
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anaemia, complementation group B, MIM# 300514
Review for gene: FANCB was set to GREEN
Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCB included for completeness.

In the absence of congenital anomalies, FA can present with BMF and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert Review
Additional findings_Adult v1.95 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Additional findings_Adult v1.95 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Additional findings_Adult v1.95 ERCC4 Zornitza Stark Classified gene: ERCC4 as Green List (high evidence)
Additional findings_Adult v1.95 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Additional findings_Adult v1.94 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Fanconi anaemia, complementation group Q, MIM# 615272
Review for gene: ERCC4 was set to GREEN
Added comment: Other FA genes assessed as MODERATE actionability by ClinGen, ERCC4 included for completeness.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert list
Additional findings_Adult v1.93 BRCA1 Zornitza Stark Phenotypes for gene: BRCA1 were changed from Breast-ovarian cancer, familial, 1, MIM# 604370 to Breast-ovarian cancer, familial, 1, MIM# 604370; Fanconi anaemia, complementation group S, MIM# 617883
Additional findings_Adult v1.92 BRCA1 Zornitza Stark Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v1.91 BRCA1 Zornitza Stark edited their review of gene: BRCA1: Added comment: Association between biallelic variants and FA: other FA genes assessed as MODERATE actionability by ClinGen. BRCA1 included for completeness.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by a haematologist is warranted to optimise timing of BMT.; Changed phenotypes: Breast-ovarian cancer, familial, 1, MIM# 604370, Fanconi anaemia, complementation group S, MIM# 617883; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v1.91 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from {Breast cancer, susceptibility to} 114480 to {Breast cancer, susceptibility to} 114480; Fanconi anaemia, complementation group N, MIM# 610832
Additional findings_Adult v1.90 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v1.89 PALB2 Zornitza Stark edited their review of gene: PALB2: Added comment: Association between biallelic variants and FA: MODERATE actionability by ClinGen.

In the absence of congenital anomalies, presentation can be in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.; Changed phenotypes: {Breast cancer, susceptibility to} 114480, Fanconi anaemia, complementation group N, MIM# 610832; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v1.89 FANCC Zornitza Stark Marked gene: FANCC as ready
Additional findings_Adult v1.89 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Additional findings_Adult v1.89 FANCC Zornitza Stark Classified gene: FANCC as Green List (high evidence)
Additional findings_Adult v1.89 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Additional findings_Adult v1.88 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, MIM# 227645
Review for gene: FANCC was set to GREEN
Added comment: MODERATE actionability by ClinGen.

In the absence of congenital anomalies, presentation can be with BMF in adulthood and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert list
Additional findings_Adult v1.87 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Additional findings_Adult v1.87 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.87 BRIP1 Zornitza Stark Classified gene: BRIP1 as Green List (high evidence)
Additional findings_Adult v1.87 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.86 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM# 609054
Review for gene: BRIP1 was set to GREEN
Added comment: MODERATE actionability by ClinGen.

In the absence of congenital anomalies, presentation can be in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert list
Additional findings_Adult v1.85 FANCG Zornitza Stark Marked gene: FANCG as ready
Additional findings_Adult v1.85 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Additional findings_Adult v1.85 FANCG Zornitza Stark Classified gene: FANCG as Green List (high evidence)
Additional findings_Adult v1.85 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Additional findings_Adult v1.84 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anaemia, complementation group G, MIM# 614082
Review for gene: FANCG was set to GREEN
Added comment: MODERATE actionability by ClinGen.

In the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert list
Additional findings_Adult v1.83 FANCA Zornitza Stark Marked gene: FANCA as ready
Additional findings_Adult v1.83 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Additional findings_Adult v1.83 FANCA Zornitza Stark Classified gene: FANCA as Green List (high evidence)
Additional findings_Adult v1.83 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Additional findings_Adult v1.82 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anaemia, complementation group A, MIM# 227650
Review for gene: FANCA was set to GREEN
Added comment: MODERATE actionability by ClinGen.

In the absence of congenital anomalies, presentation can be with BMF in adulthood and surveillance by haematologist is warranted to optimise timing of BMT.
Sources: Expert list
Additional findings_Adult v1.81 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from Breast-ovarian cancer, familial, 2, MIM#612555 to Breast-ovarian cancer, familial, 2, MIM#612555; Fanconi anaemia, complementation group D1, MIM# 605724
Additional findings_Adult v1.80 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v1.79 BRCA2 Zornitza Stark edited their review of gene: BRCA2: Added comment: Association between biallelic variants and FA: MODERATE actionability by ClinGen.

In the absence of congenital anomalies can present with BMF in adulthood and surveillance by haematologist is warranted to optimise timing of BMT.; Changed phenotypes: Breast-ovarian cancer, familial, 2, MIM#612555, Fanconi anaemia, complementation group D1, MIM# 605724; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v1.79 ITGA2B Zornitza Stark Marked gene: ITGA2B as ready
Additional findings_Adult v1.79 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
Additional findings_Adult v1.79 ITGA2B Zornitza Stark Classified gene: ITGA2B as Green List (high evidence)
Additional findings_Adult v1.79 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
Additional findings_Adult v1.78 ITGA2B Zornitza Stark gene: ITGA2B was added
gene: ITGA2B was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: ITGA2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800
Review for gene: ITGA2B was set to GREEN
Added comment: STRONG actionability by ClinGen.

GT is a moderate to severe haemorrhagic disorder characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma or surgical procedures due to defective platelet aggregation. Purpura, easy bruising, epistaxis, gingival bleeding and menorrhagia are the most common clinical features. Presentation is typically in infancy but severity can be variable.

A range of treatments available depending on severity as guided by specialist haematological services.
Sources: Expert list
Additional findings_Adult v1.77 ITGB3 Zornitza Stark Marked gene: ITGB3 as ready
Additional findings_Adult v1.77 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
Additional findings_Adult v1.77 ITGB3 Zornitza Stark Classified gene: ITGB3 as Green List (high evidence)
Additional findings_Adult v1.77 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
Additional findings_Adult v1.76 ITGB3 Zornitza Stark gene: ITGB3 was added
gene: ITGB3 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: ITGB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITGB3 were set to Bleeding disorder, platelet-type, 24, MIM#619271
Review for gene: ITGB3 was set to GREEN
Added comment: STRONG actionability by ClinGen.

GT is a moderate to severe haemorrhagic disorder characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma or surgical procedures due to defective platelet aggregation. Purpura, easy bruising, epistaxis, gingival bleeding and menorrhagia are the most common clinical features. Presentation is typically in infancy but severity can be variable.

A range of treatments available depending on severity as guided by specialist haematological services.
Sources: Expert list
Additional findings_Adult v1.75 OAT Zornitza Stark Marked gene: OAT as ready
Additional findings_Adult v1.75 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Additional findings_Adult v1.75 OAT Zornitza Stark Classified gene: OAT as Green List (high evidence)
Additional findings_Adult v1.75 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Additional findings_Adult v1.74 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Review for gene: OAT was set to GREEN
Added comment: MODERATE actionability by ClinGen.

The condition is characterized by the development of chorioretinal atrophic patches that start in the mid-peripheral retina in the first decade of life. Myopia, night blindness, changes in the macula (including cystic changes), and visual field affection usually start in the first or second decade. Most patients with GA have posterior subcapsular cataracts by the end of the second decade. Irreversible loss of vision and blindness generally occurs between 40 and 55 years of age but is highly variable.

Treatment of GA consists mainly of dietary modifications to help lower elevated systemic ornithine levels. Restriction of dietary arginine, a precursor of ornithine, appears to have therapeutic value.
Sources: Expert list
Additional findings_Adult v1.73 PHYH Zornitza Stark Marked gene: PHYH as ready
Additional findings_Adult v1.73 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Additional findings_Adult v1.73 PHYH Zornitza Stark Classified gene: PHYH as Green List (high evidence)
Additional findings_Adult v1.73 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Additional findings_Adult v1.72 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease, MIM# 266500
Review for gene: PHYH was set to GREEN
Added comment: MODERATE actionability by ClinGen.

Adult forms described. RD is clinically characterized by anosmia (absence of smell) and early-onset retinitis pigmentosa (RP), which are both universal findings with variable combinations of peripheral neuropathy, cerebellar ataxia, deafness, ichthyosis, and short metatarsals and metacarpals.

Treatment for many manifestations of RD are supportive: hydrating creams for ichthyosis, drugs for cardiac arrhythmias and cardiomyopathy, cataract surgery, and implantation of cochlear implants.

The standard therapy for prevention of primary manifestations is to lower plasma phytanic acid (PA) levels by dietary restriction of PA. For acute care or when diet is not sufficient, PA may be eliminated by plasmapheresis or lipid apheresis. These therapies have been found to reduce plasma PA concentrations by 50-70%, and possibly stabilize or improve symptoms of ichthyosis, sensory neuropathy, ataxia, improve cardiac arrhythmia, and extreme weakness. It is uncertain whether either treatment affects the progression of the anosmia, deafness, or RP and other ocular outcomes.
Sources: Expert list
Additional findings_Adult v1.71 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Additional findings_Adult v1.71 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.71 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Green List (high evidence)
Additional findings_Adult v1.71 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.70 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT syndrome, MIM# 269880
Review for gene: PIK3R1 was set to GREEN
Added comment: MODERATE actionability in adults by ClinGen.

Many features manifest in infancy/childhood but diagnosis may be delayed. Insulin resistance has a highly variable age at diagnosis ranging from 7-49 years. Though insulin resistance may be evident in mid-childhood or adolescence, diabetes mellitus typically does not develop until early adulthood.
Sources: Expert list
Additional findings_Adult v1.69 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Additional findings_Adult v1.69 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.69 CPT2 Zornitza Stark Classified gene: CPT2 as Green List (high evidence)
Additional findings_Adult v1.69 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.68 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced, MIM# 255110
Review for gene: CPT2 was set to GREEN
Added comment: Variable age of onset and severity. Adult form tends to be myopathic.

The recommendation for treatment of CPT II deficiency is to follow current treatment for long-chain FAO disorders:
- Reduce the amount of long-chain dietary fat (<20%) while covering the need for essential fatty acids
- Provide carnitine to convert potentially toxic long-chain acyl-CoAs to acylcarnitines
- Provide a large fraction of calories as carbohydrates (70%) to reduce body fat utilization and prevent hypoglycaemia
- Provide approximately one third of calories as even-chain medium chain triglycerides (MCT)
Sources: Expert list
Additional findings_Adult v1.67 F7 Zornitza Stark Marked gene: F7 as ready
Additional findings_Adult v1.67 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Additional findings_Adult v1.67 F7 Zornitza Stark Classified gene: F7 as Green List (high evidence)
Additional findings_Adult v1.67 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Additional findings_Adult v1.66 F7 Zornitza Stark gene: F7 was added
gene: F7 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F7 were set to Factor VII deficiency, MIM# 227500
Review for gene: F7 was set to GREEN
Added comment: STRONG actionability by ClinGen.

Measurement of Factor VII levels available and guide management. Therapeutic options include administration of recombinant activated factor VII (rFVIIa), or plasma derived FVII concentrate (if rFVIIa is not available) and through use of antifibrinolytic agents (such as tranexamic acid).
Sources: Expert list
Additional findings_Adult v1.65 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Additional findings_Adult v1.65 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.65 RUNX1 Zornitza Stark Classified gene: RUNX1 as Green List (high evidence)
Additional findings_Adult v1.65 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.64 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Review for gene: RUNX1 was set to GREEN
Added comment: MODERATE actionability in adults by ClinGen.

Bleeding tendency and haematological malignancies with variable age of onset. Mostly based on expert opinion, regular evaluation of haematological indices by a haematologist is recommended, with consideration given to optimal timing of BMT.
Sources: Expert list
Additional findings_Adult v1.63 SDHA Zornitza Stark Marked gene: SDHA as ready
Additional findings_Adult v1.63 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Additional findings_Adult v1.63 SDHA Zornitza Stark Classified gene: SDHA as Green List (high evidence)
Additional findings_Adult v1.63 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Additional findings_Adult v1.62 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHA were set to Paragangliomas 5 , MIM#614165
Review for gene: SDHA was set to GREEN
Added comment: MODERATE actionability by ClinGen.

Lifelong biochemical and clinical surveillance for paragangliomas recommended.
Sources: Expert list
Additional findings_Adult v1.61 CP Zornitza Stark Marked gene: CP as ready
Additional findings_Adult v1.61 CP Zornitza Stark Gene: cp has been classified as Green List (High Evidence).
Additional findings_Adult v1.61 CP Zornitza Stark Classified gene: CP as Green List (high evidence)
Additional findings_Adult v1.61 CP Zornitza Stark Gene: cp has been classified as Green List (High Evidence).
Additional findings_Adult v1.60 CP Zornitza Stark gene: CP was added
gene: CP was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminaemia, MIM#604290
Review for gene: CP was set to GREEN
Added comment: Progressive disorder of iron accumulation in the brain and viscera. Potentially amenable to treatment with iron chelating agents.

MODERATE actionability by ClinGen.
Sources: Expert list
Additional findings_Adult v1.59 COL4A4 Zornitza Stark Marked gene: COL4A4 as ready
Additional findings_Adult v1.59 COL4A4 Zornitza Stark Gene: col4a4 has been classified as Green List (High Evidence).
Additional findings_Adult v1.59 COL4A4 Zornitza Stark Classified gene: COL4A4 as Green List (high evidence)
Additional findings_Adult v1.59 COL4A4 Zornitza Stark Gene: col4a4 has been classified as Green List (High Evidence).
Additional findings_Adult v1.58 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Additional findings_Adult. Sources: Literature
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome 2, autosomal recessive, MIM#203780
Review for gene: COL4A4 was set to GREEN
Added comment: STRONG actionability by ClinGen.

Although heterozygous variants can cause disease, this is typically milder, later-onset and of variable penetrance/expressivity so less suited to population screening.

Screen for biallelic disease only at the moment. Referrals to renal, ophthalmology and audiology recommended.
Sources: Literature
Additional findings_Adult v1.57 COL4A3 Zornitza Stark Marked gene: COL4A3 as ready
Additional findings_Adult v1.57 COL4A3 Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence).
Additional findings_Adult v1.57 COL4A3 Zornitza Stark Classified gene: COL4A3 as Green List (high evidence)
Additional findings_Adult v1.57 COL4A3 Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence).
Additional findings_Adult v1.56 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A3 were set to Alport syndrome 2, autosomal recessive, MIM# 203780
Review for gene: COL4A3 was set to GREEN
Added comment: STRONG actionability by ClinGen.

Although heterozygous variants can cause disease, this is typically milder, later-onset and of variable penetrance/expressivity so less suited to population screening.

Screen for biallelic disease only at the moment. Referrals to renal, ophthalmology and audiology recommended.
Sources: Expert list
Additional findings_Adult v1.55 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Additional findings_Adult v1.55 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Additional findings_Adult v1.55 COL4A5 Zornitza Stark Classified gene: COL4A5 as Green List (high evidence)
Additional findings_Adult v1.55 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Additional findings_Adult v1.54 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked, MIM# 301050
Review for gene: COL4A5 was set to GREEN
Added comment: STRONG actionability by ClinGen.

Both males and females can be affected, though females show variable expressivity. Genotype-phenotype correlation available with truncating/frameshift variants typically resulting in more severe disease. Referrals to renal, ophthalmology and audiology for surveillance.
Sources: Expert list
Additional findings_Adult v1.53 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Additional findings_Adult v1.53 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Additional findings_Adult v1.53 SLC22A5 Zornitza Stark Classified gene: SLC22A5 as Green List (high evidence)
Additional findings_Adult v1.53 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Additional findings_Adult v1.52 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM# 212140
Review for gene: SLC22A5 was set to GREEN
Added comment: MODERATE actionability in adults by ClinGen.

Adulthood presentation is associated with minor symptoms like fatigue and decreased stamina, but dilated cardiomyopathy and arrhythmias and sudden cardiac death have also been reported.

The main treatment for CDSP is lifelong oral levocarnitine (L-carnitine) supplementation. The benefit of treatment in asymptomatic adults is less well established, but is hoped it may prevent cardiac events and decompensations. Metabolic decompensation and hypoglycaemic episodes are treated with glucose in addition to carnitine supplementation. Referral to cardiology for cardiomyopathy assessment is recommended.
Sources: Expert list
Additional findings_Adult v1.51 CDKN2A Zornitza Stark Marked gene: CDKN2A as ready
Additional findings_Adult v1.51 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Green List (High Evidence).
Additional findings_Adult v1.51 CDKN2A Zornitza Stark Classified gene: CDKN2A as Green List (high evidence)
Additional findings_Adult v1.51 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Green List (High Evidence).
Additional findings_Adult v1.50 CDKN2A Zornitza Stark gene: CDKN2A was added
gene: CDKN2A was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN2A were set to {Melanoma-pancreatic cancer syndrome} MIM#606719
Review for gene: CDKN2A was set to GREEN
Added comment: MODERATE actionability by ClinGen.

Refer to cancer genetics services, surveillance for melanoma and pancreatic cancer available.
Sources: Expert list
Additional findings_Adult v1.49 G6PD Zornitza Stark changed review comment from: Haemolytic crises can be prevented through avoidance of triggering foods, medicines and other chemicals.
Sources: Expert list; to: Haemolytic crises can be prevented through avoidance of triggering foods, medicines and other chemicals.

MODERATE actionability in adults by ClinGen.

Sources: Expert list
Additional findings_Adult v1.49 G6PD Zornitza Stark Marked gene: G6PD as ready
Additional findings_Adult v1.49 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Additional findings_Adult v1.49 G6PD Zornitza Stark Classified gene: G6PD as Green List (high evidence)
Additional findings_Adult v1.49 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Additional findings_Adult v1.48 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: G6PD were set to Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to GREEN
Added comment: Haemolytic crises can be prevented through avoidance of triggering foods, medicines and other chemicals.
Sources: Expert list
Additional findings_Adult v1.47 NAGS Zornitza Stark Marked gene: NAGS as ready
Additional findings_Adult v1.47 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Additional findings_Adult v1.47 NAGS Zornitza Stark Classified gene: NAGS as Green List (high evidence)
Additional findings_Adult v1.47 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Additional findings_Adult v1.46 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency - MIM#237310
Review for gene: NAGS was set to GREEN
Added comment: Severe deficiency typically presents in infancy but milder deficiency can present at any age. Metabolic decompensation can be triggered by intercurrent illness, fasting, protein loading, pregnancy/delivery. Hyperammonaemic encephalopathy is associated with high mortality rates.

The American College of Medical Genetics and Genomics (ACMG) has developed an ACT sheet to help clinical decision-making during transition to adult health care: https://www.acmg.net/PDFLibrary/Nags-Deficiency-Transition.pdf.

The mainstay of long-term management of NAGSD is treatment with carbamylglutamate (also called carglumic acid or N-carbamyl-L-glutamate), an oral NAGS analogue. Given the risk of acute metabolic decompensation during surgery and general anesthesia, elective surgery should only be carried out in centers able and prepared to deal with hyperammonaemic decompensations. Pregnancies should be managed as high risk. Steroids and valproic acid to be avoided.
Sources: Expert list
Additional findings_Adult v1.45 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Additional findings_Adult v1.45 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Additional findings_Adult v1.45 EPCAM Zornitza Stark Classified gene: EPCAM as Green List (high evidence)
Additional findings_Adult v1.45 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Additional findings_Adult v1.44 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Additional findings_Adult. Sources: Expert list
SV/CNV tags were added to gene: EPCAM.
Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPCAM were set to Lynch syndrome 8, MONDO:0013196
Mode of pathogenicity for gene: EPCAM was set to Other
Review for gene: EPCAM was set to GREEN
Added comment: DEFINITIVE actionability by ClinGen in adults.

Deletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene.
Sources: Expert list
Additional findings_Adult v1.43 FH Zornitza Stark Marked gene: FH as ready
Additional findings_Adult v1.43 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Additional findings_Adult v1.43 FH Zornitza Stark Classified gene: FH as Green List (high evidence)
Additional findings_Adult v1.43 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Additional findings_Adult v1.42 FH Zornitza Stark gene: FH was added
gene: FH was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FH were set to Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
Review for gene: FH was set to GREEN
Added comment: STRONG actionability in adults by ClinGen.

Referral to cancer genetics service for surveillance for skin, gynaecological and renal manifestations, notably renal cancers.
Sources: Expert list
Additional findings_Adult v1.41 CBS Zornitza Stark Marked gene: CBS as ready
Additional findings_Adult v1.41 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Additional findings_Adult v1.41 CBS Zornitza Stark Classified gene: CBS as Green List (high evidence)
Additional findings_Adult v1.41 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Additional findings_Adult v1.40 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200
Review for gene: CBS was set to GREEN
Added comment: MODERATE actionability in adults by ClinGen.

Progressive disorder with variable range of onset of clinical manifestations, including adult presentations. Diagnosis can be delayed. Thromboembolism is the major cause of disability and death. Pregnancy and postpartum period present heightened risk. The aim of treatment is to prevent all complications (early and late) by controlling the elevated total plasma homocysteine (tHcy) concentrations by using one or a combination of treatments. This includes assessment of whether the disorder is pyridoxine-responsive and dietary measures. Betaine and anti-coagulants can be used as adjunct treatments.

For pathogenic variants commonly present in the homozygous state, there are a few well established genotype-phenotype correlations with good concordance between pyridoxine responsiveness and a milder clinical phenotype. For example, one of the most the common variants, c.833T>C (p.I278T), is pan ethnic, accounts for nearly 24% of all pathogenic variants, and when homozygous leads to a mild pyridoxine-responsive type of CBS deficiency.
Sources: Expert list
Additional findings_Adult v1.39 ACADM Zornitza Stark Marked gene: ACADM as ready
Additional findings_Adult v1.39 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Additional findings_Adult v1.39 ACADM Zornitza Stark Classified gene: ACADM as Green List (high evidence)
Additional findings_Adult v1.39 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Additional findings_Adult v1.38 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Review for gene: ACADM was set to GREEN
Added comment: An individual with MCAD deficiency is at risk of metabolic decompensation when their energy needs are not met with exogenous sources and have to rely on stored fat, such as during prolonged fasting or periods of higher energy demand. Clinical symptoms in a previously apparently healthy individual with MCAD deficiency include hypoketotic hypoglycemia and nausea or vomiting that may progress to lethargy, seizures, coma, and even sudden death. Symptoms may be triggered by a common illness, fasting, excessive drug or alcohol intake, diarrhea, or vomiting and can progress to seizures or coma within 1-2 hours of onset; on occasion, seizures or coma may be the presenting sign. Hepatomegaly and liver disease are often present during an acute episode. Uncontrolled metabolic decompensation can increase the risk of neurological findings secondary to brain injury (e.g. loss of developmental milestones) and chronic muscular weakness.

Late-onset presentations have been described in adults after prolonged fasting, including after fasting for surgery, or with alcohol intoxication, often with fatal results.

The mainstay for prevention of primary manifestations in asymptomatic patients with MCAD deficiency is avoidance of prolonged fasting.

There is a risk of metabolic decompensation during surgery, particularly if catabolism is precipitated by fasting and surgery. It is important to minimize catabolism by providing adequate amounts of carbohydrate (orally or intravenously) prior to and during surgery.

Low-dose L-carnitine supplementation is recommended when carnitine levels are below the normal range. Individuals with MCAD deficiency may develop a secondary carnitine deficiency as excess medium chain fatty acids bind to free carnitine and are excreted.

Individuals should be provided with an emergency protocol/letter to carry at all times. They should be strongly advised to seek medical attention if the individual with MCAD deficiency has an acute illness accompanied by poor intake, vomiting, and/or lethargy. The letter should contain patient identifiers, description of the disorder, emergency treatment protocol, and contact information for the metabolic specialist.

Pregnant women should receive supplemental carnitine to account for reduced plasma free carnitine levels during pregnancy, though free carnitine may still not reach pre-pregnancy levels. Intravenous glucose should be started as soon as labour begins and continued until the patient has adequate oral intake and can maintain normoglycaemia.
Sources: Expert list
Additional findings_Adult v1.37 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Additional findings_Adult v1.37 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.37 CDH1 Zornitza Stark Classified gene: CDH1 as Green List (high evidence)
Additional findings_Adult v1.37 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.36 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH1 were set to Diffuse gastric cancer, MONDO:0957519; CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488
Review for gene: CDH1 was set to GREEN
Added comment: Individuals with pathogenic CDH1 mutations are currently advised to undergo risk-reducing total gastrectomy due to their high lifetime risk of developing gastric cancer and the limited efficacy of surveillance modalities. Most guidelines recommend gastrectomy after age 18 and before age 30-40.

Risk-reducing mastectomy could be considered, but is not uniformly recommended, as it may be a reasonable option for some women who carry CDH1 mutations.
Sources: Expert list
Additional findings_Adult v1.35 GBA Zornitza Stark Marked gene: GBA as ready
Additional findings_Adult v1.35 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Additional findings_Adult v1.35 GBA Zornitza Stark Classified gene: GBA as Green List (high evidence)
Additional findings_Adult v1.35 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Additional findings_Adult v1.34 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease, type I MIM#230900
Review for gene: GBA was set to GREEN
Added comment: Gaucher disease type 1 can present at any age.

GD is a lysosomal storage disorder caused by a deficiency of glucocerebrosidase which results in the multisystemic accumulation of glucosylceramide-laden macrophages (Gaucher cells) in various tissues: spleen, liver, bone marrow, bone mineral, and less often the lungs, skin, eyes, kidneys, lymphatic system, and heart. The spectrum of clinical manifestations and symptoms includes hepatosplenomegaly (HSM), abdominal discomfort and distension, skeletal disease (e.g., bone pain, osteopenia, bone infarct, osteonecrosis, pathological fractures), cytopenia (e.g., thrombocytopenia, anemia), fatigue, excessive bleeding, increased risk of infections, cardiovascular complications, and pulmonary disease.

Enzyme replacement therapy (ERT) with recombinant glucocerebrosidase (imiglucerase, velaglucerase, or taliglucerase) is the current standard of care for symptomatic individuals with GD type 1.
Sources: Expert list
Additional findings_Adult v1.33 HMBS Zornitza Stark Marked gene: HMBS as ready
Additional findings_Adult v1.33 HMBS Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence).
Additional findings_Adult v1.33 HMBS Zornitza Stark Classified gene: HMBS as Green List (high evidence)
Additional findings_Adult v1.33 HMBS Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence).
Additional findings_Adult v1.32 HMBS Zornitza Stark gene: HMBS was added
gene: HMBS was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, MIM#176000
Review for gene: HMBS was set to GREEN
Added comment: AIP is characterized by intermittent and sometimes life-threatening acute neurovisceral attacks of severe pain, usually abdominal and generalized, without peritoneal signs. While all individuals with a pathogenic variant in HMBS are predisposed to acute attacks, most never have symptoms, and are said to have latent (or presymptomatic AIP). Attacks may be accompanied by nausea, vomiting, distention, constipation, diarrhea and ileus. Tachycardia, hypertension, and hyponatremia can occur, with fever, sweating, restlessness, and tremor occurring less frequently. Urinary retention, incontinence, and dysuria may be present. Neurologic findings may also occur including mental changes (e.g., insomnia, paranoia), convulsions, hallucinations, peripheral neuropathy (that may progress to respiratory paralysis), pain in extremities, paresis, weakness, and altered consciousness (from somnolence to coma). Seizures may occur in acute attacks, especially in individuals with hyponatremia. Attacks may be provoked by certain drugs, crash dieting, alcoholic beverages, smoking, endocrine factors, calorie restriction, stress, and infections or surgery which can increase the demand for hepatic heme. Attacks are usually due to the additive effects of several triggers, including some that are unknown. Individuals are usually well between attacks.

Avoidance of precipitating factors and treatment of acute crises are the mainstays of clinical management.
Sources: Expert list
Additional findings_Adult v1.31 FLCN Zornitza Stark Classified gene: FLCN as Green List (high evidence)
Additional findings_Adult v1.31 FLCN Zornitza Stark Gene: flcn has been classified as Green List (High Evidence).
Additional findings_Adult v1.30 FLCN Zornitza Stark gene: FLCN was added
gene: FLCN was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome (MIM#135150)
Review for gene: FLCN was set to GREEN
Added comment: BHDS is a rare condition characterized by renal tumors of varying histologic subtypes, cutaneous manifestations (cutaneous collagenomas and fibrofolliculomas, oral papules, and epidermal cysts), and pulmonary cysts (most often located in the basal lung regions), which can manifest as spontaneous pneumothoraces (with a clinical presentation ranging from asymptomatic to dyspnea and chest pain). Cutaneous perifollicular fibromas, acrochordons, and angiofibromas have also been associated with BHDS, but only fibrofolliculomas are specific for BHDS. Other findings reported in a small number of individuals includes thyroid nodules and cysts, thyroid cancer, colon polyps, colorectal cancer, parotid tumors, cutaneous-type oral papules, cutaneous melanomas, and various other tumor types.

Initial screening for major clinical manifestations in individuals with BHDS includes screening for renal, lung and skin manifestations (including lung and pelvic CT). Referral to a cancer genetics professional should be considered.
Sources: Expert list
Additional findings_Adult v1.29 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Additional findings_Adult v1.29 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.29 LAMP2 Zornitza Stark Classified gene: LAMP2 as Green List (high evidence)
Additional findings_Adult v1.29 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.28 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: LAMP2 were set to Danon disease, MIM#300257
Review for gene: LAMP2 was set to GREEN
Added comment: Presents with HCM, skeletal myopathy, and ID (though typically mild).

Echocardiography is recommended at least every 1-2 years (more frequent as cardiac structural changes and symptoms progress). ECG and BNP/troponin/creatine kinase levels at least annually. Cardiac MRI imaging might be helpful in identifying mild phenotypes and should be used upon clinical suspicion or when adequate echocardiographic images are not attainable. Ambulatory 24-hour Holter monitoring (at least yearly, or every 6 months if the left atrium is dilated) or consideration of an implantable loop recorder is recommended based on the high incidence of atrial fibrillation and advanced atrioventricular block. Cardiac evaluations every three to six months, including consideration of transplant evaluation, may be appropriate in patients with evidence of significant cardiac involvement. Cardiac MRI imaging should be repeated every 2-3 years to monitor progression of fibrosis.
Sources: Expert list
Additional findings_Adult v1.27 CDKN1B Zornitza Stark Marked gene: CDKN1B as ready
Additional findings_Adult v1.27 CDKN1B Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence).
Additional findings_Adult v1.27 CDKN1B Zornitza Stark Classified gene: CDKN1B as Green List (high evidence)
Additional findings_Adult v1.27 CDKN1B Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence).
Additional findings_Adult v1.26 CDKN1B Zornitza Stark gene: CDKN1B was added
gene: CDKN1B was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Review for gene: CDKN1B was set to GREEN
Added comment: MEN4 is a very rare hereditary cancer syndrome characterized by parathyroid adenoma/hyperplasia and pituitary adenomas (Cushing disease, prolactinoma, somatotroph, corticotroph, and nonfunctioning adenomas). Primary hyperparathyroidism (pHPT) as a uniglandular disease is the leading pathology. Less frequently, additional endocrine/neuroendocrine neoplasias have been reported, including gastroenteropancreatic neuroendocrine tumors (NETs) and Zollinger-Ellison syndrome, NETs of the cervix and lungs, papillary thyroid carcinoma, thymic tumors, and adrenal masses. Other reported rare manifestations include meningiomas, and cancers of the uterus, testes, breast, colon, and kidneys.

Presymptomatic surveillance recommendations for MEN4 have been suggested and are as follows:

•Annual blood tests recommended for pHPT (calcium) and biochemical surveillance for secretory pituitary somatotroph adenomas (annual IGF-1), beginning in adolescence.

•Endocrine surveillance is primarily clinical and should concentrate on evidence of growth hormone excess (gigantism/acromegaly) and glucocorticoid excess (Cushing syndrome), with concern for either prompting endocrine consultation.
Sources: Expert list
Additional findings_Adult v1.25 HNF4A Zornitza Stark Marked gene: HNF4A as ready
Additional findings_Adult v1.25 HNF4A Zornitza Stark Gene: hnf4a has been classified as Green List (High Evidence).
Additional findings_Adult v1.25 HNF4A Zornitza Stark Classified gene: HNF4A as Green List (high evidence)
Additional findings_Adult v1.25 HNF4A Zornitza Stark Gene: hnf4a has been classified as Green List (High Evidence).
Additional findings_Adult v1.24 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF4A were set to MODY, type I, OMIM # 125850
Review for gene: HNF4A was set to GREEN
Added comment: Annual screening for diabetes recommended in adults. Individuals with pathogenic variants in HNF4A and who develop clinical symptoms can initially be treated with diet. With progressive deterioration in glycaemic control, low-dose sulfonylureas are recommended as the first-line treatment.
Sources: Expert list
Additional findings_Adult v1.23 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Additional findings_Adult v1.23 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.23 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia MIM#215700 to Citrullinaemia MIM#215700
Additional findings_Adult v1.22 ASS1 Zornitza Stark Classified gene: ASS1 as Green List (high evidence)
Additional findings_Adult v1.22 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.21 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Additional findings_Adult. Sources: Literature
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia MIM#215700
Review for gene: ASS1 was set to GREEN
Added comment: Approximately 1/3 of individuals present with late onset.

Hyperammonaemia can be triggered by protein overload, catabolic events (including pregnancy), or certain drugs and can lead to neurological deficits. Liver failure is now recognized as a primary presentation. Hepatic dysfunction, when present, is often noted at the time of initial hyperammonaemic episode but has also developed in individuals not experiencing significant hyperammonemia.

The mainstay of long-term management is dietary treatment based on minimizing the nitrogen load on the urea cycle under the expertise of a specialist metabolic dietician; may also include nitrogen scavengers.

Elective surgery should be performed in centers with a metabolic department including emergency treatment options for hyperammonaemia. Steroids and valproate contraindicated.
Sources: Literature
Additional findings_Adult v1.20 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Additional findings_Adult v1.20 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.20 CPS1 Zornitza Stark Classified gene: CPS1 as Green List (high evidence)
Additional findings_Adult v1.20 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.19 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency MIM#237300
Review for gene: CPS1 was set to GREEN
Added comment: Can rarely present in adulthood, including in the postpartum period with coma.

ACMG factsheet relating to management of adults: https://www.acmg.net/PDFLibrary/CPS-I-Deficiency-Transition.pdf.

Management aims to maintain stable metabolic control and to reduce or eliminate chronic complications. Treatment includes medications to promote waste nitrogen excretion (nitrogen scavengers such as sodium benzoate, sodium phenylacetate, sodium phenylbutyrate, and glycerol phenylbutyrate); low-protein diet; and supplementation with arginine or citrulline, essential nutrients, and essential amino acids.

Given the risk of acute metabolic decompensation during surgery and general anaesthesia, elective surgery should only be carried out in centers able and prepared to deal with hyperammonemic decompensations. Specialised management is also required during pregnancy.

Steroids and valproate are to be avoided.
Sources: Expert list
Additional findings_Adult v1.18 F5 Zornitza Stark commented on gene: F5: Heterozygous variants assessed as LIMITED actionability by ClinGen.
Additional findings_Adult v1.18 PYGM Zornitza Stark Marked gene: PYGM as ready
Additional findings_Adult v1.18 PYGM Zornitza Stark Gene: pygm has been classified as Green List (High Evidence).
Additional findings_Adult v1.18 PYGM Zornitza Stark Classified gene: PYGM as Green List (high evidence)
Additional findings_Adult v1.18 PYGM Zornitza Stark Gene: pygm has been classified as Green List (High Evidence).
Additional findings_Adult v1.17 PYGM Zornitza Stark gene: PYGM was added
gene: PYGM was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease, MIM# 232600
Review for gene: PYGM was set to GREEN
Added comment: Can present in adulthood.

Intense exercise can precipitate myoglobunuria, which can result in renal failure. Aerobic exercise training may improve conditioning, and static contractions should be avoided.
Caution with some anaesthetics and statins.
Sources: Expert list
Additional findings_Adult v1.16 F5 Zornitza Stark Marked gene: F5 as ready
Additional findings_Adult v1.16 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Additional findings_Adult v1.16 F5 Zornitza Stark Classified gene: F5 as Green List (high evidence)
Additional findings_Adult v1.16 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Additional findings_Adult v1.15 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to Factor V deficiency, MIM# 227400
Review for gene: F5 was set to GREEN
Added comment: Bleeding tendency to be managed by haematologist, and may include blood products at times of increased risk.
Sources: Expert list
Additional findings_Adult v1.14 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Additional findings_Adult v1.14 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.14 ABCD1 Zornitza Stark Classified gene: ABCD1 as Green List (high evidence)
Additional findings_Adult v1.14 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.13 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM#300100
Review for gene: ABCD1 was set to GREEN
Added comment: Can infrequently present in adulthood.

Evaluation by neurologist and MRI brain recommended. Serial adrenal evaluation recommended.
Sources: Expert list
Additional findings_Adult v1.12 CDC73 Zornitza Stark Marked gene: CDC73 as ready
Additional findings_Adult v1.12 CDC73 Zornitza Stark Gene: cdc73 has been classified as Green List (High Evidence).
Additional findings_Adult v1.12 CDC73 Zornitza Stark Classified gene: CDC73 as Green List (high evidence)
Additional findings_Adult v1.12 CDC73 Zornitza Stark Gene: cdc73 has been classified as Green List (High Evidence).
Additional findings_Adult v1.11 CDC73 Zornitza Stark gene: CDC73 was added
gene: CDC73 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Review for gene: CDC73 was set to GREEN
Added comment: CDC73-related conditions are considered as a spectrum that includes three phenotypes: HPRT2; hyperparathyroidism 1 (HPRT1; also known as familial isolated hyperparathyroidism or FIHP) and parathyroid carcinoma (PC).

To establish the extent of disease and needs in an individual initially diagnosed with HRPT2, the following are recommended:

•Evaluation for jaw tumors with panoramic jaw x-ray
•Evaluation for renal lesions with ultrasound examination
•Evaluation of standard skeletal and renal end organ damage of pHPT
•Evaluation for uterine tumors with pelvic ultrasound examination, CT, or MRI (starting at reproductive age).

Individuals newly diagnosed with any CDC73-related condition who have evidence of pHPT should be evaluated using a 24-hour urine calcium-to-creatinine clearance ratio.

Hypercalcemic individuals (including asymptomatic) with pathogenic variants in CDC73 should be evaluated for pHPT (concomitant calcium and intact [i]PTH levels) and should be managed in consultation with an endocrinologist, with consideration given to referral to a high-volume parathyroid surgeon.
Sources: Expert list
Additional findings_Adult v1.10 SLC25A15 Zornitza Stark Marked gene: SLC25A15 as ready
Additional findings_Adult v1.10 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Additional findings_Adult v1.10 SLC25A15 Zornitza Stark Classified gene: SLC25A15 as Green List (high evidence)
Additional findings_Adult v1.10 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Additional findings_Adult v1.9 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970
Review for gene: SLC25A15 was set to GREEN
Added comment: Approximately one third of individuals present in adolescence/adulthood.

Long-term management aims to maintain stable metabolic control, to reduce chronic complications, and to achieve as close to normal development and growth as possible. A low protein diet and citrulline or arginine supplementation is recommended, which prevents hyperammonemia and liver disease but the impact of these measures on pyramidal dysfunction is unclear. Optimal protein intake must be determined by individual titration in every individual. If protein tolerance is very low, essential amino acids have to be supplemented. Vitamin and trace element supplementation may also be required. A specialist metabolic dietitian should be involved.

Nitrogen scavengers (sodium benzoate, sodium phenylbutyrate [PBA] or sodium phenylacetate, glycerol phenylbutyrate) are a mainstay of therapy in individuals with a UCD. Individualized dosing is recommended.

Presentation can be non-specific and diagnostic delay is common.
Sources: Expert list
Additional findings_Adult v1.8 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Additional findings_Adult v1.8 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Additional findings_Adult v1.8 HNF1B Zornitza Stark Classified gene: HNF1B as Green List (high evidence)
Additional findings_Adult v1.8 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Additional findings_Adult v1.7 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Additional findings_Adult. Sources: Expert list
SV/CNV tags were added to gene: HNF1B.
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920
Review for gene: HNF1B was set to GREEN
Added comment: Treatment is symptomatic and interdisciplinary, requiring nephrologist and diabetologist. Surveillance involves routine blood tests. Although initial response to oral antihyperglycaemic agents including sulfonylureas is common, clinical course tends to be progressive and most ultimately require treatment with insulin. Treatment for renal manifestations can include RRT and kidney transplantation.

Misdiagnosis and delayed diagnosis of MODY are common.
Sources: Expert list
Additional findings_Adult v1.6 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Additional findings_Adult v1.6 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Additional findings_Adult v1.6 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence)
Additional findings_Adult v1.6 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Additional findings_Adult v1.5 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinaemia, adult-onset type II, MIM# 603471
Review for gene: SLC25A13 was set to GREEN
Added comment: CTLN2 typically presents in childhood but presents with hyperammonaemia in adolescence or adulthood. Presentation is sudden and usually between ages 20 and 50 years. Misdiagnosis and delayed diagnosis in adults is common.

Possible interventions include liver transplantation and/or dietary therapy, ongoing blood monitoring, and avoidance of possible triggers (e.g., medications and alcohol).

Individuals with UCDs require lifelong monitoring by a multidisciplinary team. Long-term treatment of UCDs is challenging for individuals and families because of the poor palatability (particularly of essential amino acids), the volume and frequency of diet and drug administrations. Nasogastric tube or gastrostomy feeding may be necessary to ensure sufficient energy and/or protein intake. Sodium pyruvate is administered orally as a powder, granules, capsules, tablets, or liquid.
Sources: Expert list
Additional findings_Adult v1.4 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Additional findings_Adult v1.4 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.4 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Green List (high evidence)
Additional findings_Adult v1.4 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.3 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINA1 were set to alpha 1-antitrypsin deficiency, MONDO#0013282
Review for gene: SERPINA1 was set to GREEN
Added comment: MODERATE evidence for actionability in adults by ClinGen.

Surveillance:
A respiratory functional assessment is suggested at the end of adolescence and afterwards at 2-to-3-year intervals. Respiratory monitoring should include spirometry with bronchodilator test every year, annual plethysmography and carbon monoxide diffusion capacity, and chest CT repeatedly as per medical indication.

Liver monitoring should include physical examination including focused exam for signs of liver disease, laboratory assessment and abdominal ultrasound every 6 to 12 months (or more frequently as clinically indicated). The serum liver assessment should include transaminases (AST and ALT), alkaline phosphatase, GGT, bilirubin, albumin, coagulation tests, platelets, fat soluble enzymes, and alpha-fetoprotein.

Also suggested: additional vaccinations.

Agents to avoid: tobacco smoke.

Augmentation therapy of AAT infusions also available.

Condition is under diagnosed/diagnostic delays are common.

Some uncertainty about penetrance.
Sources: Expert list
Additional findings_Adult v1.2 Zornitza Stark Panel status changed from public to internal
Additional findings_Adult v1.0 Zornitza Stark promoted panel to version 1.0
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