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Dilated Cardiomyopathy and conduction defects v1.85 SCN1B Arina Puzriakova Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific ; Nonspecific Cardiac Conduction Defect to Cardiac conduction defect, nonspecific, OMIM:612838; Brugada syndrome 5, OMIM:612838; Atrial fibrillation, familial, 13, OMIM:615377
Dilated Cardiomyopathy and conduction defects v1.84 SCN1B Arina Puzriakova Mode of inheritance for gene: SCN1B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated Cardiomyopathy and conduction defects v1.83 PPP1R13L Arina Puzriakova Phenotypes for gene: PPP1R13L were changed from cardio-cutaneous syndrome; sudden cardiac death to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519; cardio-cutaneous syndrome; sudden cardiac death
Dilated Cardiomyopathy and conduction defects v1.82 RYR2 Arina Puzriakova Publications for gene: RYR2 were set to
Dilated Cardiomyopathy and conduction defects v1.81 PSEN1 Dmitrijs Rots reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance: None
Dilated Cardiomyopathy and conduction defects v1.81 PRDM16 Zornitza Stark reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411, 35862303, 32083975; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.81 MYH7 Arina Puzriakova changed review comment from: 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 HCM.; to: 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 Cardiomyopathy and conduction defects v1.81 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 HCM.
Dilated Cardiomyopathy and conduction defects v1.81 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 Cardiomyopathy and conduction defects v1.80 MYH7 Arina Puzriakova Tag watchlist_moi tag was added to gene: MYH7.
Dilated Cardiomyopathy and conduction defects v1.80 JUP Arina Puzriakova Phenotypes for gene: JUP were changed from to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Dilated Cardiomyopathy and conduction defects v1.79 DSP Arina Puzriakova Phenotypes for gene: DSP were changed from Dilated cardiomyopathy with woolly hair and keratoderma 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 Cardiomyopathy and conduction defects v1.78 NEXN Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy, hypertrophic, 20 (613876); Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, dilated, 1CC to Cardiomyopathy, dilated, 1CC, OMIM:613122
Dilated Cardiomyopathy and conduction defects v1.77 TAZ Arina Puzriakova commented on gene: TAZ
Dilated Cardiomyopathy and conduction defects v1.77 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Dilated Cardiomyopathy and conduction defects v1.77 LDB3 Ivone Leong Classified gene: LDB3 as Amber List (moderate evidence)
Dilated Cardiomyopathy and conduction defects v1.77 LDB3 Ivone Leong Added comment: Comment on list classification: Demoted from Green to Amber. This gene is associated with a phenotype in OMIM and Gene2Phenotype (requires clinical review). However, based on the expert reviews there is not enough evidence to support a gene-disease association. Therefore this gene has been given an Amber rating.
Dilated Cardiomyopathy and conduction defects v1.77 LDB3 Ivone Leong Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.76 LDB3 Ivone Leong Added comment: Comment on publications: Added new publications
Dilated Cardiomyopathy and conduction defects v1.76 LDB3 Ivone Leong Publications for gene: LDB3 were set to
Dilated Cardiomyopathy and conduction defects v1.75 LDB3 Matthew Edwards reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 4662268, PMID: 14660611, PMID: 16427346; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC (OMIM #601493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.75 RAB3GAP2 Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from 212720; 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Dilated Cardiomyopathy and conduction defects v1.74 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from syndromic DCM to Myotonic dystrophy 1, OMIM:160900
Dilated Cardiomyopathy and conduction defects v1.73 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Dilated Cardiomyopathy and conduction defects v1.73 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Dilated Cardiomyopathy and conduction defects v1.72 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Dilated Cardiomyopathy and conduction defects v1.72 CRYAB Arina Puzriakova Mode of inheritance for gene: CRYAB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated Cardiomyopathy and conduction defects v1.71 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from Cardiomyopathy, dilated, 1II, to Cardiomyopathy, dilated, 1II, OMIM:615184; Myopathy, myofibrillar, 2, OMIM:608810
Dilated Cardiomyopathy and conduction defects v1.70 SPEG Ivone Leong Classified gene: SPEG as Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.70 SPEG Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green as per my previous review.
Dilated Cardiomyopathy and conduction defects v1.70 SPEG Ivone Leong Gene: speg has been classified as Green List (High Evidence).
Dilated Cardiomyopathy and conduction defects v1.69 SPEG Ivone Leong Tag Q2_21_rating was removed from gene: SPEG.
Dilated Cardiomyopathy and conduction defects v1.69 SPEG Ivone Leong Entity copied from Cardiomyopathies - including childhood onset v1.42
Dilated Cardiomyopathy and conduction defects v1.69 SPEG Ivone Leong gene: SPEG was added
gene: SPEG was added to Dilated Cardiomyopathy and conduction defects. 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 Cardiomyopathy and conduction defects v1.68 RAB3GAP2 Ivone Leong Classified gene: RAB3GAP2 as Red List (low evidence)
Dilated Cardiomyopathy and conduction defects v1.68 RAB3GAP2 Ivone Leong Added comment: Comment on list classification: Demoted from Green to Red. There is no evidence to support this gene-disease association.
Dilated Cardiomyopathy and conduction defects v1.68 RAB3GAP2 Ivone Leong Gene: rab3gap2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy and conduction defects v1.67 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from 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 Cardiomyopathy and conduction defects v1.66 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Laing distal myopathy (160500); Myopathy, myosin storage, autosomal recessive (255160); Cardiomyopathy, hypertrophic, 1 (192600); Cardiomyopathy, dilated, 1S (613426); Cardiomyopathy, dilated, 1S ; Scapuloperoneal syndrome, myopathic type (181430) to Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262
Dilated Cardiomyopathy and conduction defects v1.65 RAB3GAP2 Dmitrijs Rots reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.65 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Dilated Cardiomyopathy and conduction defects v1.65 FKTN Ivone Leong Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy and conduction defects v1.65 FKTN Ivone Leong Added comment: Comment on list classification: Demoted from Green to Amber based on the expert reviews and also based on the gene rating on Dilated cardiomyopathy - adult and teen (version 1.0) which has been signed off by the GMS cardiology specialist group.
Dilated Cardiomyopathy and conduction defects v1.65 FKTN Ivone Leong Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.64 PRDM16 Ellen McDonagh Classified gene: PRDM16 as Amber List (moderate evidence)
Dilated Cardiomyopathy and conduction defects v1.64 PRDM16 Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber as not enough evidence at this stage to be Green.
Dilated Cardiomyopathy and conduction defects v1.64 PRDM16 Ellen McDonagh Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.63 PRDM16 Matthew Edwards reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: None; Publications: 24387996, 24387995; Phenotypes: Cardiomyopathy, LVNC; Mode of inheritance: None
Dilated Cardiomyopathy and conduction defects v1.63 TTN Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Dilated Cardiomyopathy and conduction defects v1.63 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 Cardiomyopathy and conduction defects v1.62 TCAP Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Dilated Cardiomyopathy and conduction defects v1.62 TCAP Ivone Leong Mode of inheritance for gene: TCAP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated Cardiomyopathy and conduction defects v1.61 SCN5A Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Dilated Cardiomyopathy and conduction defects v1.61 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 Cardiomyopathy and conduction defects v1.60 MYH7 Ivone Leong commented on gene: MYH7
Dilated Cardiomyopathy and conduction defects v1.60 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 Cardiomyopathy and conduction defects v1.59 LMNA Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Dilated Cardiomyopathy and conduction defects v1.59 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 Cardiomyopathy and conduction defects v1.58 DES Ivone Leong commented on gene: DES
Dilated Cardiomyopathy and conduction defects v1.58 DES Ivone Leong Mode of inheritance for gene: DES was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated Cardiomyopathy and conduction defects v1.55 FKTN Matthew Edwards reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: 17878207, 18177472, 18752264 , 19266496, 27065010; Phenotypes: Walker-Warburg syndrome (WWS), Fukuyama congenital muscular dystrophy, Cardiomyopathy, dilated, 1X; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.55 MYH6 Matthew Edwards reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.55 EYA4 Matthew Edwards reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated Cardiomyopathy and conduction defects v1.55 XK Rebecca Whittington commented on gene: XK: McLeod syndrome with or without chronic granulomatous disease OMIM#300842
Dilated Cardiomyopathy and conduction defects v1.55 TXNRD2 Rebecca Whittington commented on gene: TXNRD2: ?Glucocorticoid deficiency 5 OMIM#617825
Dilated Cardiomyopathy and conduction defects v1.55 TTR Rebecca Whittington commented on gene: TTR: Amyloidosis, hereditary, transthyretin-related OMIM#105210; Carpal tunnel syndrome, familial OMIM#115430;[Dystransthyretinemic hyperthyroxinemia] OMIM#145680
Dilated Cardiomyopathy and conduction defects v1.55 TMPO Rebecca Whittington commented on gene: TMPO: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 TMEM43 Rebecca Whittington commented on gene: TMEM43: Arrhythmogenic right ventricular dysplasia 5 OMIM#604400;Emery-Dreifuss muscular dystrophy 7, AD OMIM#614302
Dilated Cardiomyopathy and conduction defects v1.55 SYNE2 Rebecca Whittington commented on gene: SYNE2: Emery-Dreifuss muscular dystrophy 5, autosomal dominant OMIM#612999
Dilated Cardiomyopathy and conduction defects v1.55 SYNE1 Rebecca Whittington commented on gene: SYNE1: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM#612998; Spinocerebellar ataxia, autosomal recessive 8 OMIM#610743
Dilated Cardiomyopathy and conduction defects v1.55 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 OMIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1 OMIM#604772.
Dilated Cardiomyopathy and conduction defects v1.55 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Cardiomyopathy, hypertrophic 6 OMIM#600858; Glycogen storage disease of heart, lethal congenital OMIM#261740; Wolff-Parkinson-White syndrome OMIM#194200
Dilated Cardiomyopathy and conduction defects v1.55 PRDM16 Rebecca Whittington commented on gene: PRDM16: Cardiomyopathy, dilated, 1LL OMIM#615373; Left ventricular noncompaction 8 OMIM#615373
Dilated Cardiomyopathy and conduction defects v1.55 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 OMIM#609040
Dilated Cardiomyopathy and conduction defects v1.55 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 NEBL Rebecca Whittington commented on gene: NEBL: No phenotype on OMIM. DCM, HCM and LVNC in literature
Dilated Cardiomyopathy and conduction defects v1.55 MYL3 Rebecca Whittington commented on gene: MYL3: Cardiomyopathy, hypertrophic, 8 OMIM#608751
Dilated Cardiomyopathy and conduction defects v1.55 MYL2 Rebecca Whittington commented on gene: MYL2: Cardiomyopathy, hypertrophic, 10 OMIM#608758
Dilated Cardiomyopathy and conduction defects v1.55 LAMP2 Rebecca Whittington commented on gene: LAMP2: Danon disease OMIM#300257
Dilated Cardiomyopathy and conduction defects v1.55 LAMA4 Rebecca Whittington commented on gene: LAMA4: Cardiomyopathy, dilated, 1JJ OMIM#615235
Dilated Cardiomyopathy and conduction defects v1.55 JUP Rebecca Whittington commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 OMIM#611528; Naxos disease OMIM#601214
Dilated Cardiomyopathy and conduction defects v1.55 ILK Rebecca Whittington commented on gene: ILK: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 GLA Rebecca Whittington commented on gene: GLA: Fabry disease OMIM# 301500; Fabry disease, cardiac variant OMIM#301500
Dilated Cardiomyopathy and conduction defects v1.55 FLNC Rebecca Whittington commented on gene: FLNC: Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5 OMIM#617047; Myopathy, distal, 4 OMIM#614065; Myopathy, myofibrillar, 5 OMIM#609524
Dilated Cardiomyopathy and conduction defects v1.55 FHL2 Rebecca Whittington commented on gene: FHL2: Phenotype not listed on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 FHL1 Rebecca Whittington commented on gene: FHL1: ?Uruguay faciocardiomusculoskeletal syndrome OMIM#300280; Emery-Dreifuss muscular dystrophy 6, X-linked OMIM# 300696; Myopathy, X-linked, with postural muscle atrophy OMIM#300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset OMIM#300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset OMIM#300718; Scapuloperoneal myopathy, X-linked dominant OMIM#300695.
Dilated Cardiomyopathy and conduction defects v1.55 EMD Rebecca Whittington commented on gene: EMD: Emery-Dreifuss muscular dystrophy 1, OMIM#310300
Dilated Cardiomyopathy and conduction defects v1.55 DSG2 Rebecca Whittington commented on gene: DSG2: Arrhythmogenic right ventricular dysplasia 10, OMIM#610193; Cardiomyopathy, dilated, 1BB OMIM#612877
Dilated Cardiomyopathy and conduction defects v1.55 DSC2 Rebecca Whittington commented on gene: DSC2: Arrhythmogenic right ventricular dysplasia 11 OMIM#610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair OMIM#610476
Dilated Cardiomyopathy and conduction defects v1.55 DOLK Rebecca Whittington commented on gene: DOLK: Congenital disorder of glycosylation, type Im OMIM#610768
Dilated Cardiomyopathy and conduction defects v1.55 DNAJC19 Rebecca Whittington commented on gene: DNAJC19: 3-methylglutaconic aciduria, type V OMIM#610198
Dilated Cardiomyopathy and conduction defects v1.55 DMPK Rebecca Whittington commented on gene: DMPK: Myotonic dystrophy 1 OMIM#160900
Dilated Cardiomyopathy and conduction defects v1.55 CTF1 Rebecca Whittington commented on gene: CTF1: Phenotype not listed on OMIM. DCM
Dilated Cardiomyopathy and conduction defects v1.55 MYPN Rebecca Whittington commented on gene: MYPN: Cardiomyopathy, dilated, 1KK OMIM#615248; Cardiomyopathy, familial restrictive, 4 OMIM#615248; Cardiomyopathy, hypertrophic, 22 OMIM#615248; Nemaline myopathy 11, autosomal recessive OMIM#617336
Dilated Cardiomyopathy and conduction defects v1.55 CRYAB Rebecca Whittington commented on gene: CRYAB: OMIM#615184 Cardiomyopathy, dilated, 1II; OMIM# 613763 Cataract 16, multiple types; OMIM#608810 Myopathy, myofibrillar, 2; OMIM#613869 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
Dilated Cardiomyopathy and conduction defects v1.55 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Phenotype not listed on OMIM. DCM
Dilated Cardiomyopathy and conduction defects v1.55 VCL Rebecca Whittington commented on gene: VCL: Cardiomyopathy, dilated, 1W OMIM#611407; Cardiomyopathy, hypertrophic, 15 OMIM#613255
Dilated Cardiomyopathy and conduction defects v1.55 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, dilated, 1G OMIM#604145; Cardiomyopathy, familial hypertrophic, 9 OMIM#613765; Muscular dystrophy, limb-girdle, autosomal recessive 10 OMIM#608807; Myopathy, proximal, with early respiratory muscle involvement#603689; Salih myopathy OMIM#611705; Tibial muscular dystrophy, tardive OMIM#600334
Dilated Cardiomyopathy and conduction defects v1.55 TPM1 Rebecca Whittington commented on gene: TPM1: Cardiomyopathy, dilated, 1Y OMIM#611878; Cardiomyopathy, hypertrophic, 3 OMIM#115196; Left ventricular noncompaction 9 OMIM#611878
Dilated Cardiomyopathy and conduction defects v1.55 TNNT2 Rebecca Whittington commented on gene: TNNT2: Cardiomyopathy, dilated, 1D OMIM#601494; Cardiomyopathy, familial restrictive, 3 OMIM#612422; Cardiomyopathy, hypertrophic, 2 OMIM#115195; Left ventricular noncompaction 6 OMIM#601494
Dilated Cardiomyopathy and conduction defects v1.55 TNNI3 Rebecca Whittington commented on gene: TNNI3: ?Cardiomyopathy, dilated, 2A OMIM#611880; Cardiomyopathy, dilated, 1FF OMIM#613286; Cardiomyopathy, familial restrictive, 1 OMIM#115210;Cardiomyopathy, hypertrophic, 7 OMIM#613690
Dilated Cardiomyopathy and conduction defects v1.55 TNNC1 Rebecca Whittington commented on gene: TNNC1: Cardiomyopathy, dilated, 1Z OMIM#611879; Cardiomyopathy, hypertrophic, 13 OMIM#613243
Dilated Cardiomyopathy and conduction defects v1.55 TCAP Rebecca Whittington commented on gene: TCAP: Cardiomyopathy, hypertrophic, 25 OMIM#607487; Muscular dystrophy, limb-girdle, autosomal recessive 7 OMIM#601954
Dilated Cardiomyopathy and conduction defects v1.55 TAZ Rebecca Whittington commented on gene: TAZ: Barth syndrome OMIM#302060
Dilated Cardiomyopathy and conduction defects v1.55 SGCD Rebecca Whittington commented on gene: SGCD: Cardiomyopathy, dilated, 1L OMIM#606685; Muscular dystrophy, limb-girdle, autosomal recessive 6 OMIM#601287
Dilated Cardiomyopathy and conduction defects v1.55 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 OMIM#614022; Brugada syndrome 1 OMIM#601144; Cardiomyopathy, dilated, 1E OMIM#601154; Heart block, nonprogressive OMIM#113900; Heart block, progressive, type IA OMIM#113900; Long QT syndrome-3 OMIM#603830; Sick sinus syndrome 1 OMIM#608567; Ventricular fibrillation, familial, 1 OMIM#603829 {Sudden infant death syndrome, susceptibility to} OMIM#272120
Dilated Cardiomyopathy and conduction defects v1.55 RBM20 Rebecca Whittington commented on gene: RBM20: Cardiomyopathy, dilated, 1DD OMIM#613172
Dilated Cardiomyopathy and conduction defects v1.55 RAF1 Rebecca Whittington commented on gene: RAF1: Cardiomyopathy, dilated, 1NN OMIM#615916; LEOPARD syndrome 2 OMIM#611554; Noonan syndrome 5 OMIM#611553
Dilated Cardiomyopathy and conduction defects v1.55 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, dilated, 1P OMIM#609909; Cardiomyopathy, hypertrophic, 18 OMIM#613874
Dilated Cardiomyopathy and conduction defects v1.55 NEXN Rebecca Whittington commented on gene: NEXN: Cardiomyopathy, dilated, 1CC OMIM#613122; Cardiomyopathy, hypertrophic, 20 OMIM#613876
Dilated Cardiomyopathy and conduction defects v1.55 MYH7 Rebecca Whittington commented on gene: MYH7: Cardiomyopathy, dilated, 1S OMIM#613426; Cardiomyopathy, hypertrophic, 1 OMIM#192600; Laing distal myopathy OMIM#160500; Left ventricular noncompaction 5 OMIM#613426; Myopathy, myosin storage, autosomal dominant OMIM#608358; Myopathy, myosin storage, autosomal recessive OMIM#255160; Scapuloperoneal syndrome, myopathic type OMIM#181430.
Dilated Cardiomyopathy and conduction defects v1.55 MYH6 Rebecca Whittington commented on gene: MYH6: Atrial septal defect 3 OMIM#614089; Cardiomyopathy, dilated, 1EE OMIM#613252; Cardiomyopathy, hypertrophic, 14 OMIM#613251; {Sick sinus syndrome 3} OMIM#614090
Dilated Cardiomyopathy and conduction defects v1.55 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Cardiomyopathy, dilated, 1MM OMIM#615396; Cardiomyopathy, hypertrophic, 4 OMIM#115197; Left ventricular noncompaction 10 OMIM#615396
Dilated Cardiomyopathy and conduction defects v1.55 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A OMIM#115200; Charcot-Marie-Tooth disease, type 2B1 OMIM#605588; Emery-Dreifuss muscular dystrophy 2, autosomal dominant OMIM#181350; Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM#6165163; Heart-hand syndrome, Slovenian type 6OMIM#10140; Hutchinson-Gilford progeria OMIM#176670; Lipodystrophy, familial partial, type 2 OMIM#151660; Malouf syndrome OMIM#212112; Mandibuloacral dysplasia OMIM#248370; Muscular dystrophy, congenital OMIM#613205; Restrictive dermopathy, lethal OMIM#275210
Dilated Cardiomyopathy and conduction defects v1.55 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, dilated, 1C, with or without LVNC OMIM#601493; Cardiomyopathy, hypertrophic, 24 OMIM#601493; Left ventricular noncompaction 3 OMIM#601493; Myopathy, myofibrillar, 4 OMIM#609452.
Dilated Cardiomyopathy and conduction defects v1.55 HFE Rebecca Whittington commented on gene: HFE: Hemochromatosis OMIM:235200; {HFE hemochromatosis, modifier of} OMIM#235200
Dilated Cardiomyopathy and conduction defects v1.55 FKTN Rebecca Whittington commented on gene: FKTN: Cardiomyopathy, dilated, 1X OMIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, OMIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, OMIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, OMIM#611588.
Dilated Cardiomyopathy and conduction defects v1.55 EYA4 Rebecca Whittington commented on gene: EYA4: ?Cardiomyopathy, dilated, 1J OMIM#605362; Deafness, autosomal dominant 10 OMIM#601316
Dilated Cardiomyopathy and conduction defects v1.55 DSP Rebecca Whittington commented on gene: DSP: Arrhythmogenic right ventricular dysplasia 8 OMIM#607450; Cardiomyopathy, dilated, with woolly hair and keratoderma OMIM#605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis OMIM#615821; Epidermolysis bullosa, lethal acantholytic OMIM#609638; Keratosis palmoplantaris striata II OMIM#612908; Skin fragility-woolly hair syndrome OMIM#607655
Dilated Cardiomyopathy and conduction defects v1.55 DMD Rebecca Whittington commented on gene: DMD: Becker muscular dystrophy OMIM#300376;Cardiomyopathy, dilated, 3B OMIM#302045;Duchenne muscular dystrophy OMIM#310200
Dilated Cardiomyopathy and conduction defects v1.55 DES Rebecca Whittington commented on gene: DES: Cardiomyopathy, dilated, 1I OMIM# 604765;Myopathy, myofibrillar, 1 OMIM#601419; Scapuloperoneal syndrome, neurogenic, Kaeser type OMIM#181400
Dilated Cardiomyopathy and conduction defects v1.55 CSRP3 Rebecca Whittington commented on gene: CSRP3: OMIM#607482 ?Cardiomyopathy, dilated, 1M; OMIM#612124 Cardiomyopathy, hypertrophic, 12
Dilated Cardiomyopathy and conduction defects v1.55 BAG3 Rebecca Whittington commented on gene: BAG3: OMIM#613881: Cardiomyopathy, dilated, 1HH; OMIM#612954: Myopathy, myofibrillar, 6.
Dilated Cardiomyopathy and conduction defects v1.55 ACTN2 Rebecca Whittington commented on gene: ACTN2: OMIM#612158: Cardiomyopathy, dilated 1AA with or without LVNC and Cardiomyopathy, hypertrophic, 23, with or without LVNC
Dilated Cardiomyopathy and conduction defects v1.55 ACTC1 Rebecca Whittington commented on gene: ACTC1: OMIM#613424: Cardiomyopathy dilated 12; OMIM#612098 Cardiomyopathy, familial hypertrophy
Dilated Cardiomyopathy and conduction defects v1.55 ABCC9 Rebecca Whittington commented on gene: ABCC9: OMIM#608569: Cardiomyopathy, dilated 1O; OMIM#614050: Atrial Fibrillation 12 OMIM#239850:Cantu Syndrome
Dilated Cardiomyopathy and conduction defects v1.55 SGCB Rebecca Whittington commented on gene: SGCB: Muscular dystrophy, limb-girdle, autosomal recessive 4 OMIM#604286
Dilated Cardiomyopathy and conduction defects v1.55 SDHA Rebecca Whittington commented on gene: SDHA: Cardiomyopathy, dilated, 1GG OMIM#613642; Leigh syndrome OMIM256000; Mitochondrial respiratory chain complex II deficiency OMIM#252011;Paragangliomas 5 OMIM#614165
Dilated Cardiomyopathy and conduction defects v1.55 NPPA Rebecca Whittington commented on gene: NPPA: Atrial fibrillation, familial, 6 OMIM#612201; Atrial standstill 2 OMIM#615745
Dilated Cardiomyopathy and conduction defects v1.55 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Atrial septal defect 7, with or without AV conduction defects OMIM#108900; Conotruncal heart malformations, variable OMIM#217095; Hypoplastic left heart syndrome 2 OMIM#614435; Hypothyroidism, congenital nongoitrous, 5 OMIM#225250; Tetralogy of Fallot OMIM#187500; Ventricular septal defect 3 OMMIM 614432
Dilated Cardiomyopathy and conduction defects v1.55 MPO Rebecca Whittington commented on gene: MPO: Myeloperoxidase deficiency OMIM#254600 AR; {Alzheimer disease, susceptibility to} OMIM#104300;{Lung cancer, protection against, in smokers}
Dilated Cardiomyopathy and conduction defects v1.55 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: Phenotype not listed on OMIM.
Dilated Cardiomyopathy and conduction defects v1.55 ACTA1 Rebecca Whittington commented on gene: ACTA1: OMIM#612794 Atrial septal defect 5;OMIM#613424 Cardiomyopathy, dilated, 1R;OMIM#612098 Cardiomyopathy, hypertrophic, 11;OMIM#613424 Left ventricular noncompaction 4
Dilated Cardiomyopathy and conduction defects v1.55 SCN1B Rebecca Whittington commented on gene: SCN1B: Atrial fibrillation, familial, 13 OMIM#615377; Brugada syndrome 5 OMIM#612838; Cardiac conduction defect, nonspecific OMIM#612838; Epilepsy, generalized, with febrile seizures plus, type 1 OMIM#604233; Epileptic encephalopathy, early infantile, 52 OMIM#617350
Dilated Cardiomyopathy and conduction defects v1.55 PSEN2 Rebecca Whittington commented on gene: PSEN2: Alzheimer disease-4 OMIM#606889; Cardiomyopathy, dilated, 1V OMI#613697
Dilated Cardiomyopathy and conduction defects v1.55 PSEN1 Rebecca Whittington commented on gene: PSEN1: ?Acne inversa, familial, 3 OMIM#613737; Alzheimer disease, type 3 OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques OMIM# 607822; Cardiomyopathy, dilated, 1U OMIM#613694; Dementia, frontotemporal OMIM#600274; Pick disease OMIM#172700
Dilated Cardiomyopathy and conduction defects v1.55 GATAD1 Rebecca Whittington commented on gene: GATAD1: ?Cardiomyopathy, dilated, 2B OMIM#614672
Dilated Cardiomyopathy and conduction defects v1.55 TFR2 Rebecca Whittington commented on gene: TFR2: Hemochromatosis, type 3 OMIM#604250
Dilated Cardiomyopathy and conduction defects v1.55 SLC40A1 Rebecca Whittington commented on gene: SLC40A1: Hemochromatosis, type 4 OMIM#606069
Dilated Cardiomyopathy and conduction defects v1.55 RAB3GAP2 Rebecca Whittington commented on gene: RAB3GAP2: Martsolf syndrome OMIM#212720; Warburg micro syndrome 2 OMIM#614225
Dilated Cardiomyopathy and conduction defects v1.55 PPP1R13L Rebecca Whittington commented on gene: PPP1R13L: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 IDH2 Rebecca Whittington commented on gene: IDH2: D-2-hydroxyglutaric aciduria 2 OMIM:613657
Dilated Cardiomyopathy and conduction defects v1.55 HFE2 Rebecca Whittington commented on gene: HFE2: Hemochromatosis, type 2A OMIM# 602390
Dilated Cardiomyopathy and conduction defects v1.55 HAMP Rebecca Whittington commented on gene: HAMP: Hemochromatosis, type 2B OMIM:613313
Dilated Cardiomyopathy and conduction defects v1.55 EPG5 Rebecca Whittington commented on gene: EPG5: Vici syndrome OMIM#242840
Dilated Cardiomyopathy and conduction defects v1.54 XK Rebecca Whittington commented on gene: XK: https://omim.org/clinicalSynopsis/300842 - 60% of patients have DCM and AF. R Many pathogenic variants reported on HGMD. Appears that DCM may be a key feature but may not be a presenting feature
Dilated Cardiomyopathy and conduction defects v1.54 TXNRD2 Rebecca Whittington commented on gene: TXNRD2: Sibbing Eur Heart J.2011 May;32(9):1121-33. doi: 10.1093/eurheartj/ehq507. Epub 2011 Jan 18. ?Mouse model and three DCM patients with missense variants. HGMD 3 variants assoc with DCM, including Sibbing and Dal Ferro. some freq in GnomAD for these variants.
Dilated Cardiomyopathy and conduction defects v1.54 TTR Rebecca Whittington commented on gene: TTR: Usually more LVH asssociated with late onset amyeloidosis but in our patient the TTN variant may have modifying the phenotype. Many pathogenic variants detected and some specifically with cardiac features: Iorio et al (2017) Eur J Hum Genet 25:1055.
Dilated Cardiomyopathy and conduction defects v1.54 TMPO Rebecca Whittington commented on gene: TMPO: Taylor 2005 Hum Mutat 26(6), 566574, 2005.1 variant but high freq and adult onset.
Dilated Cardiomyopathy and conduction defects v1.54 TMEM43 Rebecca Whittington commented on gene: TMEM43: HGMD: five variants three ?DM through Walsh 2017 and 2 DM through Dal Ferro 2017. Not strong evidence
Dilated Cardiomyopathy and conduction defects v1.54 SYNE2 Rebecca Whittington commented on gene: SYNE2: The association with DCM is not strong. Banerjee :February 2014 | Volume 10 | Issue 2 | e1004114 - Mouse model and other evidence : Duong NT, Morris GE, Lam LT, Zhang Q, Sewry CA, et al. (2014) Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms. PLoS ONE 9(4):e94380. doi:10.1371/journal.pone.0094380.
Dilated Cardiomyopathy and conduction defects v1.54 SYNE1 Rebecca Whittington commented on gene: SYNE1: The association with DCM is not strong. Banerjee :February 2014 | Volume 10 | Issue 2 | e1004114 - Mouse model and other evidence : Duong NT, Morris GE, Lam LT, Zhang Q, Sewry CA, et al. (2014) Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms. PLoS ONE 9(4):e94380. doi:10.1371/journal.pone.0094380. 3 missense variants detected in SYNE1 assoc with DCM, functional studies undertaken but no family studies: Zhou Human Molecular Genetics, 2017, Vol. 26, No. 12.
Dilated Cardiomyopathy and conduction defects v1.54 RYR2 Rebecca Whittington commented on gene: RYR2: HGMD: 19 RYR2 variants assoc with DCM, only 3 classed as DM which are all truncating variants. Haas 2015 - two truncating variants one nonsense and one frameshift on HGMD - one classed as ?DM and other as DM. Dal Ferro 2017 - One frameshift variant classed as LP in DCM.
Dilated Cardiomyopathy and conduction defects v1.54 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Variants mainly assoc with HCM. HGMD: 3 variants assoc with DCM: 1 x Lu 2017 (Lu et al. J Transl Med (2018) 16:241) - VUS using ACMG. 2 x on LMM data(Walsh 2017) one has probably too high freq and also reported in LVNC, other variant no freq.
Dilated Cardiomyopathy and conduction defects v1.54 PRDM16 Rebecca Whittington commented on gene: PRDM16: HGMD - DCM, LVNC and sudden death. Only 7 /21 variants classed as DM on HGMD, rare cause? 5 truncating variants on HGMD assoc with DCM or LVNC eg Meng (2017) ( JAMA Pediatr 171: 173438 PubMed: 28973083) de novo nonsense in a child in intensive care not clear if patient has DCM. Arndt (2013) Am J Hum Genet 93, 67) Seven variants detected four have freq, the two truncating variants look like they are pathogenic along with one missense but all are assoc with LVNC rather than DCM. This evidence was refuted by de Leeuw (2014) Am J Hum Genet 94: 153 PubMed: 24387995.
Dilated Cardiomyopathy and conduction defects v1.54 PKP2 Rebecca Whittington commented on gene: PKP2: HGMD: 8 variants assoc with DCM all ?DM, 6 reported by Walsh, 1 x Dal Ferro and 1 x Elliot 2010: This variant p.Ser140Phe was detected in three unrelated DCM patients. No family studies.
Dilated Cardiomyopathy and conduction defects v1.54 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: Possibly associated with DCM but not alot of literature evidence: Pashmforoush M et al (2001). Adult mice deficient in actin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy. Nat Med 7(5):591-7. HGMD - 2 truncating variants detected with DCM, Haas 2015 - listed as a candidate variant with no other evidence and Arola 2017 ( Arola (2007) Mol Genet Metab 90, 435): 1 patient with a frameshift variant - patient presented in pregnancy and died a year later, mother may have had AVB but no family studies reported - this variant has 9 alleles listed on GnomAD.
Dilated Cardiomyopathy and conduction defects v1.54 NEBL Rebecca Whittington commented on gene: NEBL: Literature: Purevjav J Am Coll Cardiol. 2010 October 26; 56(18): 14931502 - a number of variants assoc with DCM and mouse models but high frequency in GnomAD. Perrot 2016: Arch Med Sci 2016; 12, 2: 263278, six variants reported and expanded phenotype to HCM and LVNC. Three have frequencies higher than expected for disease causing variant. HGMD: Nine variants assoc DCM, only 3 classed as DM - two of these have high freq and we have down graded to LB. No segregation as far as I can see.
Dilated Cardiomyopathy and conduction defects v1.54 MYL3 Rebecca Whittington commented on gene: MYL3: 26 variants listed as DM on HGMD, 1 assoc with DCM: Zhao 2015 Int J Mol Med. 2015 Dec;36(6):1479-86. doi: 10.3892/ijmm.2015.2361 - 1 variant assoc with DCM no freq but weak BI. Epub 2015 Oct 7.
Dilated Cardiomyopathy and conduction defects v1.54 MYL2 Rebecca Whittington commented on gene: MYL2: 48 DM variants listed on HGMD -including in Walsh 2017. Also Alfares (2015) Genet Med 17: 880 PubMed: 25611685. Mainly HCM. 2x DCM reported from Walsh as VUS.GOOGLE: Huang 2015 (FEBS J. 2015 June ; 282(12): 23792393. doi:10.1111/febs.13286.) identified a variant tracking with DCM in 3 family members and functional studies support pathogenicity, no freq on GnomAD and a follow up paper by Yang PNAS March 6, 2018 115 (10) E2338-E2347 undertook functional studies of this variant in mice. Weterman 2013 Brain 2013: 136; 282293- suggest a homozygous MYL2 was found tracking with disease with muscle fibre disease and DCM - also an Italian patient with similar features was compound het for variants in this gene. Summary: Not so much evidence in HGMD but google - 1 paper with a variant tracking with disease with functional studies and a follow up paper with a mouse model. then some evidence of AR muscle and DCM phenotype in two papers.
Dilated Cardiomyopathy and conduction defects v1.54 LAMP2 Rebecca Whittington commented on gene: LAMP2: 90 DM variants on HGMD, some with DCM and HCM: Including in Walsh by Oxford lab - pathogenic truncating variant. DCM: 5 variants, 2 deemed DM. 1 in a patient with DCM no other genetic cause - two unaffected children do not have the variant Kyaw 2018. 1 CNV call as pathogenic. Note: DCM is part of the clinical synopsis: https://omim.org/clinicalSynopsis/300257
Dilated Cardiomyopathy and conduction defects v1.54 LAMA4 Rebecca Whittington commented on gene: LAMA4: HGMD: 11 variants assoc with DCM on HGMD only 3 classed as pathogenic - two in Knoll 2007, both have some functional studies. Six variants from Walsh 2017 as VUS. 1 from Marston 2015 assoc with DCM but no further info.
Dilated Cardiomyopathy and conduction defects v1.54 JUP Rebecca Whittington commented on gene: JUP: PubMED: 29567486 - core gene. Five variants assoc with DCM on HGMD they all have some freq - though 4 are <4 alleles on GnomAD, references include Walsh 2017 and Haas 2015 . Lots of evidence on HGMDPro for ARVC.
Dilated Cardiomyopathy and conduction defects v1.54 ILK Rebecca Whittington commented on gene: ILK: HGMD: 2 DM variants in this gene (1 x DCM and 1 x HCM) and 5 associated with DCM overall - 1 x DCM Knoll 2007 - some functional studies to support pathogenicity [1 xHCM. Bottillo (2016) Gene 577: 227 PubMed: 26656175]. Dalin 2017 reports four missense variants assoc with DCM (3 by Haas 2015 as VUS - one also reported in Knoll - has no GnomAD freq). One patient had a previously reported MYBPC3 variant and one had a TTN frameshift variant.
Dilated Cardiomyopathy and conduction defects v1.54 GLA Rebecca Whittington commented on gene: GLA: HCM phenocopy
Dilated Cardiomyopathy and conduction defects v1.54 FLNC Rebecca Whittington commented on gene: FLNC: Literature: Begay 2016 2 Italian families with segregation of the same splice variant and a US family with a different splice variant segregating with disease. Western blotting supported evidence of pathogenicity.
Dilated Cardiomyopathy and conduction defects v1.54 FHL2 Rebecca Whittington commented on gene: FHL2: HGMD Only two variants assoc with DCM - both know freq but classed as 3 in Walsh 2017 and Dal Ferro 2017. Also only 2 DM variants assoc with HCM - but some functional studies show downregulation of this gene in HCM: Friedrich (2014) Basic Res Cardiol 109: 451 PubMed: 25358972 FHL2 expression and variants in hypertrophic cardiomyopathy.
Dilated Cardiomyopathy and conduction defects v1.54 FHL1 Rebecca Whittington commented on gene: FHL1: Core HCM gene
Dilated Cardiomyopathy and conduction defects v1.54 EMD Rebecca Whittington commented on gene: EMD: Missense variants in this gene have been detected in patients with DCM, cardiac conduction defects (including heart block) and later onset muscular dystrophy (Ellis et al, 1999) or DCM alone. Mook et al, 2013 - 1 variant VUS Mook ORF, et al. J Med Genet 2013;50:614626. doi:10.1136/jmedgenet-2012-101231. Cuenca et al, 2016 describes a founder EMD mutation in 13 unrelated families with DCM in Teneriefe, the variant has no pop freq on GnomAD. Usually assoc with Emery muscular dystrophy. HGMD: all DM entries assoc with EMD.
Dilated Cardiomyopathy and conduction defects v1.54 DSG2 Rebecca Whittington commented on gene: DSG2: HGMD: 2 variants classed DM with DCM: Garcia-Pavia (2011) Heart 97: 1744 - Four variants in patients with DCM only one classed as pathogenic as frameshift. Walsh 2017 (Walsh (2017) Genet Med 19: 192) - 1 variant VUS -4 which was classed as pathogenic by Elliot 2010 ( Elliott (2010) Circ Cardiovasc Genet 3: 314 ) and NG 2013 (Ng (2013) Circ Cardiovasc Genet 6: 337) but has a freq of 0.0079%. No family studies but two variants identified in patients with a second variant and FH.
Dilated Cardiomyopathy and conduction defects v1.54 DSC2 Rebecca Whittington commented on gene: DSC2: Literature: Dal Ferro 2017 - 1 LP vairant assoc with DCM. Some suggestion that can be associated with DCM but not strong.Though ARVC may present in LV or biventricular and may appear to be DCM. HGMD: only 9 DSC2 variants assoc with DCM in HGMD and only 2 deemed DM, neither has freq on GnomAD.
Dilated Cardiomyopathy and conduction defects v1.54 DOLK Rebecca Whittington commented on gene: DOLK: AR DCM is a key feature from birth:he second family reported by Kranz et al. (2007) included 2 affected sibs born of consanguineous Turkish parents. In the first sib, ichthyosis congenita with inflammation of the skin was present at birth. At age 5 months, progressive hair loss was nearly complete, with sparse eyelashes and eyebrows. Dilated cardiomyopathy was present from birth and persisted throughout life. Severe muscular hypotonia was present and death occurred at home at age 7 months, most likely from aspiration. A sister showed muscular hypotonia at birth, and progressive dilated cardiomyopathy developed shortly after birth. Lefeber et al (2011) PlosGenet 7(12):e1002427.Infantile to late childhood onset. But teens can be affected - see Lefeber 2011 - case series which segregates with disease - 1 teenage and other cases 9/10 year olds. One case in the lab of a teenager with DCM and two variants in this gene.
Dilated Cardiomyopathy and conduction defects v1.54 DNAJC19 Rebecca Whittington commented on gene: DNAJC19: Seems rare but in HGMD all variants DCM and truncating and in AR DCM: Ucar (2017) JIMD Rep 35: 39 PubMed: 27928778 . May be a rare candiate gene but paediatric onset
Dilated Cardiomyopathy and conduction defects v1.54 DMPK Rebecca Whittington commented on gene: DMPK: Myotonic dystrophy gene - a few variants found in the lab but main cause of disease is expansion. HGMD - no variant listed with cardiomyopathy
Dilated Cardiomyopathy and conduction defects v1.54 CTF1 Rebecca Whittington commented on gene: CTF1: Only one DM report on HGMD: Erdmann (2000) Hum Mutat 16: 448 PubMed: 11058912 with DCM.
Dilated Cardiomyopathy and conduction defects v1.54 MYPN Rebecca Whittington commented on gene: MYPN: Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171 - variant where func studies undertaken and seen in HCM and DCM has 294 alleles on Gnomad so suggest this is not a pathogenic variant. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. Haas 2015 Four variants listed assoc with DCM but three have quite high freq and the fourth is a nonsense with no freq. Summary: Quite a number of variants reported associated with DCM, just from two studies only 1/5 variants has no freq the other may be too high to be disease causing. Note in Purevjav struggling to tie up c. and p. nomenclature in Alamut in NM_032578.2 as quoted in paper.
Dilated Cardiomyopathy and conduction defects v1.54 CRYAB Rebecca Whittington commented on gene: CRYAB: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy.
Dilated Cardiomyopathy and conduction defects v1.54 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 8. HGMD: 9 DM entries with DCM or HCM (1 with a CHD phenotype). Literature from HGMD: Dalin 2017: missense variants assoc with DCM. 3 variants listed assoc with DCM + a nonsense variant - 2 have ExAC data of 0.04 and 0.02% so may be too high freq. 11 variants listed in this paper in another table all but three have freq data >0.01%. Duboscq-Bidot 2009 - Five DCM families some segregation - probably only 2 informative segregations across five families but minimal data. Functional studies suggest pathogenicity. Moulik 2009 J Am Coll Cardiol. 2009 July 21; 54(4): 325333. 3 vairants in four DCM patients but two have reasonably high freq, no segregation but functional studies - suggest 1.9% of DCM cases and Duboscq-Bidot suggest 2% DCM cases. Not much more recently apart from Dalin where possibly 3 candidate variants
Dilated Cardiomyopathy and conduction defects v1.54 VCL Rebecca Whittington commented on gene: VCL: HGMD: 6/17 variants assoc with DCM listed as DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TTN Rebecca Whittington commented on gene: TTN: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 25% of DCM patients) and Pugh (2014) Genet Med 16, 601. Also refer to Roberts (2015) Sci Transl Med 7: 270ra6.
Dilated Cardiomyopathy and conduction defects v1.54 TPM1 Rebecca Whittington commented on gene: TPM1: GMD: 10/27 variants assoc with DCM classed as DM with some functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TNNT2 Rebecca Whittington commented on gene: TNNT2: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 3% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TNNI3 Rebecca Whittington commented on gene: TNNI3: HGMD: 8/14 variants assoc with DCM are DM. Including functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - variants only detected in paediatric cases.
Dilated Cardiomyopathy and conduction defects v1.54 TNNC1 Rebecca Whittington commented on gene: TNNC1: HGMD: 6/11 variants assoc with DCM classed as DM, including the variant in our family. A number of these variants have functional studies. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531 and Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants detected).
Dilated Cardiomyopathy and conduction defects v1.54 TCAP Rebecca Whittington commented on gene: TCAP: HGMD: 8 variants assoc with DCM, all but three are ?DM. Hirtle-Lewis Clin. Cardiol. 36, 10, 628633 (2013) found two clinically significant variants with DCM. Walsh 2017 - two DCM patients with same TCAP variants. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531
Dilated Cardiomyopathy and conduction defects v1.54 TAZ Rebecca Whittington commented on gene: TAZ: Paediatric onset disease. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 SGCD Rebecca Whittington commented on gene: SGCD: HGMD: 6 variants all but one ?DM, though a number listed in Walsh through LMM and classified as LP. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants though), Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 SCN5A Rebecca Whittington commented on gene: SCN5A: HGMD: Variant in our family reported 12 times to HGMD, with LQT and Brugada as well as DCM. 22 variants assoc with DCM reported to HGMD - 11 ?DM rest DM. Many with multiple literature evidence. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quotes 2-3% of DCM cases have an SCN5A variant) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 RBM20 Rebecca Whittington commented on gene: RBM20: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 - mainly in paediatric cases. Also see Wells Circ Cardiovasc Genet. 2013 August ; 6(4): 317326 and Refaat Heart Rhythm. 2012 March ; 9(3): 390396.
Dilated Cardiomyopathy and conduction defects v1.54 RAF1 Rebecca Whittington commented on gene: RAF1: May be a rare DCM gene. Pandit et al (2007) Nat Genet 39(8):1007. Dhandapandy et al (2014) Nat Genet 46(6): 635. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361. Is a rasopathy gene also.
Dilated Cardiomyopathy and conduction defects v1.54 PLN Rebecca Whittington commented on gene: PLN: HGMD: 9 variants assoc with DCM but note appears to overlap of some variants with HCM, 2 x ?DM. All but one variant have multiple literature associated which is quite recent such as Walsh 2017 and Alfares 2015. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601. - Note not many variants in these three studies.
Dilated Cardiomyopathy and conduction defects v1.54 NEXN Rebecca Whittington commented on gene: NEXN: HGMD: 31 variants assoc with DCM only 10 DM. BGL: 17 class 3s in cardiomyopathy patients. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531
Dilated Cardiomyopathy and conduction defects v1.54 MYH7 Rebecca Whittington commented on gene: MYH7: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 MYH6 Rebecca Whittington commented on gene: MYH6: HGMD: 31 variants assoc with DCM only 10 DM. BGL: 17 class 3s in cardiomyopathy patients. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients).
Dilated Cardiomyopathy and conduction defects v1.54 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 (no clearly LP or pathogenic variants).
Dilated Cardiomyopathy and conduction defects v1.54 LMNA Rebecca Whittington commented on gene: LMNA: Core gene . Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 6% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 LDB3 Rebecca Whittington commented on gene: LDB3: HGMD: Four variants assoc with DCM - only one DM. Haas 2015 lists 2 as VUS. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 HFE Rebecca Whittington commented on gene: HFE: Adult onset haemochromatosis.
Dilated Cardiomyopathy and conduction defects v1.54 FKTN Rebecca Whittington commented on gene: FKTN: HGMD: 4 variants 3 x DM but older literature.
Dilated Cardiomyopathy and conduction defects v1.54 EYA4 Rebecca Whittington commented on gene: EYA4: HGMD: 1 x variant assoc with DCM and deafness: Schonberger (2005) Nat Genet 37, 418. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 DSP Rebecca Whittington commented on gene: DSP: HGMD: 52 variants assoc with DCM on HGMD. Many classed as ?DM (many from Walsh 2017). Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 DMD Rebecca Whittington commented on gene: DMD: HGMD: 40 variants listed including CNVs. Only 8 classed as VUS and all missense. 1 x nonsense Pathogenic: Cuenca (2016) J Heart Lung Transplant 35: 625. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531. Review: Nakamura Pharmaceuticals 2015, 8, 303-320; doi:10.3390/ph8020303
Dilated Cardiomyopathy and conduction defects v1.54 DES Rebecca Whittington commented on gene: DES: HGMD: 24 variants assoc DCM - 12 DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 CSRP3 Rebecca Whittington commented on gene: CSRP3: 7 variants on HGMD only two DM. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 - no variants detected, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 BAG3 Rebecca Whittington commented on gene: BAG3: Core gene. HGMD 40 variants listed with DCM only 2 VUS. Many truncating variants.In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 ACTN2 Rebecca Whittington commented on gene: ACTN2: 11 variants on HGMD assoc with DCM - 5 classed as DM in a number of literature reviews. Note Walsh 2017 classes all variants found in their cohort as VUS. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.
Dilated Cardiomyopathy and conduction defects v1.54 ACTC1 Rebecca Whittington commented on gene: ACTC1: Reported by Augire et al (2015) PLoS ONE 10(6):e0127903 tracking in six family members with ASD but some DCM also. 12 variants on HGMD - 7 classed as DM in a number of literature reviews including Dal Ferro 2017. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.
Dilated Cardiomyopathy and conduction defects v1.54 ABCC9 Rebecca Whittington commented on gene: ABCC9: 2 variants in 2004 paper (Bienengraeber M Nat Genet. 2004 Apr;36(4):382-7. Epub 2004 Mar 21.). 10 variants on HGMD assoc with DCM - only one from the Bienengraeber paper classed as DM but one nonsense classed as LP in Walsh by LMM group. Included in review of DCM genes -Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601)
Dilated Cardiomyopathy and conduction defects v1.54 SGCB Rebecca Whittington commented on gene: SGCB: Listed with LGMD and DCM can be rarely associated: https://omim.org/clinicalSynopsis/604286. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Dilated Cardiomyopathy and conduction defects v1.54 SDHA Rebecca Whittington commented on gene: SDHA: Alston (J Med Genet 2012;49:569577. doi:10.1136/jmedgenet-2012-101146) reported a case of DCM and leukodystrophy in a patient compound heterozygous for variants in this gene. Levitas (2010 European Journal of Human Genetics (2010) 18, 11601165; doi:10.1038/ejhg.2010.83; published online 16 June 2010) This is a more early onset recessive, mitochondrial gene. Homozygosity for a specific variant G555E in dilated cardiomyopathy in specific populations including in 2010 the Bedouin population - 15 cases of paediatric cardiomyopathy - variant p.Gly555Glu has only one allele on GnomAD. This variant was also described in other populations assoc with DCM including Pagnamenta Mol Genet Metab. 2006 Nov;89(3):214-21. Epub 2006 Jun 23 and Van Coster Am J Med Genet A. 2003 Jul 1;120A(1):13-8.
Dilated Cardiomyopathy and conduction defects v1.54 NPPA Rebecca Whittington commented on gene: NPPA: AR disease: Disertori (Circ Cardiovasc Genet. 2013 Feb;6(1):27-36. doi: 10.1161/CIRCGENETICS.112.963520. Epub 2012 Dec 29).ARg150Gln identified in the homozygous state in six individuals in a small region of Italy patients had DCM and atrial standstill.
Dilated Cardiomyopathy and conduction defects v1.54 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: HGMD: Four variants classed as DM and associated with DCM: Hanley 2016 (Hanley et al. BMC Medical Genetics (2016) 17:83): Two families with variants in the same codon I184. Some suggestion of variants tracking with disease, family members have mix of DCM and CHD such as VSD and ASD as well as conduction defects. Appears to have reduced disease penetrance so some evidence but not strong. 1 family tracks with disease in 2 generations but also found in four unaffected family members (reduced penetrance and possibly age of onset); second family variant tracks through 2 generations with four affected family members, but not seen in a family member with VSD and a second family member with VT. Neither variant on GnomAD. Yuan 2015 reports a variant fully penetrant tracking with DCM patients also had AF and AVB. Study of this variant in an insilico study suggests pathogenic: Abdul Samad PLoS One. 2016 May 6;11(5):e0153999. doi: 10.1371/journal.pone.0153999. eCollection 2016. Xu Int Heart J 2017; 58: 521-529: two patients with NKX2-5 vairants who presented with adult onset DCM but also previously had VSD and AVB, both variants were de novo following parental studies.
Dilated Cardiomyopathy and conduction defects v1.54 MPO Rebecca Whittington commented on gene: MPO: No reference to DCM on HGMD or OMIM or as far as I can see in the literature
Dilated Cardiomyopathy and conduction defects v1.54 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: HGMD: 8 variants listed assoc with DCM (6) and ARVC (2). One reference with cardiomyopathy 2018: Szabadosova J Clin Lab Anal. 2018 Feb;32(2) - NGS screens of cardiomyopathy patients. A 2011 paper: Rodriguez (2011) Circ Cardiovasc Genet 4: 349 PubMed: 21642240 describes 6 variants assoc with DCM, 3 LP - 2 segregated with disease and functional studies in rat myocytes supported pathogenicity, however all have some freq including one which segregates with disease has 24 alleles on Gnomad and 1 homozygote .
Dilated Cardiomyopathy and conduction defects v1.54 ACTA1 Rebecca Whittington commented on gene: ACTA1: Very rare cause but can be an additional feature along with myopathy see: Gatayama Pediatrics 2013;131:e1e5 - 1 case study of nemaline myopathy and DCM. Reza 2018 (Circ Genom Precis Med. 2018;11:e002243. DOI: 10.1161/CIRCGEN.118.002243) - large family with a proband, sibling and cousin all affected with DCM and a ACTA1 variant which has no GnomAD freq, there are three obligate carriers of the variant who are affected between these relatives, suggesting high penetrance disease causing variant, adult onset in this family reported. Tadokoro 2018( Journal of the Neurological Sciences 393 (2018) 142144: 1) presented a case series of 7 patients presenting with myopathy: 2 had DCM 5 had HCM, all childhood onset.
Dilated Cardiomyopathy and conduction defects v1.54 SCN1B Rebecca Whittington commented on gene: SCN1B: https://omim.org/entry/600235?search=scn1b&highlight=scn1b. Appears to be associated with conduction defects and AF. Not listed on HGMD with DCM.
Dilated Cardiomyopathy and conduction defects v1.54 PSEN2 Rebecca Whittington commented on gene: PSEN2: DCM very rare. Li 2006 Am J Hum Genet 79:1030.
Dilated Cardiomyopathy and conduction defects v1.54 PSEN1 Rebecca Whittington commented on gene: PSEN1: DCM very rare. Li 2006 Am J Hum Genet 79:1030.
Dilated Cardiomyopathy and conduction defects v1.54 GATAD1 Rebecca Whittington commented on gene: GATAD1: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1. HGMD: only one variant - AR disease: Theis (2011) Circ Cardiovasc Genet 4: 585 PubMed: 21965549 Summary: 1 piece of literature with one homozygote variant - two affected individuals and consanguenious family. Functional studies undertaken.
Dilated Cardiomyopathy and conduction defects v1.54 TFR2 Rebecca Whittington commented on gene: TFR2: https://omim.org/clinicalSynopsis/604250. Cardiomyopathy is not a key feature so not a lot in literature - in Gene reviews states that cardiomyopathy is rare (https://www.ncbi.nlm.nih.gov/books/NBK1349/). Onset is younger than HFE - young adults upwards.
Dilated Cardiomyopathy and conduction defects v1.54 SLC40A1 Rebecca Whittington commented on gene: SLC40A1: Associated with AD Haemochromatosis which can be more paediatric to adult onset as shown in OMIM (see this variant SLC40A1, 3-BP DEL, VAL162DEL). Griffiths 2010 (Hepatology. 2010 Mar;51(3):788-95. doi: 10.1002/hep.23377). No Gene reviews and on OMIM does not go into details about how common the cardiac features are.
Dilated Cardiomyopathy and conduction defects v1.54 RAB3GAP2 Rebecca Whittington commented on gene: RAB3GAP2: ?? Cannot find anything relevant in google or gene reviews - one paper in 2017 re severe DCM in the ITPA gene which has features similar to RAB3GAP2 ( Martsolf syndrome and DCM).
Dilated Cardiomyopathy and conduction defects v1.54 PPP1R13L Rebecca Whittington commented on gene: PPP1R13L: Mouse model showed progressive DCM (Herron 2005 Hum Mol Genet. 2005 Mar 1;14(5):667-77). HGMD: 2017 paper: Falik-Zaccai (2017) EMBO Mol Med 9, 319 - reported five Arab Christian infants, aged 430 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3 and were homozygous for the same nonsense variant in this gene. Patients fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice.
Dilated Cardiomyopathy and conduction defects v1.54 IDH2 Rebecca Whittington commented on gene: IDH2: A feature can be dilated cardiomyopathy. Nota (J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961) - two paediatric cases where first signs picked up prenatally on ultrasound, one of the two died of cardiac failure age 8 years. Kranendijk J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961. - Variant at 140 assoc with this disorder. Note on HGMD only two variants in same nucleotide described. Akbay states cardiomyopathy requiring treatment is frequently observed in type II D2HGA patients (Kranendijk et al. 2010b, 2012). Note: 14 patients described in Kranendijk 2010 - 13 arisen denovo for the same variant Arg140Gln and also reported Arg140Gly in a patient.
Dilated Cardiomyopathy and conduction defects v1.54 HFE2 Rebecca Whittington commented on gene: HFE2: Assoc with haemochromatosis type 2A - this gene on omim is HJV?? early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/. See https://omim.org/entry/608374#0009.
Dilated Cardiomyopathy and conduction defects v1.54 HAMP Rebecca Whittington commented on gene: HAMP: Assoc with haemochromatosis type 2B Blood2018132:101-110;doi: https://doi.org/10.1182/blood-2018-02-830562. - early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/.
Dilated Cardiomyopathy and conduction defects v1.54 EPG5 Rebecca Whittington commented on gene: EPG5: Cullop, Nat Genet. 2013 January ; 45(1): 8387. 13 individuals with AR Vici syndrome which features include: callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation - patients are all paediatric so suggest paediatric panel. Ehmke 2014 - reviewed literature - 24 cases , including their patient who was homozygous for a variant in penultimate exon of the gene (Am J Med Genet A. 2014 Dec;164A(12):3170-5). Byrne 2016 (BRAIN 2016: 139; 765781) again review of literature mentions 50 cases, the consistent features do not include cardiomyopathy but is a frequent feature. Includes a knock down drosophilia model.
Dilated Cardiomyopathy and conduction defects v1.53 XK Rebecca Whittington reviewed gene: XK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TXNRD2 Rebecca Whittington reviewed gene: TXNRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TTR Rebecca Whittington reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TMPO Rebecca Whittington reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TMEM43 Rebecca Whittington reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SYNE2 Rebecca Whittington reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SYNE1 Rebecca Whittington reviewed gene: SYNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PRKAG2 Rebecca Whittington reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PRDM16 Rebecca Whittington reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PDLIM3 Rebecca Whittington reviewed gene: PDLIM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 NEBL Rebecca Whittington reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYL3 Rebecca Whittington reviewed gene: MYL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYL2 Rebecca Whittington reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LAMP2 Rebecca Whittington reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LAMA4 Rebecca Whittington reviewed gene: LAMA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 JUP Rebecca Whittington reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ILK Rebecca Whittington reviewed gene: ILK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 GLA Rebecca Whittington reviewed gene: GLA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FLNC Rebecca Whittington reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FHL2 Rebecca Whittington reviewed gene: FHL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FHL1 Rebecca Whittington reviewed gene: FHL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 EMD Rebecca Whittington reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DSG2 Rebecca Whittington reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DSC2 Rebecca Whittington reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DOLK Rebecca Whittington reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DNAJC19 Rebecca Whittington reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DMPK Rebecca Whittington reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 CTF1 Rebecca Whittington reviewed gene: CTF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYPN Rebecca Whittington reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 CRYAB Rebecca Whittington reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ANKRD1 Rebecca Whittington reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 VCL Rebecca Whittington reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TTN Rebecca Whittington reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TPM1 Rebecca Whittington reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TNNT2 Rebecca Whittington reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TNNI3 Rebecca Whittington reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TNNC1 Rebecca Whittington reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TCAP Rebecca Whittington reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TAZ Rebecca Whittington reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SGCD Rebecca Whittington reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 RBM20 Rebecca Whittington reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 RAF1 Rebecca Whittington reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PLN Rebecca Whittington reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 NEXN Rebecca Whittington reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYH7 Rebecca Whittington reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYH6 Rebecca Whittington reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYBPC3 Rebecca Whittington reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LDB3 Rebecca Whittington reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 HFE Rebecca Whittington reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FKTN Rebecca Whittington reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 EYA4 Rebecca Whittington reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DSP Rebecca Whittington reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DMD Rebecca Whittington reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DES Rebecca Whittington reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 CSRP3 Rebecca Whittington reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 BAG3 Rebecca Whittington reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ACTN2 Rebecca Whittington reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ACTC1 Rebecca Whittington reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ABCC9 Rebecca Whittington reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SGCB Rebecca Whittington reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 SDHA Rebecca Whittington reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 NPPA Rebecca Whittington reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 NKX2-5 Rebecca Whittington reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 MPO Rebecca Whittington reviewed gene: MPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 CAVIN4 Rebecca Whittington reviewed gene: CAVIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.53 ACTA1 Rebecca Whittington reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 PSEN2 Rebecca Whittington reviewed gene: PSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 PSEN1 Rebecca Whittington reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 GATAD1 Rebecca Whittington reviewed gene: GATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 TFR2 Rebecca Whittington reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 SLC40A1 Rebecca Whittington reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 RAB3GAP2 Rebecca Whittington reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 PPP1R13L Rebecca Whittington reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 IDH2 Rebecca Whittington reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 HFE2 Rebecca Whittington reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 HAMP Rebecca Whittington reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 EPG5 Rebecca Whittington reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.52 Ellen McDonagh List of related panels changed from Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM); Dilated cardiomyopathy - teen and adult to Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM); Dilated cardiomyopathy - teen and adult
Dilated Cardiomyopathy and conduction defects v1.50 Ellen McDonagh Panel name changed from Dilated cardiomyopathy - teen and adult to Dilated Cardiomyopathy and conduction defects
List of related panels changed from Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM) to Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM); Dilated cardiomyopathy - teen and adult
Panel types changed to Rare Disease 100K
Dilated Cardiomyopathy and conduction defects v1.49 ALMS1 Ellen McDonagh Classified gene: ALMS1 as Red List (low evidence)
Dilated Cardiomyopathy and conduction defects v1.49 ALMS1 Ellen McDonagh Added comment: Comment on list classification: Added to the panel by expert reviewer.
Dilated Cardiomyopathy and conduction defects v1.49 ALMS1 Ellen McDonagh Gene: alms1 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy and conduction defects v1.48 ALMS1 Ellen McDonagh Publications for gene: ALMS1 were set to PMID: 2030; 1444
Dilated Cardiomyopathy and conduction defects v1.47 TTN James Eden edited their review of gene: TTN: Changed publications: 20186049, 27532257, 22335739, 25589632, 29238064, 26777568, 27869827
Dilated Cardiomyopathy and conduction defects v1.47 XK Ellen McDonagh Source South West GLH was added to XK.
Mode of inheritance for gene XK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy and conduction defects v1.47 TXNRD2 Ellen McDonagh Source South West GLH was added to TXNRD2.
Mode of inheritance for gene TXNRD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 TTR Ellen McDonagh Source South West GLH was added to TTR.
Mode of inheritance for gene TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 TMPO Ellen McDonagh Source South West GLH was added to TMPO.
Mode of inheritance for gene TMPO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 TMEM43 Ellen McDonagh Source South West GLH was added to TMEM43.
Mode of inheritance for gene TMEM43 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 SYNE2 Ellen McDonagh Source South West GLH was added to SYNE2.
Mode of inheritance for gene SYNE2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 SYNE1 Ellen McDonagh Source South West GLH was added to SYNE1.
Mode of inheritance for gene SYNE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 SGCB Ellen McDonagh Source South West GLH was added to SGCB.
Mode of inheritance for gene SGCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 SDHA Ellen McDonagh Source South West GLH was added to SDHA.
Mode of inheritance for gene SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 RYR2 Ellen McDonagh Source South West GLH was added to RYR2.
Mode of inheritance for gene RYR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 PRKAG2 Ellen McDonagh Source South West GLH was added to PRKAG2.
Mode of inheritance for gene PRKAG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 PRDM16 Ellen McDonagh Source South West GLH was added to PRDM16.
Mode of inheritance for gene PRDM16 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 PKP2 Ellen McDonagh Source South West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 PDLIM3 Ellen McDonagh Source South West GLH was added to PDLIM3.
Dilated Cardiomyopathy and conduction defects v1.47 NPPA Ellen McDonagh Source South West GLH was added to NPPA.
Mode of inheritance for gene NPPA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 NKX2-5 Ellen McDonagh Source South West GLH was added to NKX2-5.
Mode of inheritance for gene NKX2-5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 NEBL Ellen McDonagh Source South West GLH was added to NEBL.
Mode of inheritance for gene NEBL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 MYL3 Ellen McDonagh Source South West GLH was added to MYL3.
Mode of inheritance for gene MYL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 MYL2 Ellen McDonagh Source South West GLH was added to MYL2.
Mode of inheritance for gene MYL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 MPO Ellen McDonagh Source South West GLH was added to MPO.
Mode of inheritance for gene MPO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 LAMP2 Ellen McDonagh Source South West GLH was added to LAMP2.
Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy and conduction defects v1.47 LAMA4 Ellen McDonagh Source South West GLH was added to LAMA4.
Mode of inheritance for gene LAMA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 JUP Ellen McDonagh Source South West GLH was added to JUP.
Mode of inheritance for gene JUP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 ILK Ellen McDonagh Source South West GLH was added to ILK.
Mode of inheritance for gene ILK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 GLA Ellen McDonagh Source South West GLH was added to GLA.
Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dilated Cardiomyopathy and conduction defects v1.47 FLNC Ellen McDonagh Source South West GLH was added to FLNC.
Mode of inheritance for gene FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 FHL2 Ellen McDonagh Source South West GLH was added to FHL2.
Dilated Cardiomyopathy and conduction defects v1.47 FHL1 Ellen McDonagh Source South West GLH was added to FHL1.
Mode of inheritance for gene FHL1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dilated Cardiomyopathy and conduction defects v1.47 EMD Ellen McDonagh Source South West GLH was added to EMD.
Mode of inheritance for gene EMD was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy and conduction defects v1.47 DSG2 Ellen McDonagh Source South West GLH was added to DSG2.
Mode of inheritance for gene DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 DSC2 Ellen McDonagh Source South West GLH was added to DSC2.
Mode of inheritance for gene DSC2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 DOLK Ellen McDonagh Source South West GLH was added to DOLK.
Mode of inheritance for gene DOLK was changed from to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 DNAJC19 Ellen McDonagh Source South West GLH was added to DNAJC19.
Dilated Cardiomyopathy and conduction defects v1.47 DMPK Ellen McDonagh Source South West GLH was added to DMPK.
Mode of inheritance for gene DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 CTF1 Ellen McDonagh Source South West GLH was added to CTF1.
Mode of inheritance for gene CTF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 CAVIN4 Ellen McDonagh Source South West GLH was added to CAVIN4.
Dilated Cardiomyopathy and conduction defects v1.47 ACTA1 Ellen McDonagh Source South West GLH was added to ACTA1.
Mode of inheritance for gene ACTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 SCN1B Ellen McDonagh Source South West GLH was added to SCN1B.
Mode of inheritance for gene SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 PSEN2 Ellen McDonagh Source South West GLH was added to PSEN2.
Mode of inheritance for gene PSEN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 PSEN1 Ellen McDonagh Source South West GLH was added to PSEN1.
Mode of inheritance for gene PSEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 MYPN Ellen McDonagh Source South West GLH was added to MYPN.
Mode of inheritance for gene MYPN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 GATAD1 Ellen McDonagh Source South West GLH was added to GATAD1.
Mode of inheritance for gene GATAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 CRYAB Ellen McDonagh Source South West GLH was added to CRYAB.
Mode of inheritance for gene CRYAB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 ANKRD1 Ellen McDonagh Source South West GLH was added to ANKRD1.
Mode of inheritance for gene ANKRD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 VCL Ellen McDonagh Source South West GLH was added to VCL.
Mode of inheritance for gene VCL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 TTN Ellen McDonagh Source South West GLH was added to TTN.
Mode of inheritance for gene TTN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 TPM1 Ellen McDonagh Source South West GLH was added to TPM1.
Mode of inheritance for gene TPM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 TNNT2 Ellen McDonagh Source South West GLH was added to TNNT2.
Mode of inheritance for gene TNNT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 TNNI3 Ellen McDonagh Source South West GLH was added to TNNI3.
Dilated Cardiomyopathy and conduction defects v1.47 TNNC1 Ellen McDonagh Source South West GLH was added to TNNC1.
Mode of inheritance for gene TNNC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 TFR2 Ellen McDonagh Source South West GLH was added to TFR2.
Dilated Cardiomyopathy and conduction defects v1.47 TCAP Ellen McDonagh Source South West GLH was added to TCAP.
Mode of inheritance for gene TCAP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 TAZ Ellen McDonagh Source South West GLH was added to TAZ.
Mode of inheritance for gene TAZ was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.47 SLC40A1 Ellen McDonagh Source South West GLH was added to SLC40A1.
Dilated Cardiomyopathy and conduction defects v1.47 SGCD Ellen McDonagh Source South West GLH was added to SGCD.
Mode of inheritance for gene SGCD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 SCN5A Ellen McDonagh Source South West GLH was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 RBM20 Ellen McDonagh Source South West GLH was added to RBM20.
Mode of inheritance for gene RBM20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 RAF1 Ellen McDonagh gene: RAF1 was added
gene: RAF1 was added to Dilated cardiomyopathy - teen and adult. Sources: South West GLH
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 RAB3GAP2 Ellen McDonagh Source South West GLH was added to RAB3GAP2.
Dilated Cardiomyopathy and conduction defects v1.47 PPP1R13L Ellen McDonagh Source South West GLH was added to PPP1R13L.
Dilated Cardiomyopathy and conduction defects v1.47 PLN Ellen McDonagh Source South West GLH was added to PLN.
Mode of inheritance for gene PLN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 NEXN Ellen McDonagh Source South West GLH was added to NEXN.
Mode of inheritance for gene NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 MYH7 Ellen McDonagh Source South West GLH was added to MYH7.
Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 MYH6 Ellen McDonagh Source South West GLH was added to MYH6.
Mode of inheritance for gene MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 MYBPC3 Ellen McDonagh Source South West GLH was added to MYBPC3.
Mode of inheritance for gene MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 LMNA Ellen McDonagh Source South West GLH was added to LMNA.
Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 LDB3 Ellen McDonagh Source South West GLH was added to LDB3.
Mode of inheritance for gene LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 IDH2 Ellen McDonagh Source South West GLH was added to IDH2.
Mode of inheritance for gene IDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 HFE2 Ellen McDonagh Source South West GLH was added to HFE2.
Dilated Cardiomyopathy and conduction defects v1.47 HFE Ellen McDonagh Source South West GLH was added to HFE.
Dilated Cardiomyopathy and conduction defects v1.47 HAMP Ellen McDonagh Source South West GLH was added to HAMP.
Dilated Cardiomyopathy and conduction defects v1.47 FKTN Ellen McDonagh Source South West GLH was added to FKTN.
Dilated Cardiomyopathy and conduction defects v1.47 EYA4 Ellen McDonagh Source South West GLH was added to EYA4.
Mode of inheritance for gene EYA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 EPG5 Ellen McDonagh Source South West GLH was added to EPG5.
Dilated Cardiomyopathy and conduction defects v1.47 DSP Ellen McDonagh Source South West GLH was added to DSP.
Dilated Cardiomyopathy and conduction defects v1.47 DMD Ellen McDonagh Source South West GLH was added to DMD.
Dilated Cardiomyopathy and conduction defects v1.47 DES Ellen McDonagh Source South West GLH was added to DES.
Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 CSRP3 Ellen McDonagh Source South West GLH was added to CSRP3.
Mode of inheritance for gene CSRP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 BAG3 Ellen McDonagh Source South West GLH was added to BAG3.
Mode of inheritance for gene BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 ACTN2 Ellen McDonagh Source South West GLH was added to ACTN2.
Mode of inheritance for gene ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 ACTC1 Ellen McDonagh Source South West GLH was added to ACTC1.
Mode of inheritance for gene ACTC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.47 ABCC9 Ellen McDonagh Source South West GLH was added to ABCC9.
Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.46 GATAD1 Ellen McDonagh edited their review of gene: GATAD1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Dilated Cardiomyopathy and conduction defects v1.46 TBX20 Ellen McDonagh reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 PRDM16 Ellen McDonagh reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 PKP2 Ellen McDonagh reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 LAMP2 Ellen McDonagh reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 JUP Ellen McDonagh reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 DSG2 Ellen McDonagh reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 DSC2 Ellen McDonagh reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 MYPN Ellen McDonagh reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 CRYAB Ellen McDonagh edited their review of gene: CRYAB: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Dilated Cardiomyopathy and conduction defects v1.46 ANKRD1 Ellen McDonagh edited their review of gene: ANKRD1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Dilated Cardiomyopathy and conduction defects v1.46 VCL Ellen McDonagh reviewed gene: VCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 TTN Ellen McDonagh reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 TPM1 Ellen McDonagh reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 TNNT2 Ellen McDonagh reviewed gene: TNNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 TNNI3 Ellen McDonagh reviewed gene: TNNI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 TNNC1 Ellen McDonagh reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 TCAP Ellen McDonagh reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 SGCD Ellen McDonagh reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 SCN5A Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Dilated Cardiomyopathy and conduction defects v1.46 RBM20 Ellen McDonagh reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 PLN Ellen McDonagh reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 NEXN Ellen McDonagh reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 MYH7 Ellen McDonagh reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 MYH6 Ellen McDonagh reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 MYBPC3 Ellen McDonagh edited their review of gene: MYBPC3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Dilated Cardiomyopathy and conduction defects v1.46 LMNA Ellen McDonagh reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 LDB3 Ellen McDonagh reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 FKTN Ellen McDonagh reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 EYA4 Ellen McDonagh reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 DSP Ellen McDonagh reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 DMD Ellen McDonagh reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 DES Ellen McDonagh reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 CSRP3 Ellen McDonagh reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 BAG3 Ellen McDonagh reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 ACTN2 Ellen McDonagh reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 ACTC1 Ellen McDonagh reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.46 ABCC9 Ellen McDonagh reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.45 GATAD1 Ellen McDonagh Source London South GLH was added to GATAD1.
Dilated Cardiomyopathy and conduction defects v1.45 TBX20 Ellen McDonagh gene: TBX20 was added
gene: TBX20 was added to Dilated cardiomyopathy - teen and adult. Sources: London South GLH
Mode of inheritance for gene: TBX20 was set to
Dilated Cardiomyopathy and conduction defects v1.45 PRDM16 Ellen McDonagh Source London South GLH was added to PRDM16.
Dilated Cardiomyopathy and conduction defects v1.45 PKP2 Ellen McDonagh Source London South GLH was added to PKP2.
Dilated Cardiomyopathy and conduction defects v1.45 LAMP2 Ellen McDonagh Source London South GLH was added to LAMP2.
Dilated Cardiomyopathy and conduction defects v1.45 JUP Ellen McDonagh Source London South GLH was added to JUP.
Dilated Cardiomyopathy and conduction defects v1.45 DSG2 Ellen McDonagh Source London South GLH was added to DSG2.
Dilated Cardiomyopathy and conduction defects v1.45 DSC2 Ellen McDonagh Source London South GLH was added to DSC2.
Dilated Cardiomyopathy and conduction defects v1.45 MYPN Ellen McDonagh Source London South GLH was added to MYPN.
Dilated Cardiomyopathy and conduction defects v1.45 CRYAB Ellen McDonagh Source London South GLH was added to CRYAB.
Dilated Cardiomyopathy and conduction defects v1.45 ANKRD1 Ellen McDonagh Source London South GLH was added to ANKRD1.
Dilated Cardiomyopathy and conduction defects v1.45 VCL Ellen McDonagh Source London South GLH was added to VCL.
Dilated Cardiomyopathy and conduction defects v1.45 TTN Ellen McDonagh Source London South GLH was added to TTN.
Dilated Cardiomyopathy and conduction defects v1.45 TPM1 Ellen McDonagh Source London South GLH was added to TPM1.
Dilated Cardiomyopathy and conduction defects v1.45 TNNT2 Ellen McDonagh Source London South GLH was added to TNNT2.
Dilated Cardiomyopathy and conduction defects v1.45 TNNI3 Ellen McDonagh Source London South GLH was added to TNNI3.
Dilated Cardiomyopathy and conduction defects v1.45 TNNC1 Ellen McDonagh Source London South GLH was added to TNNC1.
Dilated Cardiomyopathy and conduction defects v1.45 TCAP Ellen McDonagh Source London South GLH was added to TCAP.
Dilated Cardiomyopathy and conduction defects v1.45 SGCD Ellen McDonagh Source London South GLH was added to SGCD.
Dilated Cardiomyopathy and conduction defects v1.45 SCN5A Ellen McDonagh Source London South GLH was added to SCN5A.
Dilated Cardiomyopathy and conduction defects v1.45 RBM20 Ellen McDonagh Source London South GLH was added to RBM20.
Dilated Cardiomyopathy and conduction defects v1.45 PLN Ellen McDonagh Source London South GLH was added to PLN.
Dilated Cardiomyopathy and conduction defects v1.45 NEXN Ellen McDonagh Source London South GLH was added to NEXN.
Dilated Cardiomyopathy and conduction defects v1.45 MYH7 Ellen McDonagh Source London South GLH was added to MYH7.
Dilated Cardiomyopathy and conduction defects v1.45 MYH6 Ellen McDonagh Source London South GLH was added to MYH6.
Dilated Cardiomyopathy and conduction defects v1.45 MYBPC3 Ellen McDonagh Source London South GLH was added to MYBPC3.
Dilated Cardiomyopathy and conduction defects v1.45 LMNA Ellen McDonagh Source London South GLH was added to LMNA.
Dilated Cardiomyopathy and conduction defects v1.45 LDB3 Ellen McDonagh Source London South GLH was added to LDB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.45 FKTN Ellen McDonagh Source London South GLH was added to FKTN.
Dilated Cardiomyopathy and conduction defects v1.45 EYA4 Ellen McDonagh Source London South GLH was added to EYA4.
Dilated Cardiomyopathy and conduction defects v1.45 DSP Ellen McDonagh Source London South GLH was added to DSP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.45 DMD Ellen McDonagh Source London South GLH was added to DMD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.45 DES Ellen McDonagh Source London South GLH was added to DES.
Dilated Cardiomyopathy and conduction defects v1.45 CSRP3 Ellen McDonagh Source London South GLH was added to CSRP3.
Dilated Cardiomyopathy and conduction defects v1.45 BAG3 Ellen McDonagh Source London South GLH was added to BAG3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.45 ACTN2 Ellen McDonagh Source London South GLH was added to ACTN2.
Dilated Cardiomyopathy and conduction defects v1.45 ACTC1 Ellen McDonagh Source London South GLH was added to ACTC1.
Dilated Cardiomyopathy and conduction defects v1.45 ABCC9 Ellen McDonagh Source London South GLH was added to ABCC9.
Dilated Cardiomyopathy and conduction defects v1.44 TNNI3 James Eden edited their review of gene: TNNI3: Changed publications: 20186049, 27532257, 21533915
Dilated Cardiomyopathy and conduction defects v1.44 TNNT2 James Eden edited their review of gene: TNNT2: Changed publications: 20186049, 27532257, 20031601
Dilated Cardiomyopathy and conduction defects v1.44 TTN James Eden Deleted their comment
Dilated Cardiomyopathy and conduction defects v1.44 TTN James Eden edited their review of gene: TTN: Added comment: Gene currently tested on Manchester cardiac gene panel. 346 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, limited association with hypertrophic cardiomyopathy (accessed 29/01/2019).; Changed publications: 20186049, 27532257, 22335739, 25589632, 29238064, 26777568
Dilated Cardiomyopathy and conduction defects v1.44 VCL James Eden reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1W (611407), Cardiomyopathy, hypertrophic, 15 (613255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TTN James Eden reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1G (604145), Cardiomyopathy, familial hypertrophic, 9 (613765), Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807), Myopathy, proximal, with early respiratory muscle involvement (603689), Salih myopathy (611705), Tibial muscular dystrophy, tardive (600334); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TPM1 James Eden reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1Y (611878), Cardiomyopathy, hypertrophic, 3 (115196), Left ventricular noncompaction 9 ( 611878); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TNNT2 James Eden reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1D (601494), Cardiomyopathy, familial restrictive, 3 (612422), Cardiomyopathy, hypertrophic, 2 (115195), Left ventricular noncompaction 6 (601494); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TNNI3 James Eden reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 2A (611880), Cardiomyopathy, dilated, 1FF (613286), Cardiomyopathy, familial restrictive, 1 (115210), Cardiomyopathy, hypertrophic, 7 (613690); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TNNC1 James Eden reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1Z (611879), Cardiomyopathy, hypertrophic, 13 (613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TMPO James Eden reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: 16247757, 20186049, 27532257; Phenotypes: Dilated Cardiomyopathy, Dominant ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TCAP James Eden reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: 15582318, 20186049, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 25 (607487), Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 SGCD James Eden reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: ; Publications: 19259135, 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1L (606685), Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 SCN5A James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1E; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 RBM20 James Eden reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1DD (613172); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 PLN James Eden reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1P (609909), Cardiomyopathy, hypertrophic, 18 (613874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 NEXN James Eden reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 19881492, 27532257; Phenotypes: Cardiomyopathy, dilated, 1CC (613122), Cardiomyopathy, hypertrophic, 20 (613876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 MYH7 James Eden reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1S (613426), Cardiomyopathy, hypertrophic, 1 (192600), Laing distal myopathy (160500), Left ventricular noncompaction 5 (613426), Myopathy, myosin storage, autosomal dominant (608358), Myopathy, myosin storage, autosomal recessive (255160), Scapuloperoneal syndrome, myopathic type (181430); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 MYH6 James Eden reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: 15998695, 27532257; Phenotypes: Atrial septal defect 3 (614089), Cardiomyopathy, dilated, 1EE (613252), Cardiomyopathy, hypertrophic, 14 (613251), {Sick sinus syndrome 3} (614090); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 MYBPC3 James Eden reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; 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 Cardiomyopathy and conduction defects v1.44 LMNA James Eden reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1A (115200), Charcot-Marie-Tooth disease, type 2B1 (605588), Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350), Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516), Heart-hand syndrome, Slovenian type (610140), Hutchinson-Gilford progeria (176670), Lipodystrophy, familial partial, type 2 (151660), Malouf syndrome (212112), Mandibuloacral dysplasia (248370), Muscular dystrophy, congenital (613205), Restrictive dermopathy, lethal (275210); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 EYA4 James Eden reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: ; Publications: 15735644, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 1J (605362), Deafness, autosomal dominant 10 (601316); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 DES James Eden reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1I, (604765), Myopathy, myofibrillar, 1 (601419), Scapuloperoneal syndrome, neurogenic, Kaeser type (181400); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 CSRP3 James Eden reviewed gene: CSRP3: Rating: RED; Mode of pathogenicity: ; Publications: 18505755, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 1M (607482), Cardiomyopathy, hypertrophic, 12 (612124); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 ACTN2 James Eden reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26312134, 25224718, 27532257; Phenotypes: Cardiomyopathy, dilated, 1AA, with or without LVNC (612158), Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 ACTC1 James Eden reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: ; Publications: 26061005, 27532257; Phenotypes: Atrial septal defect 5 (612794), Cardiomyopathy, dilated, 1R (613424), Cardiomyopathy, hypertrophic, 11 (612098), Left ventricular noncompaction 4 (613424); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 ABCC9 James Eden reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: 15034580, 27532257; Phenotypes: Atrial fibrillation, familial, 12 (614050), Cardiomyopathy, dilated, 1O (608569); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.43 VCL Ellen McDonagh Source North West GLH was added to VCL.
Added phenotypes Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255) for gene: VCL
Publications for gene VCL were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TTN Ellen McDonagh Source North West GLH was added to TTN.
Added phenotypes Tibial muscular dystrophy, tardive (600334); Myopathy, proximal, with early respiratory muscle involvement (603689); Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807); Cardiomyopathy, familial hypertrophic, 9 (613765); Salih myopathy (611705); Cardiomyopathy, dilated, 1G (604145) for gene: TTN
Publications for gene TTN were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TPM1 Ellen McDonagh Source North West GLH was added to TPM1.
Added phenotypes Left ventricular noncompaction 9 ( 611878); Cardiomyopathy, hypertrophic, 3 (115196); Cardiomyopathy, dilated, 1Y (611878) for gene: TPM1
Publications for gene TPM1 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TNNT2 Ellen McDonagh Source North West GLH was added to TNNT2.
Added phenotypes Cardiomyopathy, familial restrictive, 3 (612422); Cardiomyopathy, hypertrophic, 2 (115195); Left ventricular noncompaction 6 (601494); Cardiomyopathy, dilated, 1D (601494) for gene: TNNT2
Publications for gene TNNT2 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TNNI3 Ellen McDonagh Source North West GLH was added to TNNI3.
Added phenotypes Cardiomyopathy, hypertrophic, 7 (613690); ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, familial restrictive, 1 (115210) for gene: TNNI3
Publications for gene TNNI3 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TNNC1 Ellen McDonagh Source North West GLH was added to TNNC1.
Added phenotypes Cardiomyopathy, dilated, 1Z (611879); Cardiomyopathy, hypertrophic, 13 (613243) for gene: TNNC1
Publications for gene TNNC1 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TMPO Ellen McDonagh Source North West GLH was added to TMPO.
Added phenotypes Dilated Cardiomyopathy, Dominant for gene: TMPO
Publications for gene TMPO were changed from to 16247757; 27532257; 20186049
Dilated Cardiomyopathy and conduction defects v1.43 TCAP Ellen McDonagh Source North West GLH was added to TCAP.
Added phenotypes Cardiomyopathy, hypertrophic, 25 (607487); Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) for gene: TCAP
Publications for gene TCAP were changed from to 27532257; 15582318; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 SGCD Ellen McDonagh Source North West GLH was added to SGCD.
Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287); Cardiomyopathy, dilated, 1L (606685) for gene: SGCD
Publications for gene SGCD were changed from to 27532257; 20186049; 19259135
Dilated Cardiomyopathy and conduction defects v1.43 SCN5A Ellen McDonagh Source North West GLH was added to SCN5A.
Added phenotypes Cardiomyopathy, dilated, 1E for gene: SCN5A
Publications for gene SCN5A were changed from 28391114 to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 RBM20 Ellen McDonagh Source North West GLH was added to RBM20.
Added phenotypes Cardiomyopathy, dilated, 1DD (613172) for gene: RBM20
Publications for gene RBM20 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 PLN Ellen McDonagh Source North West GLH was added to PLN.
Added phenotypes Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874) for gene: PLN
Publications for gene PLN were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 NEXN Ellen McDonagh Source North West GLH was added to NEXN.
Added phenotypes Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876) for gene: NEXN
Publications for gene NEXN were changed from to 27532257; 19881492
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 MYH7 Ellen McDonagh Source North West GLH was added to MYH7.
Added phenotypes Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Laing distal myopathy (160500); Myopathy, myosin storage, autosomal recessive (255160); Cardiomyopathy, hypertrophic, 1 (192600); Cardiomyopathy, dilated, 1S (613426); Scapuloperoneal syndrome, myopathic type (181430) for gene: MYH7
Publications for gene MYH7 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 MYH6 Ellen McDonagh Source North West GLH was added to MYH6.
Added phenotypes Cardiomyopathy, dilated, 1EE (613252); {Sick sinus syndrome 3} (614090); Cardiomyopathy, hypertrophic, 14 (613251); Atrial septal defect 3 (614089) for gene: MYH6
Publications for gene MYH6 were changed from to 15998695; 27532257
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 MYBPC3 Ellen McDonagh Source North West GLH was added to MYBPC3.
Added phenotypes Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396); Cardiomyopathy, dilated, 1MM (615396) for gene: MYBPC3
Publications for gene MYBPC3 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 LMNA Ellen McDonagh Source North West GLH was added to LMNA.
Added phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Lipodystrophy, familial partial, type 2 (151660); Malouf syndrome (212112); Cardiomyopathy, dilated, 1A (115200); Mandibuloacral dysplasia (248370); Hutchinson-Gilford progeria (176670); Muscular dystrophy, congenital (613205); Heart-hand syndrome, Slovenian type (610140); Restrictive dermopathy, lethal (275210); Charcot-Marie-Tooth disease, type 2B1 (605588) for gene: LMNA
Publications for gene LMNA were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 EYA4 Ellen McDonagh Source North West GLH was added to EYA4.
Added phenotypes ?Cardiomyopathy, dilated, 1J (605362); Deafness, autosomal dominant 10 (601316) for gene: EYA4
Publications for gene EYA4 were changed from to 27532257; 15735644
Dilated Cardiomyopathy and conduction defects v1.43 DES Ellen McDonagh Source North West GLH was added to DES.
Added phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type (181400); Cardiomyopathy, dilated, 1I, (604765); Myopathy, myofibrillar, 1 (601419) for gene: DES
Publications for gene DES were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 CSRP3 Ellen McDonagh Source North West GLH was added to CSRP3.
Added phenotypes Cardiomyopathy, hypertrophic, 12 (612124); ?Cardiomyopathy, dilated, 1M (607482) for gene: CSRP3
Publications for gene CSRP3 were changed from to 27532257; 18505755
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 ACTN2 Ellen McDonagh Source North West GLH was added to ACTN2.
Added phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC (612158); Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158) for gene: ACTN2
Publications for gene ACTN2 were changed from to 27532257; 25224718; 26312134
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 ACTC1 Ellen McDonagh Source North West GLH was added to ACTC1.
Added phenotypes Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, hypertrophic, 11 (612098); Atrial septal defect 5 (612794) for gene: ACTC1
Publications for gene ACTC1 were changed from to 27532257; 26061005
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 ABCC9 Ellen McDonagh Source North West GLH was added to ABCC9.
Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9
Publications for gene ABCC9 were changed from to 27532257; 15034580
Dilated Cardiomyopathy and conduction defects v1.42 ALMS1 Denise Williams gene: ALMS1 was added
gene: ALMS1 was added to Dilated cardiomyopathy - teen and adult. Sources: Literature
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALMS1 were set to PMID: 2030; 1444
Phenotypes for gene: ALMS1 were set to cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy
Penetrance for gene: ALMS1 were set to Complete
Review for gene: ALMS1 was set to GREEN
Added comment: Sources: Literature
Dilated Cardiomyopathy and conduction defects v1.42 FLNC Ellen McDonagh Publications for gene: FLNC were set to
Dilated Cardiomyopathy and conduction defects v1.41 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Dilated Cardiomyopathy and conduction defects v1.41 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to new review, to raise for discussion with the NHSE GMS Cardiology specialist group.
Dilated Cardiomyopathy and conduction defects v1.41 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.40 FLNC Oxford Medical Genetics Laboratory edited their review of gene: FLNC: Added comment: Originally given red rating. Now evidence from the literature and our cohort that truncating variants in this gene cause DCM.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in DCM PMID: 29551499 , PMID: 28008423; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Dilated Cardiomyopathy and conduction defects v1.40 TFR2 Oxford Medical Genetics Laboratory reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 SLC40A1 Oxford Medical Genetics Laboratory reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 SGCD Oxford Medical Genetics Laboratory commented on gene: SGCD: Not fully reviewed. Would be interested to hear findings of Manchester laboratory testing this gene in DCM cohorts.
Dilated Cardiomyopathy and conduction defects v1.40 RAB3GAP2 Oxford Medical Genetics Laboratory reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 PPP1R13L Oxford Medical Genetics Laboratory reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 IDH2 Oxford Medical Genetics Laboratory reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 HFE2 Oxford Medical Genetics Laboratory reviewed gene: HFE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 HFE Oxford Medical Genetics Laboratory edited their review of gene: HFE: Added comment: Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.; Changed rating: RED
Dilated Cardiomyopathy and conduction defects v1.40 HAMP Oxford Medical Genetics Laboratory reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 FKTN Oxford Medical Genetics Laboratory edited their review of gene: FKTN: Added comment: Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.; Changed rating: RED
Dilated Cardiomyopathy and conduction defects v1.40 EYA4 Oxford Medical Genetics Laboratory edited their review of gene: EYA4: Added comment: Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.; Changed rating: RED
Dilated Cardiomyopathy and conduction defects v1.40 EPG5 Oxford Medical Genetics Laboratory reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 ABCC9 Oxford Medical Genetics Laboratory edited their review of gene: ABCC9: Added comment: Cantu syndrome. No evidence for a roel in Pirmary AD DCM.; Changed rating: RED
Dilated Cardiomyopathy and conduction defects v1.39 FLNC Ellen McDonagh Source Wessex and West Midlands GLH was added to FLNC.
Dilated Cardiomyopathy and conduction defects v1.39 TFR2 Ellen McDonagh Source Wessex and West Midlands GLH was added to TFR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 SLC40A1 Ellen McDonagh Source Wessex and West Midlands GLH was added to SLC40A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 SGCD Ellen McDonagh Source Wessex and West Midlands GLH was added to SGCD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 RAB3GAP2 Ellen McDonagh Source Wessex and West Midlands GLH was added to RAB3GAP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 PPP1R13L Ellen McDonagh Source Wessex and West Midlands GLH was added to PPP1R13L.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 IDH2 Ellen McDonagh Source Wessex and West Midlands GLH was added to IDH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 HFE2 Ellen McDonagh Source Wessex and West Midlands GLH was added to HFE2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 HFE Ellen McDonagh Source Wessex and West Midlands GLH was added to HFE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 HAMP Ellen McDonagh Source Wessex and West Midlands GLH was added to HAMP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 FKTN Ellen McDonagh Source Wessex and West Midlands GLH was added to FKTN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 EYA4 Ellen McDonagh Source Wessex and West Midlands GLH was added to EYA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 EPG5 Ellen McDonagh Source Wessex and West Midlands GLH was added to EPG5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 ABCC9 Ellen McDonagh Source Wessex and West Midlands GLH was added to ABCC9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.37 PPP1R13L Louise Daugherty Classified gene: PPP1R13L as Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.37 PPP1R13L Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Appropriate phenotypes, sufficient cases, and external review comment denoting extra cases and evidences all support gene-disease association.
Dilated Cardiomyopathy and conduction defects v1.37 PPP1R13L Louise Daugherty Gene: ppp1r13l has been classified as Green List (High Evidence).
Dilated Cardiomyopathy and conduction defects v1.36 PPP1R13L Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Dilated Cardiomyopathy and conduction defects v1.36 PPP1R13L Louise Daugherty Publications for gene: PPP1R13L were set to 28069640; 25691752; 19016676
Dilated Cardiomyopathy and conduction defects v1.35 Ellen McDonagh Panel name changed from Dilated Cardiomyopathy and conduction defects to Dilated cardiomyopathy - teen and adult
List of related panels changed from Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM) to Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM)
Panel types changed to Rare Disease 100K; GMS Rare Disease
Dilated Cardiomyopathy and conduction defects v1.34 PPP1R13L Sian Ellard reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28864777, 15661756; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.34 PPP1R13L Ellen McDonagh gene: PPP1R13L was added
gene: PPP1R13L was added to Dilated Cardiomyopathy and conduction defects. Sources: Literature
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 28069640; 25691752; 19016676
Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death
Added comment: PMID: 28069640 describes a large extended family pedigree, with 5 affected infants with Dilated cardiomyopathy who all died before the age of 3. A SNP predicted to cause a premature termination codon was identified c.2241C > G, p.Tyr747Ter in 3 affected patients as homozygous status and heterozygous in the patients. Sequencing was unavailable for two affected sisters. There is also evidence in animals - deficient mice die suddenly of cardiac death (PMID: 25691752), and in 13 Poll Hereford cattle with Cardiomyopathy and woolly haircoat syndrome (a lethal autosomal recessive disorder) a frameshift variant was identified, predicted to cause a premature stop codon. This gene is not currently associated with a disease in OMIM or Gene2Phenotype.
Sources: Literature
Dilated Cardiomyopathy and conduction defects HFE2 Louise Daugherty commented on HFE2
Dilated Cardiomyopathy and conduction defects DNAJC19 Ellen McDonagh classified DNAJC19 as Red List (low evidence)
Dilated Cardiomyopathy and conduction defects SCN5A Ellen McDonagh commented on SCN5A
Dilated Cardiomyopathy and conduction defects EPG5 Ellen McDonagh classified EPG5 as green
Dilated Cardiomyopathy and conduction defects EPG5 Ellen McDonagh added EPG5 to panel
Dilated Cardiomyopathy and conduction defects EPG5 Ellen McDonagh reviewed EPG5
Dilated Cardiomyopathy and conduction defects TMPO Rebecca Foulger classified TMPO as red
Dilated Cardiomyopathy and conduction defects TMPO Rebecca Foulger commented on TMPO
Dilated Cardiomyopathy and conduction defects MURC Louise Daugherty commented on MURC
Dilated Cardiomyopathy and conduction defects IDH2 Ellen McDonagh commented on IDH2
Dilated Cardiomyopathy and conduction defects IDH2 Sarah Leigh classified IDH2 as green
Dilated Cardiomyopathy and conduction defects IDH2 Sarah Leigh added IDH2 to panel
Dilated Cardiomyopathy and conduction defects IDH2 Sarah Leigh reviewed IDH2
Dilated Cardiomyopathy and conduction defects HFE2 Sarah Leigh classified HFE2 as green
Dilated Cardiomyopathy and conduction defects HFE2 Sarah Leigh added HFE2 to panel
Dilated Cardiomyopathy and conduction defects HFE2 Sarah Leigh reviewed HFE2
Dilated Cardiomyopathy and conduction defects HFE Sarah Leigh commented on HFE
Dilated Cardiomyopathy and conduction defects HFE Sarah Leigh classified HFE as green
Dilated Cardiomyopathy and conduction defects HAMP Sarah Leigh classified HAMP as green
Dilated Cardiomyopathy and conduction defects HAMP Sarah Leigh added HAMP to panel
Dilated Cardiomyopathy and conduction defects HAMP Sarah Leigh reviewed HAMP