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Dilated and arrhythmogenic cardiomyopathy v2.20 FKRP Achchuthan Shanmugasundram Classified gene: FKRP as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v2.20 FKRP Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be considered for promotion to green rating in this panel in the next GMS review.
Dilated and arrhythmogenic cardiomyopathy v2.20 FKRP Achchuthan Shanmugasundram Gene: fkrp has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v2.19 FKRP Achchuthan Shanmugasundram Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155
Dilated and arrhythmogenic cardiomyopathy v2.18 FKRP Achchuthan Shanmugasundram Publications for gene: FKRP were set to
Dilated and arrhythmogenic cardiomyopathy v2.17 FKRP Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FKRP.
Tag Q4_23_NHS_review tag was added to gene: FKRP.
Dilated and arrhythmogenic cardiomyopathy v2.17 FKRP Achchuthan Shanmugasundram changed review comment from: PMID:32914449 reviewed 56 patients with limb-girdle muscular dystrophy and biallelic FKRP variants, of which 45% of patients had dilated cardiomyopathy as part of the phenotype with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other variants.

Dilated cardiomyopathy was also reported as part of the LGMD phenotype in both OMIM (MIM #607155) and Gene2Phenotype.; to: As reviewed by Oliver Watkinson, the limb-girdle muscular dystrophy phenotype caused by biallelic FKRP variants includes dilated cardiomyopathy as part of the phenotype.

PMID:32914449 reviewed 56 patients with limb-girdle muscular dystrophy and biallelic FKRP variants, of which 45% of patients had dilated cardiomyopathy as part of the phenotype with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other variants.

There were also a number of cases reported with dilated cardiomyopathy being the presenting condition and preceding overt skeletal muscle disease as noted by Oliver Watkinson including the recent case that he has seen in hospital.

Dilated cardiomyopathy was also reported as part of the LGMD phenotype in both OMIM (MIM #607155) and Gene2Phenotype.
Dilated and arrhythmogenic cardiomyopathy v2.17 FKRP Achchuthan Shanmugasundram reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32914449; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v2.17 FKRP Oliver Watkinson reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32914449, 19705481, 18060779, 15833432; Phenotypes: Dilated cardiomyopathy, Limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v2.14 PPA2 Achchuthan Shanmugasundram Classified gene: PPA2 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v2.14 PPA2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Matthew Edwards, there is sufficient evidence for this gene to be promoted to green rating at the next GMS review.
Dilated and arrhythmogenic cardiomyopathy v2.14 PPA2 Achchuthan Shanmugasundram Gene: ppa2 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v2.13 PPA2 Achchuthan Shanmugasundram Phenotypes for gene: PPA2 were changed from Sudden cardiac failure, infantile; Sudden cardiac failure, alcohol-induced to Sudden cardiac failure, infantile, OMIM:617222; ?Sudden cardiac failure, alcohol-induced, OMIM:617223
Dilated and arrhythmogenic cardiomyopathy v2.12 PPA2 Achchuthan Shanmugasundram Publications for gene: PPA2 were set to PMID: 34400813
Dilated and arrhythmogenic cardiomyopathy v2.11 PPA2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PPA2.
Tag Q3_23_NHS_review tag was added to gene: PPA2.
Dilated and arrhythmogenic cardiomyopathy v2.11 PPA2 Achchuthan Shanmugasundram reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34400813; Phenotypes: Sudden cardiac failure, infantile, OMIM:617222, ?Sudden cardiac failure, alcohol-induced, OMIM:617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v2.11 TAB2 Arina Puzriakova Entity copied from Paediatric or syndromic cardiomyopathy v3.15
Dilated and arrhythmogenic cardiomyopathy v2.11 TAB2 Arina Puzriakova gene: TAB2 was added
gene: TAB2 was added to Dilated and arrhythmogenic cardiomyopathy. Sources: Expert Review Amber,NHS GMS,London South GLH
Q3_23_promote_green tags were added to gene: TAB2.
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TAB2 were set to 28464518; 29700987; 32183715; 34456334; 34990405; 34741306; 36000780; 37153890
Phenotypes for gene: TAB2 were set to Congenital heart defects, nonsyndromic, 2, OMIM:614980
Dilated and arrhythmogenic cardiomyopathy v2.10 PPA2 Matthew Edwards gene: PPA2 was added
gene: PPA2 was added to Dilated and arrhythmogenic cardiomyopathy. Sources: Expert Review
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to PMID: 34400813
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile; Sudden cardiac failure, alcohol-induced
Penetrance for gene: PPA2 were set to unknown
Review for gene: PPA2 was set to GREEN
gene: PPA2 was marked as current diagnostic
Added comment: Now a well established gene causing infantile sudden death, but can also manifest at a later age as alcohol-induced sudden death. Our lab and others have found several bi-allelic pathogenic variants in such SCD cases (see above ref). Is currently on syndromic/paediatric cardiomyopathy panel (R135) and mitochindrial panels, but wholly appropriate for this panel as well
Sources: Expert Review
Dilated and arrhythmogenic cardiomyopathy v2.10 RRAGC Arina Puzriakova Tag Q2_23_NHS_review was removed from gene: RRAGC.
Dilated and arrhythmogenic cardiomyopathy v2.10 RRAGC Arina Puzriakova Entity copied from Paediatric or syndromic cardiomyopathy v3.12
Dilated and arrhythmogenic cardiomyopathy v2.10 RRAGC Arina Puzriakova gene: RRAGC was added
gene: RRAGC was added to Dilated and arrhythmogenic cardiomyopathy. Sources: NHS GMS,Literature,Expert Review Amber
Q2_23_promote_green, Q2_23_NHS_review tags were added to gene: RRAGC.
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGC were set to 27234373; 37057673
Phenotypes for gene: RRAGC were set to Dilated cardiomyopathy, hepatopathy and brain abnormalities
Penetrance for gene: RRAGC were set to unknown
Dilated and arrhythmogenic cardiomyopathy v2.9 Arina Puzriakova Panel version 2.8 has been signed off on 2023-03-22
Dilated and arrhythmogenic cardiomyopathy v2.8 Arina Puzriakova Panel name changed from Dilated cardiomyopathy - adult and teen to Dilated and arrhythmogenic cardiomyopathy
List of related panels changed from R132 to Dilated cardiomyopathy - adult and teen; R132
Dilated and arrhythmogenic cardiomyopathy v2.7 RYR2 Arina Puzriakova Publications for gene: RYR2 were set to 20301310; 19926015; 17875969
Dilated and arrhythmogenic cardiomyopathy v2.6 LMNA Achchuthan Shanmugasundram Publications for gene: LMNA were set to 20186049; 27532257
Dilated and arrhythmogenic cardiomyopathy v2.5 DSP Achchuthan Shanmugasundram Publications for gene: DSP were set to 23500315; 27532257
Dilated and arrhythmogenic cardiomyopathy v2.4 TBX5 Arina Puzriakova Tag Q2_21_rating was removed from gene: TBX5.
Dilated and arrhythmogenic cardiomyopathy v2.4 SPEG Arina Puzriakova Tag Q2_21_rating was removed from gene: SPEG.
Dilated and arrhythmogenic cardiomyopathy v2.4 RPL3L Arina Puzriakova Tag Q2_21_rating was removed from gene: RPL3L.
Dilated and arrhythmogenic cardiomyopathy v2.4 NRAP Arina Puzriakova Tag Q2_21_rating was removed from gene: NRAP.
Dilated and arrhythmogenic cardiomyopathy v2.4 MYLK3 Arina Puzriakova Tag Q2_21_rating was removed from gene: MYLK3.
Dilated and arrhythmogenic cardiomyopathy v2.4 FLII Arina Puzriakova Tag Q2_21_rating was removed from gene: FLII.
Dilated and arrhythmogenic cardiomyopathy v2.4 RRAGD Arina Puzriakova Tag Q3_22_rating was removed from gene: RRAGD.
Dilated and arrhythmogenic cardiomyopathy v2.4 TBX5 Arina Puzriakova reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v2.4 SPEG Arina Puzriakova reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v2.4 RRAGD Arina Puzriakova reviewed gene: RRAGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v2.4 RPL3L Arina Puzriakova reviewed gene: RPL3L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v2.4 NRAP Arina Puzriakova reviewed gene: NRAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v2.4 MYLK3 Arina Puzriakova reviewed gene: MYLK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v2.4 FLII Arina Puzriakova reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v2.3 RRAGD Arina Puzriakova Source NHS GMS was added to RRAGD.
Dilated and arrhythmogenic cardiomyopathy v2.2 SCN5A Arina Puzriakova Publications for gene: SCN5A were set to 20186049; 27532257
Dilated and arrhythmogenic cardiomyopathy v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-11-30
Dilated and arrhythmogenic cardiomyopathy v2.0 Catherine Snow promoted panel to version 2.0
Dilated and arrhythmogenic cardiomyopathy v1.34 MYH7 Arina Puzriakova Added comment: Comment on mode of inheritance: Association with monoallelic variants is well-established. To date, only four families have been reported with recessive variants (PMIDs: 14659406; 25666907; 17372140; 31130376). Of these, one family developed dilated cardiomyopathy and one had hypertrophic cardiomyopathy, while cardiac function was normal in the remaining two families. Therefore, maintaining MOI of monoallelic only at this time but with a watchlist_moi tag to monitor for evidence linking biallelic variants linked to DCM.
Dilated and arrhythmogenic cardiomyopathy v1.34 MYH7 Arina Puzriakova Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v1.33 MYH7 Arina Puzriakova Tag watchlist_moi tag was added to gene: MYH7.
Dilated and arrhythmogenic cardiomyopathy v1.33 JUP Arina Puzriakova Phenotypes for gene: JUP were changed from Naxos disease (601214); Arrhythmogenic right ventricular dysplasia 12; Arrhythmogenic right ventricular dysplasia 12 (611528) to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Dilated and arrhythmogenic cardiomyopathy v1.32 DSP Arina Puzriakova Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic (609638); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821); Arrhythmogenic right ventricular dysplasia 8 (607450); Keratosis palmoplantaris striata II (612908); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676) to Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD); Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Dilated and arrhythmogenic cardiomyopathy v1.31 MYZAP Ivone Leong Phenotypes for gene: MYZAP were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
Dilated and arrhythmogenic cardiomyopathy v1.30 MYZAP Ivone Leong Added comment: Comment on mode of pathogenicity: Changed from "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments" to "Other". LOF does cause phenotype.
Dilated and arrhythmogenic cardiomyopathy v1.30 MYZAP Ivone Leong Mode of pathogenicity for gene: MYZAP was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other
Dilated and arrhythmogenic cardiomyopathy v1.29 MYZAP Ivone Leong Publications for gene: MYZAP were set to 34899865; doi:10.1101/mcs.a006221
Dilated and arrhythmogenic cardiomyopathy v1.28 RRAGD Eleanor Williams Tag Q3_22_NHS_review was removed from gene: RRAGD.
Dilated and arrhythmogenic cardiomyopathy v1.28 RRAGD Eleanor Williams Deleted their comment
Dilated and arrhythmogenic cardiomyopathy v1.28 RRAGD Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM or Gene2Phenotype.

As reviewer states PMID: 34607910 (Schlingmann et al 2021) reports 8 cases where patients with hypomagnesaemia were found to have heterozygous (mostly de novo) missense variants in RRAGD. 6 patients also had dilated cardiomyopathy. In addition they report a family with a heterozygous variant in RRAGD that segregated with a kidney phenotype in eight members. Abstract only accessed.; to: Not associated with a phenotype in OMIM or Gene2Phenotype.

As reviewer states PMID: 34607910 (Schlingmann et al 2021) reports 8 cases where patients with hypomagnesaemia were found to have heterozygous (mostly de novo) missense variants in RRAGD. 6 patients also had dilated cardiomyopathy. In addition they report a family with a heterozygous variant in RRAGD that segregated with a kidney phenotype in eight members.
Dilated and arrhythmogenic cardiomyopathy v1.28 RRAGD Eleanor Williams changed review comment from: Copied this gene from the Renal tubulopathies panel. In 6 cases reported in PMID: 34607910 (Schlingmann et al 2021) the probands also had dilated cardiomyopathy. Abstract only accessed.; to: Copied this gene from the Renal tubulopathies panel. In 6 cases reported in PMID: 34607910 (Schlingmann et al 2021) the probands also had dilated cardiomyopathy. The 6 patients with Dilated cardiomyopathy were diagnosed with the condition at ages between 6 months and 14 years old.
Dilated and arrhythmogenic cardiomyopathy v1.28 RRAGD Eleanor Williams commented on gene: RRAGD: Update on PMID: 34607910 (Schlingmann et al 2021) - the 6 patients with Dilated cardiomyopathy were diagnosed with the condition at ages between 6 months and 14 years old.
Dilated and arrhythmogenic cardiomyopathy v1.28 MYZAP Aleš Maver changed review comment from: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in three families altogether with recessive dilated cardiomyopathy (DCM) (PMID:34899865 and doi:10.1101/mcs.a006221). Altogether, 8 patients with DCM and biallelic LOF variants are reported in the three published families.
Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627).
Functional studies of the variant reported in 10.1101/mcs.a006221 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes.
Sources: Other; to: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in three families altogether with recessive dilated cardiomyopathy (DCM) (PMID:34899865 and PMID:35840178). Altogether, 8 patients with DCM and biallelic LOF variants are reported in the three published families.
Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627).
Functional studies of the variant reported in PMID:35840178 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes.
Sources: Other
Dilated and arrhythmogenic cardiomyopathy v1.28 MYZAP Aleš Maver changed review comment from: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in, altogether, three families (altogether 8 patients with DCM) with recessive dilated cardiomyopathy (DCM) (34899865;doi:10.1101/mcs.a006221).
Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627).
Functional studies of the variant reported in 10.1101/mcs.a006221 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes.
Sources: Other; to: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in three families altogether with recessive dilated cardiomyopathy (DCM) (PMID:34899865 and doi:10.1101/mcs.a006221). Altogether, 8 patients with DCM and biallelic LOF variants are reported in the three published families.
Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627).
Functional studies of the variant reported in 10.1101/mcs.a006221 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes.
Sources: Other
Dilated and arrhythmogenic cardiomyopathy v1.28 MYZAP Aleš Maver gene: MYZAP was added
gene: MYZAP was added to Dilated cardiomyopathy - adult and teen. Sources: Other
Mode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYZAP were set to 34899865; doi:10.1101/mcs.a006221
Phenotypes for gene: MYZAP were set to Dilated cardiomyopathy
Penetrance for gene: MYZAP were set to unknown
Mode of pathogenicity for gene: MYZAP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MYZAP was set to RED
Added comment: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in, altogether, three families (altogether 8 patients with DCM) with recessive dilated cardiomyopathy (DCM) (34899865;doi:10.1101/mcs.a006221).
Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627).
Functional studies of the variant reported in 10.1101/mcs.a006221 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes.
Sources: Other
Dilated and arrhythmogenic cardiomyopathy v1.28 NEXN Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876); Cardiomyopathy, dilated, 1CC to Cardiomyopathy, dilated, 1CC, OMIM:613122
Dilated and arrhythmogenic cardiomyopathy v1.27 RRAGD Eleanor Williams commented on gene: RRAGD: Copied this gene from the Renal tubulopathies panel. In 6 cases reported in PMID: 34607910 (Schlingmann et al 2021) the probands also had dilated cardiomyopathy. Abstract only accessed.
Dilated and arrhythmogenic cardiomyopathy v1.27 RRAGD Eleanor Williams Entity copied from Renal tubulopathies v2.62
Dilated and arrhythmogenic cardiomyopathy v1.27 RRAGD Eleanor Williams gene: RRAGD was added
gene: RRAGD was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Amber,Literature
Q3_22_rating, Q3_22_NHS_review tags were added to gene: RRAGD.
Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGD were set to 34607910
Phenotypes for gene: RRAGD were set to hypomagnesaemia; cardiomyopathy; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Penetrance for gene: RRAGD were set to Complete
Mode of pathogenicity for gene: RRAGD was set to Other
Dilated and arrhythmogenic cardiomyopathy v1.26 NRAP Arina Puzriakova Tag gene-checked tag was added to gene: NRAP.
Dilated and arrhythmogenic cardiomyopathy v1.26 MYLK3 Arina Puzriakova Tag gene-checked tag was added to gene: MYLK3.
Dilated and arrhythmogenic cardiomyopathy v1.26 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, OMIM:615184; Myopathy, myofibrillar, 2, OMIM:608810
Dilated and arrhythmogenic cardiomyopathy v1.25 SPEG Ivone Leong Entity copied from Cardiomyopathies - including childhood onset v1.42
Dilated and arrhythmogenic cardiomyopathy v1.25 SPEG Ivone Leong gene: SPEG was added
gene: SPEG was added to Dilated cardiomyopathy - adult and teen. Sources: Literature,Expert Review Amber
Q2_21_rating tags were added to gene: SPEG.
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 32925938; 33794647; 33926407
Phenotypes for gene: SPEG were set to Dilated cardiomyopathy, MONDO:0005021; Centronuclear myopathy 5, OMIM:615959
Dilated and arrhythmogenic cardiomyopathy v1.24 RHBDF1 Ivone Leong Classified gene: RHBDF1 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.24 RHBDF1 Ivone Leong Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.23 RHBDF1 Ivone Leong gene: RHBDF1 was added
gene: RHBDF1 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
watchlist tags were added to gene: RHBDF1.
Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHBDF1 were set to 32870709
Review for gene: RHBDF1 was set to AMBER
Added comment: This gene is rated Amber on the Cardiomyopathies - including childhood onset (Version 1.39) panel with the following reviews:

"Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Ivone Leong (Genomics England Curator), 20 Apr 2021"

"Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant. Sources: Literature
Zornitza Stark (Australian Genomics), 16 Apr 2021"
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v1.22 MYLK3 Ivone Leong Classified gene: MYLK3 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.22 MYLK3 Ivone Leong Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.21 MYLK3 Ivone Leong gene: MYLK3 was added
gene: MYLK3 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
Q2_21_rating tags were added to gene: MYLK3.
Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709; 30690923
Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy, MONDO:0005021
Review for gene: MYLK3 was set to GREEN
Added comment: This gene is also on the Cardiomyopathies - including childhood onset (Version 1.35) as an Amber gene with a recommendation of promoting to Green. This gene is not associated with a phenotype on OMIM or Gene2Phenotype.

PMID: 29235529 describes 2 families with heterozygous variant in this gene. Family A - 2 sibs diagnosed with DCM at 9 and 10 months of age and affected mother diagnosed with DCM at 40 yo. As the children had a more severe phenotype and earlier onset than the mother the authors did further analysis and found the sibs had an additional variant in FLNC, which is also linked to DCM. The authors suggest this additional variant could account for the more severe phenotype in the children.

Family B - 2 brothers diagnosed with DCM at 56 and 52 yo, both have a heterozygous frameshift variant in this gene. Mother and sister had died young and DCM diagnosis is inconclusive.

PMID: 30690923 describes another case. Proband has a heterozygous frameshift variant in this gene. Rest of the family have no cardiac phenotype and no variants in this gene except for one daughter. Daughter has the same variant and has dilation of LV and ST-T abnormalities but these do not meet the criteria for DCM.

PMID: 32870709 describes three consanguineous families with homozygous variants in this gene.

Review from Zornitza Stark:
"Rating: I don't know

Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: Literature
Created: 16 Apr 2021, 9:24 a.m."

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v1.20 NRAP Ivone Leong Publications for gene: NRAP were set to 30384889; 33534821; 28611399; https://doi.org/10.1101/2020.10.12.20211474
Dilated and arrhythmogenic cardiomyopathy v1.19 FLII Ivone Leong Classified gene: FLII as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.19 FLII Ivone Leong Gene: flii has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.18 FLII Ivone Leong gene: FLII was added
gene: FLII was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
Q2_21_rating tags were added to gene: FLII.
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 32870709
Phenotypes for gene: FLII were set to Dilated cardiomyopathy, MONDO:0005021
Review for gene: FLII was set to GREEN
Added comment: This gene is also on Cardiomyopathies - including childhood onset (Version 1.30).

"Two unrelated families reported with homozygous missense variants in PMID 32870709. Geng (2021): Shown to affect sarcomere size in Drosophila model. FliI knockdown resulted in disorganised myofibrils and increase filamentous actin. Campbell (2002): Hom mice - lethal, het - normal. K/O mouse model of related genes have cytoskeletal actin alterations. No survivors to observed cardiac phenotypes. We are aware of a third family ascertained through our laboratory. Sources: Literature
Zornitza Stark (Australian Genomics), 15 Apr 2021"

This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v1.17 RPL3L Ivone Leong Classified gene: RPL3L as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.17 RPL3L Ivone Leong Gene: rpl3l has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.16 RPL3L Ivone Leong gene: RPL3L was added
gene: RPL3L was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
Q2_21_rating tags were added to gene: RPL3L.
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021
Review for gene: RPL3L was set to GREEN
Added comment: This gene is also present on the Cardiomyopathies - including childhood onset (Version 1.26) panel.

Review by Zornitza Stark:
"PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype."

This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v1.15 NRAP Zornitza Stark reviewed gene: NRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33534821, 30384889, 28611399, 32870709; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v1.15 TBX5 Ivone Leong Classified gene: TBX5 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.15 TBX5 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-disease association. This gene should be rated Green at the next review.
Dilated and arrhythmogenic cardiomyopathy v1.15 TBX5 Ivone Leong Gene: tbx5 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.14 TBX5 Ivone Leong Tag Q2_21_rating tag was added to gene: TBX5.
Dilated and arrhythmogenic cardiomyopathy v1.14 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, 142900; Dilated cardiomyopathy to Holt-Oram syndrome, OMIM:142900; Dilated cardiomyopathy
Dilated and arrhythmogenic cardiomyopathy v1.13 RYR2 Matthew Edwards changed review comment from: On CGGL Royal Brompton DCM panel. Definitive ARVC/CPVT gene, appropriate for DCM panel due to possible phenotypic overlap. some evidence for exon 3 deletion specifically associated with DCM.; to: On CGGL Royal Brompton DCM panel. Definitive CPVT gene, appropriate for DCM panel due to possible phenotypic overlap as some evidence for exon 3 deletion specifically associated with DCM.
Dilated and arrhythmogenic cardiomyopathy v1.13 NRAP Ivone Leong Classified gene: NRAP as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.13 NRAP Ivone Leong Gene: nrap has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.12 NRAP Ivone Leong gene: NRAP was added
gene: NRAP was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
Q2_21_rating tags were added to gene: NRAP.
Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRAP were set to 30384889; 33534821; 28611399; https://doi.org/10.1101/2020.10.12.20211474
Phenotypes for gene: NRAP were set to Dilated cardiomyopathy, MONDO:0005021
Review for gene: NRAP was set to GREEN
Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene and having DCM.

https://doi.org/10.1101/2020.10.12.20211474 also describes a CRISPR knockout zebrafish which had a cardiac phenotype.

Therefore, there is enough evidence to support a gene-disease association and this gene is recommended to be promoted Green at the next panel review.
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v1.11 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from arrythmogenic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, myofibrillar, 5 to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
Dilated and arrhythmogenic cardiomyopathy v1.10 SLC6A6 Ivone Leong Classified gene: SLC6A6 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.10 SLC6A6 Ivone Leong Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.9 SLC6A6 Ivone Leong gene: SLC6A6 was added
gene: SLC6A6 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
watchlist tags were added to gene: SLC6A6.
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034; 17875433; 20804595
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype.

There are 3 unrelated cases with early retinal degeneration and only 2 cases had DCM (PMID: 31903486 and 29886034). The case described in PMID: 29886034 did not report any segregation results for the affected individual with DCM. The case described in 29886034, affected individuals were treated with taurine for 2 years and the cardiomyopathy was corrected.
The mouse model (PMID: 20804595) is a KO taurine transporter showed a cardiac.
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v1.8 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S (613426); Cardiomyopathy, dilated, 1S; Myopathy, myosin storage, autosomal recessive (255160); Scapuloperoneal syndrome, myopathic type (181430); Myopathy, myosin storage, autosomal dominant (608358); Cardiomyopathy, hypertrophic, 1 (192600); Left ventricular noncompaction 5 (613426); Laing distal myopathy (160500) to Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050
Dilated and arrhythmogenic cardiomyopathy v1.7 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Panel version has been signed off
Dilated and arrhythmogenic cardiomyopathy v1.6 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy to Holt-Oram syndrome, 142900; Dilated cardiomyopathy
Dilated and arrhythmogenic cardiomyopathy v1.5 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX5 were set to 32449309; 32236096; 25963046; 25725155
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy
Review for gene: TBX5 was set to GREEN
gene: TBX5 was marked as current diagnostic
Added comment: 8 individuals from 4 unrelated families reported in PMID 32449309, relatively mild skeletal manifestations of HOS and DCM a prominent feature in several. Note previous reports, and supportive mouse model.
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v1.5 Ivone Leong Panel version has been signed off
Dilated and arrhythmogenic cardiomyopathy v1.3 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Dilated and arrhythmogenic cardiomyopathy v1.3 Sarah Leigh Panel version has been signed off
Dilated and arrhythmogenic cardiomyopathy v1.1 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Dilated and arrhythmogenic cardiomyopathy v1.0 Ivone Leong promoted panel to version 1.0
Dilated and arrhythmogenic cardiomyopathy v0.63 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Dilated and arrhythmogenic cardiomyopathy v0.62 TNNI3K Ivone Leong Source Expert Review Green was added to TNNI3K.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 TNNC1 Ivone Leong Source Expert Review Green was added to TNNC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 RYR2 Ivone Leong Source Expert Review Green was added to RYR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 NEXN Ivone Leong Source Expert Review Green was added to NEXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 MYBPC3 Ivone Leong Source Expert Review Green was added to MYBPC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 EMD Ivone Leong Source Expert Review Green was added to EMD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 DOLK Ivone Leong Source Expert Review Green was added to DOLK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 CDH2 Ivone Leong Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 ACTN2 Ivone Leong Source Expert Review Green was added to ACTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.61 TNNI3K Kate Thomson reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 TNNC1 Kate Thomson reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 RYR2 Kate Thomson reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 NEXN Kate Thomson reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 MYBPC3 Kate Thomson reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 EMD Kate Thomson reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 DOLK Kate Thomson reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 CDH2 Kate Thomson reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 ACTN2 Kate Thomson reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.60 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel
Dilated and arrhythmogenic cardiomyopathy v0.59 FKTN Ivone Leong Publications for gene: FKTN were set to
Dilated and arrhythmogenic cardiomyopathy v0.58 FKRP Ivone Leong Mode of inheritance for gene: FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v0.57 TTN Ivone Leong Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.56 SCN5A Ivone Leong Mode of inheritance for gene: SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.55 MYH7 Ivone Leong Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.54 LMNA Ivone Leong Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.53 LAMP2 Ivone Leong Phenotypes for gene: LAMP2 were changed from Danon disease (OMIM: 300257) to Danon disease (300257)
Dilated and arrhythmogenic cardiomyopathy v0.52 GATA6 Ivone Leong reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 VCL Ivone Leong reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TTN Ivone Leong reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TPM1 Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TNNT2 Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TNNI3K Ivone Leong reviewed gene: TNNI3K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TNNI3 Ivone Leong reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TNNC1 Ivone Leong reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TMEM43 Ivone Leong commented on gene: TMEM43: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 TCAP Ivone Leong reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 TBX20 Ivone Leong reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 SGCD Ivone Leong reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 RYR2 Ivone Leong edited their review of gene: RYR2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Green to Amber. The group has agreed that this gene should be Amber on this panel. Testing should involve dosage analysis only in this gene.; Changed rating: AMBER
Dilated and arrhythmogenic cardiomyopathy v0.52 RBM20 Ivone Leong reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 PRDM16 Ivone Leong reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 PKP2 Ivone Leong commented on gene: PKP2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 NKX2-5 Ivone Leong reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 NEXN Ivone Leong reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 MYPN Ivone Leong reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 MYH7 Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 MYBPC3 Ivone Leong reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 LDB3 Ivone Leong reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 JUP Ivone Leong commented on gene: JUP: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 GATAD1 Ivone Leong reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 FKTN Ivone Leong reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 FKRP Ivone Leong reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 FHOD3 Ivone Leong reviewed gene: FHOD3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 EYA4 Ivone Leong reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 EMD Ivone Leong reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 DSP Ivone Leong commented on gene: DSP: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 DSG2 Ivone Leong commented on gene: DSG2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 DSC2 Ivone Leong commented on gene: DSC2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated and arrhythmogenic cardiomyopathy v0.52 DOLK Ivone Leong reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 DMD Ivone Leong reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 DES Ivone Leong edited their review of gene: DES: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Dilated and arrhythmogenic cardiomyopathy v0.52 CSRP3 Ivone Leong reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 CRYAB Ivone Leong reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 CDH2 Ivone Leong reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 BAG3 Ivone Leong reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ANKRD1 Ivone Leong reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.52 ABCC9 Ivone Leong reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.51 RYR2 Ivone Leong Source Expert Review Amber was added to RYR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 GATA6 Ivone Leong gene: GATA6 was added
gene: GATA6 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 EYA4 Ivone Leong Source Expert Review Red was added to EYA4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 ABCC9 Ivone Leong Source Expert Review Red was added to ABCC9.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 LAMP2 Ivone Leong Source Expert Review Green was added to LAMP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 FLNC Ivone Leong Source Expert Review Green was added to FLNC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 DMD Ivone Leong Source Expert Review Green was added to DMD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 BAG3 Ivone Leong Source Expert Review Green was added to BAG3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 ACTC1 Ivone Leong Source Expert Review Green was added to ACTC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.51 NKX2-5 Ivone Leong gene: NKX2-5 was added
gene: NKX2-5 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 EMD Ivone Leong gene: EMD was added
gene: EMD was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated and arrhythmogenic cardiomyopathy v0.51 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 TNNI3K Ivone Leong gene: TNNI3K was added
gene: TNNI3K was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 FKRP Ivone Leong gene: FKRP was added
gene: FKRP was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FKRP was set to
Dilated and arrhythmogenic cardiomyopathy v0.51 FHOD3 Ivone Leong gene: FHOD3 was added
gene: FHOD3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FHOD3 was set to
Dilated and arrhythmogenic cardiomyopathy v0.51 DOLK Ivone Leong gene: DOLK was added
gene: DOLK was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v0.51 CDH2 Ivone Leong gene: CDH2 was added
gene: CDH2 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 TBX20 Ivone Leong gene: TBX20 was added
gene: TBX20 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 PRDM16 Ivone Leong gene: PRDM16 was added
gene: PRDM16 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 MYPN Ivone Leong gene: MYPN was added
gene: MYPN was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v0.51 LDB3 Ivone Leong gene: LDB3 was added
gene: LDB3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 GATAD1 Ivone Leong gene: GATAD1 was added
gene: GATAD1 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GATAD1 was set to
Dilated and arrhythmogenic cardiomyopathy v0.51 CRYAB Ivone Leong gene: CRYAB was added
gene: CRYAB was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.51 ANKRD1 Ivone Leong gene: ANKRD1 was added
gene: ANKRD1 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.50 FKTN James Eden reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 19015585, 17036286, 27521547; Phenotypes: Cardiomyopathy, dilated, 1X 611615, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v0.50 LAMP2 Ellen McDonagh Classified gene: LAMP2 as Red List (low evidence)
Dilated and arrhythmogenic cardiomyopathy v0.50 LAMP2 Ellen McDonagh Gene: lamp2 has been classified as Red List (Low Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.49 FLNC Ellen McDonagh Classified gene: FLNC as Red List (low evidence)
Dilated and arrhythmogenic cardiomyopathy v0.49 FLNC Ellen McDonagh Gene: flnc has been classified as Red List (Low Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.48 DMD Ellen McDonagh Classified gene: DMD as Red List (low evidence)
Dilated and arrhythmogenic cardiomyopathy v0.48 DMD Ellen McDonagh Gene: dmd has been classified as Red List (Low Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.47 BAG3 Ellen McDonagh Classified gene: BAG3 as Red List (low evidence)
Dilated and arrhythmogenic cardiomyopathy v0.47 BAG3 Ellen McDonagh Gene: bag3 has been classified as Red List (Low Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.46 NEXN James Eden edited their review of gene: NEXN: Changed rating: AMBER
Dilated and arrhythmogenic cardiomyopathy v0.46 MYBPC3 James Eden Deleted their comment
Dilated and arrhythmogenic cardiomyopathy v0.46 MYBPC3 James Eden edited their review of gene: MYBPC3: Added comment: Gene currently tested on Manchester DCM panel. Currently no stated association with DCM on ClinGen Knowledge Base. Cardiodb.org/ACGV: excess of MYBPC3 in cases vs controls = 0.53% (p=0.2002).; Changed rating: RED
Dilated and arrhythmogenic cardiomyopathy v0.46 RYR2 James Eden Deleted their comment
Dilated and arrhythmogenic cardiomyopathy v0.46 RYR2 James Eden edited their review of gene: RYR2: Added comment: RYR2 is not currently tested in Manchester for DCM. RYR2 (whole gene) is associated with ARVD and CPVT on OMIM. Limited association of RYR2 variants with DCM. The RYR2 exon 3 deletion was reported in one article in 2 families with CPVT combined with additional features of dilated cardiomyopathy (https://www.ncbi.nlm.nih.gov/pubmed/17875969). This deletion is more commonly associated with LVNC cardiomyopathy in the literature (https://www.ncbi.nlm.nih.gov/pubmed/24394973, https://www.ncbi.nlm.nih.gov/pubmed/26018045).; Changed rating: AMBER; Changed publications: 17875969
Dilated and arrhythmogenic cardiomyopathy v0.46 RYR2 James Eden reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: None; Publications: 24394973, 26018045, 22374134, 16828071; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 600996, Ventricular tachycardia, catecholaminergic polymorphic, 1 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v0.46 DMD Ivone Leong Phenotypes for gene: DMD were changed from OMIM: 300376 Becker muscular dystrophy; 302045 Cardiomyopathy, dilated, 3B; 310200 Duchenne muscular dystrophy to Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200
Dilated and arrhythmogenic cardiomyopathy v0.45 BAG3 Ivone Leong Phenotypes for gene: BAG3 were changed from OMIM 613881: Cardiomyopathy, dilated, 1HH; 612954 Myopathy, myofibrillar, 6 to Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954
Dilated and arrhythmogenic cardiomyopathy v0.44 MYBPC3 James Eden reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1MM (615396), Cardiomyopathy, hypertrophic, 4 (115197), Left ventricular noncompaction 10 (615396); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 MYBPC3 James Eden Deleted their review
Dilated and arrhythmogenic cardiomyopathy v0.44 CSRP3 Matthew Edwards reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v0.44 ACTN2 Matthew Edwards reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v0.44 ABCC9 Matthew Edwards reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v0.44 NEXN Matthew Edwards changed review comment from: On CGGL Royal Brompton DCM panel currently. Only VUS reported to date (but quite a few) moderate evidence in literature - Animal model for DCM phenotype (zebrafish), and some limited segregation. (LOF likely disease mechanism); to: On CGGL Royal Brompton DCM panel currently. Only VUS reported to date (but quite a few) moderate evidence in literature - Animal model for DCM phenotype (zebrafish), and some limited segregation. (LOF likely disease mechanism). Keep as amber for now.
Dilated and arrhythmogenic cardiomyopathy v0.44 NEXN Matthew Edwards reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: None; Publications: 19881492; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 LAMP2 Matthew Edwards gene: LAMP2 was added
gene: LAMP2 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature,NHS GMS
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAMP2 were set to 21415759; 12084876
Phenotypes for gene: LAMP2 were set to Danon disease (OMIM: 300257)
Review for gene: LAMP2 was set to GREEN
gene: LAMP2 was marked as current diagnostic
Added comment: Gene on Royal Brompton diagnostic panel, metabolic glycogen storage disease, phenocopy for DCM/DCM part of clinical picture
Sources: Literature, NHS GMS
Dilated and arrhythmogenic cardiomyopathy v0.44 FLNC Matthew Edwards gene: FLNC was added
gene: FLNC was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Literature
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FLNC were set to 30067491; 28008423
Phenotypes for gene: FLNC were set to arrythmogenic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, myofibrillar, 5
Review for gene: FLNC was set to GREEN
gene: FLNC was marked as current diagnostic
Added comment: On Royal Brompton diagnostic panel, and pathogenic variants reported in phenotypes of arrythmogenic cardiomyopathy with fibrosis (LOF variants). Some good evidence of DCM association in literature. On basis of clinical overlap, this should be on DCM panels.
Sources: NHS GMS, Literature
Dilated and arrhythmogenic cardiomyopathy v0.44 DMD Matthew Edwards gene: DMD was added
gene: DMD was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Literature
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DMD were set to GeneReviews: Dystrophinopathies
Phenotypes for gene: DMD were set to OMIM: 300376 Becker muscular dystrophy; 302045 Cardiomyopathy, dilated, 3B; 310200 Duchenne muscular dystrophy
Review for gene: DMD was set to GREEN
gene: DMD was marked as current diagnostic
Added comment: On CGGL Royal Brompton DCM panel. Pathogenic variants detected in isolated DCM cases and BMD cases (wher DCM part of clinical picture)
Sources: NHS GMS, Literature
Dilated and arrhythmogenic cardiomyopathy v0.44 ACTC1 Matthew Edwards reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 VCL Matthew Edwards reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TTN Matthew Edwards reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25589632, 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TPM1 Matthew Edwards reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TNNT2 Matthew Edwards reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257, 20031601; Phenotypes: OMIM: 601494 Cardiomyopathy, dilated, 1D; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TNNI3 Matthew Edwards reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TMEM43 Matthew Edwards reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v0.44 DSC2 Matthew Edwards changed review comment from: On CGGL Royal Brompton DCm panel. Definitive ARVC gene, appropriate for DCM panel due to possible phenotypic overlap; to: On CGGL Royal Brompton DCM panel. Definitive ARVC gene, appropriate for DCM panel due to possible phenotypic overlap
Dilated and arrhythmogenic cardiomyopathy v0.44 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257, Wilde & Amin JACC: Clinical Electrophysiology Volume 4, Issue 5, May 2018; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 RBM20 Matthew Edwards reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: OMIM: 613172 Cardiomyopathy, dilated, 1DD; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 PLN Matthew Edwards reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: OMIM: 609909 Cardiomyopathy, dilated, 1P; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 PKP2 Matthew Edwards reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 MYH7 Matthew Edwards reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 LMNA Matthew Edwards reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: (GeneReviews: LMNA-Related Dilated Cardiomyopathy); Phenotypes: OMIM: 11520 Cardiomyopathy, dilated, 1A; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 JUP Matthew Edwards reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 DSP Matthew Edwards reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 DSG2 Matthew Edwards reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 DSC2 Matthew Edwards reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 BAG3 Matthew Edwards gene: BAG3 was added
gene: BAG3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAG3 were set to 30442290; 28737513; 28211974
Phenotypes for gene: BAG3 were set to OMIM 613881: Cardiomyopathy, dilated, 1HH; 612954 Myopathy, myofibrillar, 6
Review for gene: BAG3 was set to GREEN
gene: BAG3 was marked as current diagnostic
Added comment: On CGGL Royal Brompton DCM panel. Several pathogenic and likely pathogenic variants (incl CNVs) detected on diagnostic testing with some segregation data. Good evidence in literature.
Sources: NHS GMS
Dilated and arrhythmogenic cardiomyopathy v0.44 DES Matthew Edwards reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 19181099; Phenotypes: OMIM: 604765 Cardiomyopathy, dilated, 1I, OMIM: 601419 Myopathy, myofibrillar, 1; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 DES Matthew Edwards Deleted their review
Dilated and arrhythmogenic cardiomyopathy v0.44 DES Matthew Edwards reviewed gene: DES: Rating: ; Mode of pathogenicity: None; Publications: 19181099 (review); Phenotypes: OMIM: 604765 Cardiomyopathy, dilated, 1I, OMIM: 601419 Myopathy, myofibrillar, 1; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TTN Ivone Leong Publications for gene: TTN were set to 20186049; 27532257
Dilated and arrhythmogenic cardiomyopathy v0.43 TNNT2 Ivone Leong Publications for gene: TNNT2 were set to 20186049; 27532257
Dilated and arrhythmogenic cardiomyopathy v0.42 TNNI3 Ivone Leong Publications for gene: TNNI3 were set to 20186049; 27532257
Dilated and arrhythmogenic cardiomyopathy v0.41 RYR2 Ivone Leong Phenotypes for gene: RYR2 were changed from Arrhythmogenic right ventricular dysplasia 2 to Arrhythmogenic right ventricular dysplasia 2; Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Dilated and arrhythmogenic cardiomyopathy v0.40 RYR2 Ivone Leong Publications for gene: RYR2 were set to 20301310
Dilated and arrhythmogenic cardiomyopathy v0.39 Ivone Leong List of related panels changed from to R132
Dilated and arrhythmogenic cardiomyopathy v0.37 TMEM43 Ivone Leong reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 RYR2 Ivone Leong reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 PKP2 Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 JUP Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 DSP Ivone Leong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 DSG2 Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 DSC2 Ivone Leong reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.36 TMEM43 Ivone Leong gene: TMEM43 was added
gene: TMEM43 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM43 were set to 23812740; 27532257
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)
Dilated and arrhythmogenic cardiomyopathy v0.36 RYR2 Ivone Leong gene: RYR2 was added
gene: RYR2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RYR2 were set to 20301310
Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2
Dilated and arrhythmogenic cardiomyopathy v0.36 PKP2 Ivone Leong gene: PKP2 was added
gene: PKP2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKP2 were set to 23500315; 27532257
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular dysplasia 9 (609040)
Dilated and arrhythmogenic cardiomyopathy v0.36 JUP Ivone Leong gene: JUP was added
gene: JUP was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: JUP were set to 23500315; 27532257
Phenotypes for gene: JUP were set to Naxos disease (601214); Arrhythmogenic right ventricular dysplasia 12; Arrhythmogenic right ventricular dysplasia 12 (611528)
Dilated and arrhythmogenic cardiomyopathy v0.36 DSP Ivone Leong gene: DSP was added
gene: DSP was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSP were set to 23500315; 27532257
Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic (609638); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821); Arrhythmogenic right ventricular dysplasia 8 (607450); Keratosis palmoplantaris striata II (612908); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
Dilated and arrhythmogenic cardiomyopathy v0.36 DSG2 Ivone Leong gene: DSG2 was added
gene: DSG2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSG2 were set to 23500315; 27532257
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10; Arrhythmogenic right ventricular dysplasia 10 (610193); Cardiomyopathy, dilated, 1BB (612877)
Dilated and arrhythmogenic cardiomyopathy v0.36 DSC2 Ivone Leong gene: DSC2 was added
gene: DSC2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 23500315; 27532257
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476); Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 (610476)
Dilated and arrhythmogenic cardiomyopathy v0.35 DES Ivone Leong Classified gene: DES as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.35 DES Ivone Leong Added comment: Comment on list classification: DES is a green gene on the Arrhythmogenic cardiomyopathy (code: 134, version 1.25). It has been promoted from amber to green in this panel as the GMS Cardiology Specialist Group decided that all green genes that are present on the Arrhythmogenic cardiomyopathy panel should also be green on this panel because of the overlap in clinical presentation.
Dilated and arrhythmogenic cardiomyopathy v0.35 DES Ivone Leong Gene: des has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.31 PLN Ellen McDonagh Classified gene: PLN as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.31 PLN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.31 PLN Ellen McDonagh Gene: pln has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.30 VCL Ellen McDonagh Classified gene: VCL as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.30 VCL Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.30 VCL Ellen McDonagh Gene: vcl has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.29 TTN Ellen McDonagh Classified gene: TTN as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.29 TTN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.29 TTN Ellen McDonagh Gene: ttn has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.28 TPM1 Ellen McDonagh Classified gene: TPM1 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.28 TPM1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.28 TPM1 Ellen McDonagh Gene: tpm1 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.27 TPM1 Ellen McDonagh Classified gene: TPM1 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.27 TPM1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.27 TPM1 Ellen McDonagh Gene: tpm1 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.26 TNNT2 Ellen McDonagh Classified gene: TNNT2 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.26 TNNT2 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.26 TNNT2 Ellen McDonagh Gene: tnnt2 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.25 TNNI3 Ellen McDonagh Classified gene: TNNI3 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.25 TNNI3 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.25 TNNI3 Ellen McDonagh Gene: tnni3 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.24 SCN5A Ellen McDonagh Classified gene: SCN5A as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.24 SCN5A Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.24 SCN5A Ellen McDonagh Gene: scn5a has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.23 RBM20 Ellen McDonagh Classified gene: RBM20 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.23 RBM20 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.23 RBM20 Ellen McDonagh Gene: rbm20 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.22 TNNC1 Ellen McDonagh Classified gene: TNNC1 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.22 TNNC1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.22 TNNC1 Ellen McDonagh Gene: tnnc1 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.21 TCAP Ellen McDonagh Classified gene: TCAP as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.21 TCAP Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.21 TCAP Ellen McDonagh Gene: tcap has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.20 SGCD Ellen McDonagh Classified gene: SGCD as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.20 SGCD Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has Red/Amber reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.20 SGCD Ellen McDonagh Gene: sgcd has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.19 NEXN Ellen McDonagh Classified gene: NEXN as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.19 NEXN Ellen McDonagh Gene: nexn has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.18 NEXN Ellen McDonagh Classified gene: NEXN as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.18 NEXN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.18 NEXN Ellen McDonagh Gene: nexn has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.17 MYH7 Ellen McDonagh Classified gene: MYH7 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.17 MYH7 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.17 MYH7 Ellen McDonagh Gene: myh7 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.16 MYH6 Ellen McDonagh Classified gene: MYH6 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.16 MYH6 Ellen McDonagh Gene: myh6 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.15 MYH6 Ellen McDonagh Classified gene: MYH6 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.15 MYH6 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.15 MYH6 Ellen McDonagh Gene: myh6 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.14 MYBPC3 Ellen McDonagh Classified gene: MYBPC3 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.14 MYBPC3 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.14 MYBPC3 Ellen McDonagh Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.13 LMNA Ellen McDonagh Classified gene: LMNA as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.13 LMNA Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.13 LMNA Ellen McDonagh Gene: lmna has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Classified gene: FKTN as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.11 EYA4 Ellen McDonagh Classified gene: EYA4 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.11 EYA4 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.11 EYA4 Ellen McDonagh Gene: eya4 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.10 DES Ellen McDonagh Classified gene: DES as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.10 DES Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.10 DES Ellen McDonagh Gene: des has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.9 CSRP3 Ellen McDonagh Classified gene: CSRP3 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.9 CSRP3 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.9 CSRP3 Ellen McDonagh Gene: csrp3 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.8 ACTN2 Ellen McDonagh Classified gene: ACTN2 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.8 ACTN2 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.8 ACTN2 Ellen McDonagh Gene: actn2 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Classified gene: ACTC1 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Gene: actc1 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.6 ABCC9 Ellen McDonagh Classified gene: ABCC9 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.6 ABCC9 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.6 ABCC9 Ellen McDonagh Gene: abcc9 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.4 Ellen McDonagh Panel status changed from internal to public
Dilated and arrhythmogenic cardiomyopathy v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease
Dilated and arrhythmogenic cardiomyopathy v0.0 VCL Ellen McDonagh gene: VCL was added
gene: VCL was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCL were set to 20186049; 27532257
Phenotypes for gene: VCL were set to Cardiomyopathy, dilated, 1W; Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255)
Dilated and arrhythmogenic cardiomyopathy v0.0 TTN Ellen McDonagh gene: TTN was added
gene: TTN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TTN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TTN were set to 20186049; 27532257
Phenotypes for gene: TTN were set to Myopathy, proximal, with early respiratory muscle involvement (603689); Cardiomyopathy, familial hypertrophic, 9 (613765); Tibial muscular dystrophy, tardive (600334); Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807); Cardiomyopathy, dilated, 1G (604145); Salih myopathy (611705); Cardiomyopathy, dilated, 1G
Dilated and arrhythmogenic cardiomyopathy v0.0 TPM1 Ellen McDonagh gene: TPM1 was added
gene: TPM1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM1 were set to 20186049; 27532257
Phenotypes for gene: TPM1 were set to Cardiomyopathy, dilated, 1Y; Cardiomyopathy, dilated, 1Y (611878); Cardiomyopathy, hypertrophic, 3 (115196); Left ventricular noncompaction 9 ( 611878)
Dilated and arrhythmogenic cardiomyopathy v0.0 TNNT2 Ellen McDonagh gene: TNNT2 was added
gene: TNNT2 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNT2 were set to 20186049; 27532257
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3 (612422); Cardiomyopathy, hypertrophic, 2 (115195); Cardiomyopathy, dilated, 1D (601494); Left ventricular noncompaction 6 (601494)
Dilated and arrhythmogenic cardiomyopathy v0.0 TNNI3 Ellen McDonagh gene: TNNI3 was added
gene: TNNI3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TNNI3 were set to 20186049; 27532257
Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, dilated, 2A,; ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, familial restrictive, 1 (115210); Cardiomyopathy, dilated, 1FF; Cardiomyopathy, hypertrophic, 7 (613690)
Dilated and arrhythmogenic cardiomyopathy v0.0 TNNC1 Ellen McDonagh gene: TNNC1 was added
gene: TNNC1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNC1 were set to 20186049; 27532257
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, hypertrophic, 13 (613243); Cardiomyopathy, dilated, 1Z; Cardiomyopathy, dilated, 1Z (611879)
Dilated and arrhythmogenic cardiomyopathy v0.0 TCAP Ellen McDonagh gene: TCAP was added
gene: TCAP was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: TCAP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TCAP were set to 15582318; 20186049; 27532257
Phenotypes for gene: TCAP were set to Cardiomyopathy, hypertrophic, 25 (607487); Cardiomyopathy, dilated, 1N; Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Dilated and arrhythmogenic cardiomyopathy v0.0 SGCD Ellen McDonagh gene: SGCD was added
gene: SGCD was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: SGCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SGCD were set to 19259135; 20186049; 27532257
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287); Cardiomyopathy, dilated, 1L; Cardiomyopathy, dilated, 1L (606685)
Dilated and arrhythmogenic cardiomyopathy v0.0 SCN5A Ellen McDonagh gene: SCN5A was added
gene: SCN5A was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH
Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN5A were set to 20186049; 27532257
Phenotypes for gene: SCN5A were set to Cardiomyopathy, dilated, 1E
Dilated and arrhythmogenic cardiomyopathy v0.0 RBM20 Ellen McDonagh gene: RBM20 was added
gene: RBM20 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBM20 were set to 20186049; 27532257
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD; Cardiomyopathy, dilated, 1DD (613172)
Dilated and arrhythmogenic cardiomyopathy v0.0 PLN Ellen McDonagh gene: PLN was added
gene: PLN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLN were set to 20186049; 27532257
Phenotypes for gene: PLN were set to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, dilated, 1P; Cardiomyopathy, hypertrophic, 18 (613874)
Dilated and arrhythmogenic cardiomyopathy v0.0 NEXN Ellen McDonagh gene: NEXN was added
gene: NEXN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEXN were set to 19881492; 27532257
Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876); Cardiomyopathy, dilated, 1CC
Dilated and arrhythmogenic cardiomyopathy v0.0 MYH7 Ellen McDonagh gene: MYH7 was added
gene: MYH7 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH7 were set to 20186049; 27532257
Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S (613426); Cardiomyopathy, dilated, 1S; Myopathy, myosin storage, autosomal recessive (255160); Scapuloperoneal syndrome, myopathic type (181430); Myopathy, myosin storage, autosomal dominant (608358); Cardiomyopathy, hypertrophic, 1 (192600); Left ventricular noncompaction 5 (613426); Laing distal myopathy (160500)
Dilated and arrhythmogenic cardiomyopathy v0.0 MYH6 Ellen McDonagh gene: MYH6 was added
gene: MYH6 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH6 were set to 15998695; 27532257
Phenotypes for gene: MYH6 were set to Cardiomyopathy, hypertrophic, 14 (613251); Cardiomyopathy, dilated, 1EE (613252); {Sick sinus syndrome 3} (614090); Atrial septal defect 3 (614089); Cardiomyopathy, dilated, 1EE
Dilated and arrhythmogenic cardiomyopathy v0.0 MYBPC3 Ellen McDonagh gene: MYBPC3 was added
gene: MYBPC3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYBPC3 were set to 20186049; 27532257
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396); Cardiomyopathy, dilated, 1MM (615396)
Dilated and arrhythmogenic cardiomyopathy v0.0 LMNA Ellen McDonagh gene: LMNA was added
gene: LMNA was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 20186049; 27532257
Phenotypes for gene: LMNA were set to Muscular dystrophy, congenital (613205); Malouf syndrome (212112); Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Heart-hand syndrome, Slovenian type (610140); Hutchinson-Gilford progeria (176670); Cardiomyopathy, dilated, 1A (115200); Restrictive dermopathy, lethal (275210); Lipodystrophy, familial partial, type 2 (151660); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Charcot-Marie-Tooth disease, type 2B1 (605588); Mandibuloacral dysplasia (248370); Cardiomyopathy, dilated, 1A
Dilated and arrhythmogenic cardiomyopathy v0.0 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Dilated Cardiomyopathy, Recessive; Cardiomyopathy, dilated, 1X
Dilated and arrhythmogenic cardiomyopathy v0.0 EYA4 Ellen McDonagh gene: EYA4 was added
gene: EYA4 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EYA4 were set to 27532257; 15735644
Phenotypes for gene: EYA4 were set to ?Cardiomyopathy, dilated, 1J (605362); Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10 (601316)
Dilated and arrhythmogenic cardiomyopathy v0.0 DES Ellen McDonagh gene: DES was added
gene: DES was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DES were set to 20186049; 27532257
Phenotypes for gene: DES were set to Scapuloperoneal syndrome, neurogenic, Kaeser type (181400); Myopathy, myofibrillar, 1 (601419); Cardiomyopathy, dilated, 1I, (604765); Cardiomyopathy, dilated, 1I,
Dilated and arrhythmogenic cardiomyopathy v0.0 CSRP3 Ellen McDonagh gene: CSRP3 was added
gene: CSRP3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSRP3 were set to 18505755; 27532257
Phenotypes for gene: CSRP3 were set to ?Cardiomyopathy, dilated, 1M (607482); Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12 (612124)
Dilated and arrhythmogenic cardiomyopathy v0.0 ACTN2 Ellen McDonagh gene: ACTN2 was added
gene: ACTN2 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,South West GLH,UKGTN
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN2 were set to 25224718; 27532257; 26312134
Phenotypes for gene: ACTN2 were set to Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158); Cardiomyopathy, dilated, 1AA, with or without LVNC (612158); Dilated Cardiomyopathy, Dominant
Dilated and arrhythmogenic cardiomyopathy v0.0 ACTC1 Ellen McDonagh gene: ACTC1 was added
gene: ACTC1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 26061005; 27532257
Phenotypes for gene: ACTC1 were set to Cardiomyopathy, hypertrophic, 11 (612098); Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, dilated, 1R; Atrial septal defect 5 (612794)
Dilated and arrhythmogenic cardiomyopathy v0.0 ABCC9 Ellen McDonagh gene: ABCC9 was added
gene: ABCC9 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCC9 were set to 15034580; 27532257
Phenotypes for gene: ABCC9 were set to Cardiomyopathy, dilated, 1O (608569); Dilated Cardiomyopathy, Dominant; Cardiomyopathy, dilated, 1O; Atrial fibrillation, familial, 12 (614050)
Dilated and arrhythmogenic cardiomyopathy v0.0 Ellen McDonagh Added panel Dilated cardiomyopathy - adult and teen