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Cardiomyopathy_Paediatric v0.196 C1QBP Bryony Thompson Classified gene: C1QBP as Green List (high evidence)
Cardiomyopathy_Paediatric v0.196 C1QBP Bryony Thompson Gene: c1qbp has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.194 C1QBP Bryony Thompson gene: C1QBP was added
gene: C1QBP was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713
Cardiomyopathy_Paediatric v0.193 MYH6 Bryony Thompson Marked gene: MYH6 as ready
Cardiomyopathy_Paediatric v0.193 MYH6 Bryony Thompson Gene: myh6 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.193 MYH6 Bryony Thompson Classified gene: MYH6 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.193 MYH6 Bryony Thompson Added comment: Comment on list classification: ClinGen HCVD GCEP has classified the HCM association as Disputed (https://search.clinicalgenome.org/CCID:008325) and the DCM association as Limited (https://search.clinicalgenome.org/CCID:005520)
Cardiomyopathy_Paediatric v0.193 MYH6 Bryony Thompson Gene: myh6 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.192 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Cardiomyopathy_Paediatric v0.192 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.192 GTPBP3 Zornitza Stark Classified gene: GTPBP3 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.192 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.191 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP3 were set to 34276756; 25434004
Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23 MIM#616198
Review for gene: GTPBP3 was set to GREEN
Added comment: Clinical presentation: early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem.

At least 12 unrelated individuals reported.
Sources: Expert Review
Cardiomyopathy_Paediatric v0.190 MYPN Zornitza Stark Marked gene: MYPN as ready
Cardiomyopathy_Paediatric v0.190 MYPN Zornitza Stark Gene: mypn has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.190 MYPN Zornitza Stark Phenotypes for gene: MYPN were changed from Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248 to Congenital myopathy 24, MIM# 617336; Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248
Cardiomyopathy_Paediatric v0.189 MYPN Zornitza Stark Mode of inheritance for gene: MYPN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.188 MYPN Zornitza Stark Classified gene: MYPN as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.188 MYPN Zornitza Stark Gene: mypn has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.187 MYPN Zornitza Stark edited their review of gene: MYPN: Added comment: However, note that the AR skeletal myopathy condition has some reports of HCM in association.; Changed rating: AMBER; Changed phenotypes: Congenital myopathy 24, MIM# 617336, Cardiomyopathy, dilated, 1KK, MIM# 615248, Cardiomyopathy, hypertrophic, 22, MIM# 615248; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.187 MYPN Zornitza Stark Phenotypes for gene: MYPN were changed from Cardiomyopathy, dilated, 1KK; Cardiomypathy, familial hypertrophic, 22, to Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248
Cardiomyopathy_Paediatric v0.186 MYPN Zornitza Stark Mode of inheritance for gene: MYPN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.185 MYPN Zornitza Stark Classified gene: MYPN as Red List (low evidence)
Cardiomyopathy_Paediatric v0.185 MYPN Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.184 MYPN Zornitza Stark reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1KK, MIM# 615248, Cardiomyopathy, hypertrophic, 22, MIM# 615248; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.184 ANK2 Elena Savva Marked gene: ANK2 as ready
Cardiomyopathy_Paediatric v0.184 ANK2 Elena Savva Gene: ank2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.184 ANK2 Elena Savva Added comment: Comment on phenotypes: Association is disputed, gene associated to a neurodevelopmental disorder
Cardiomyopathy_Paediatric v0.184 ANK2 Elena Savva Phenotypes for gene: ANK2 were changed from to Cardiac arrhythmia, ankyrin-B-related MIM#600919; Long QT syndrome 4 MIM#600919
Cardiomyopathy_Paediatric v0.183 ANK2 Elena Savva Classified gene: ANK2 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.183 ANK2 Elena Savva Gene: ank2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.182 FHL2 Zornitza Stark Marked gene: FHL2 as ready
Cardiomyopathy_Paediatric v0.182 FHL2 Zornitza Stark Gene: fhl2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.182 FHL2 Zornitza Stark Classified gene: FHL2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.182 FHL2 Zornitza Stark Gene: fhl2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.181 FHL2 Zornitza Stark gene: FHL2 was added
gene: FHL2 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FHL2 were set to 36854411; 25358972
Phenotypes for gene: FHL2 were set to Cardiomyopathy, MONDO:0004994, FHL2-related
Review for gene: FHL2 was set to AMBER
Added comment: Emerging evidence that variants in this gene may be associated with cardiomyopathy.

Reports of HCM and DCM.

c.391C>T (p.Arg131Cys) may be recurrent in early-onset DCM.
Sources: Expert Review
Cardiomyopathy_Paediatric v0.180 CASZ1 Zornitza Stark Marked gene: CASZ1 as ready
Cardiomyopathy_Paediatric v0.180 CASZ1 Zornitza Stark Gene: casz1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.180 CASZ1 Zornitza Stark Phenotypes for gene: CASZ1 were changed from dilated cardiomyopathy, left ventricular non compaction to Dilated cardiomyopathy, MONDO:0005021, CASZ1-related; left ventricular non compaction
Cardiomyopathy_Paediatric v0.179 CASZ1 Zornitza Stark Classified gene: CASZ1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.179 CASZ1 Zornitza Stark Gene: casz1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.178 CASZ1 Ivan Macciocca gene: CASZ1 was added
gene: CASZ1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CASZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASZ1 were set to PMID: 28099117; 36293425; 31268246
Phenotypes for gene: CASZ1 were set to dilated cardiomyopathy, left ventricular non compaction
Penetrance for gene: CASZ1 were set to unknown
Review for gene: CASZ1 was set to GREEN
Added comment: rare cause of paeditric onsent DCM.
at least 3 papers report LoF variants, 2 of which each report a novel de novo frameshift variant in children diagnosed with DCM less than 1 and who died at 11 mths ( PMID: 31268246; Guo 2019) and 22mths (PMID: 36293425, Orlova 2022). Another paper (PMID: 28099117, Qiu 2017) reported a nonsense variant that segregated with DCM in a family in an AD fashion (full text not available).
Sources: Literature
Cardiomyopathy_Paediatric v0.178 CAMK2D Elena Savva Marked gene: CAMK2D as ready
Cardiomyopathy_Paediatric v0.178 CAMK2D Elena Savva Gene: camk2d has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.178 CAMK2D Elena Savva Classified gene: CAMK2D as Green List (high evidence)
Cardiomyopathy_Paediatric v0.178 CAMK2D Elena Savva Gene: camk2d has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.177 CAMK2D Elena Savva changed review comment from: PMID: 38272033
- 8 patients (5/8 de novo) with mostly missense and a single splice site variant, ages range from 5 weeks to 20 years old
- Most variants functionally shown to have a GOF mechanism causing addition DCM phenotype, LOF is only neurological
- Phenotypes include dev delay (mild-severe) (7/7 patients), skeletal anomalies (7/8, scoliosis, kyphosis, involving spine/hands/feet/palate), DCM (6/8), seizures (3/8), visual anomalies (astigmatism, cortical vision impairment, myopia, strabismus 5/5), enlarged brain ventricles (3/5)
Sources: Literature; to: PMID: 38272033
- 8 patients (5/8 de novo) with mostly missense and a single splice site variant, ages range from 5 weeks to 20 years old
- Most variants functionally shown to have a GOF mechanism causing addition DCM phenotype, LOF is only neurological
- Phenotypes include dev delay (mild-severe) (7/7 patients), skeletal anomalies (7/8, scoliosis, kyphosis, involving spine/hands/feet/palate), DCM (6/8), seizures (3/8), visual anomalies (astigmatism, cortical vision impairment, myopia, strabismus 5/5), enlarged brain ventricles (3/5)
Sources: Literature
Cardiomyopathy_Paediatric v0.177 CAMK2D Elena Savva gene: CAMK2D was added
gene: CAMK2D was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2D were set to 38272033
Phenotypes for gene: CAMK2D were set to Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related
Review for gene: CAMK2D was set to GREEN
Added comment: PMID: 38272033
- 8 patients (5/8 de novo) with mostly missense and a single splice site variant, ages range from 5 weeks to 20 years old
- Most variants functionally shown to have a GOF mechanism causing addition DCM phenotype, LOF is only neurological
- Phenotypes include dev delay (mild-severe) (7/7 patients), skeletal anomalies (7/8, scoliosis, kyphosis, involving spine/hands/feet/palate), DCM (6/8), seizures (3/8), visual anomalies (astigmatism, cortical vision impairment, myopia, strabismus 5/5), enlarged brain ventricles (3/5)
Sources: Literature
Cardiomyopathy_Paediatric v0.176 PKP2 Suliman Khan edited their review of gene: PKP2: Changed phenotypes: Cardiomyopathy, MONDO:0004994, PKP2-related
Cardiomyopathy_Paediatric v0.176 PKP2 Zornitza Stark Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021, PKP2-related; Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy_Paediatric v0.175 PKP2 Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dilated cardiomyopathy, MONDO:0005021, PKP2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.175 PKP2 Seb Lunke Marked gene: PKP2 as ready
Cardiomyopathy_Paediatric v0.175 PKP2 Seb Lunke Gene: pkp2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.175 PKP2 Elena Savva Mode of inheritance for gene: PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.174 PKP2 Suliman Khan reviewed gene: PKP2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.174 FLII Zornitza Stark Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 2J, MIM# 620635
Cardiomyopathy_Paediatric v0.173 FLII Zornitza Stark edited their review of gene: FLII: Changed phenotypes: Cardiomyopathy, dilated, 2J, MIM# 620635
Cardiomyopathy_Paediatric v0.173 RRAGC Zornitza Stark Phenotypes for gene: RRAGC were changed from Dilated cardiomyopathy (MONDO:0005021), RRAGC-related to Long-Olsen syndrome, MIM# 620609
Cardiomyopathy_Paediatric v0.172 ABCC9 Zornitza Stark Marked gene: ABCC9 as ready
Cardiomyopathy_Paediatric v0.172 ABCC9 Zornitza Stark Gene: abcc9 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.172 ABCC9 Zornitza Stark Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant to Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850; Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.171 ABCC9 Zornitza Stark Publications for gene: ABCC9 were set to 15034580
Cardiomyopathy_Paediatric v0.170 ABCC9 Zornitza Stark reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.170 ABCC9 Chern Lim edited their review of gene: ABCC9: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.170 ABCC9 Chern Lim reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 27532257, 28991257, 36129056, 31575858, 15034580; Phenotypes: Hypertrichotic osteochondrodysplasia (Cantu syndrome) (MIM#239850), AD, Intellectual disability and myopathy syndrome (MIM#619719), AR, Cardiomyopathy, dilated, 1O (MIM#608569), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cardiomyopathy_Paediatric v0.170 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Cardiomyopathy_Paediatric v0.169 PPP1R13L Zornitza Stark edited their review of gene: PPP1R13L: Changed phenotypes: Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Marked gene: CAP2 as ready
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Classified gene: CAP2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.168 CAP2 Daniel Flanagan gene: CAP2 was added
gene: CAP2 was added to Cardiomyopathy_Paediatric. Sources: Expert list
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840
Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)
Review for gene: CAP2 was set to GREEN
Added comment: Four patients from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

PMID: 33083013: Cheema
Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.

PMID: 34862840: Gurunathan
Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.

PMID: 30518548: Aspit
Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease.
Sources: Expert list
Cardiomyopathy_Paediatric v0.168 TBX20 Zornitza Stark Publications for gene: TBX20 were set to 26118961; 17668378; 27510170; 35282022
Cardiomyopathy_Paediatric v0.167 TBX20 Ivan Macciocca reviewed gene: TBX20: Rating: ; Mode of pathogenicity: None; Publications: 37657916; Phenotypes: ; Mode of inheritance: None
Cardiomyopathy_Paediatric v0.167 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Cardiomyopathy_Paediatric v0.167 UQCRB Zornitza Stark Gene: uqcrb has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.167 UQCRB Zornitza Stark Classified gene: UQCRB as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.167 UQCRB Zornitza Stark Gene: uqcrb has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.166 UQCRB Zornitza Stark reviewed gene: UQCRB: Rating: AMBER; Mode of pathogenicity: None; Publications: 12709789, 25446085, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.166 TBX5 Zornitza Stark Marked gene: TBX5 as ready
Cardiomyopathy_Paediatric v0.166 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.166 TBX5 Zornitza Stark Classified gene: TBX5 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.166 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.165 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX5 were set to 32449309; 32236096; 25963046; 25725155
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy
Review for gene: TBX5 was set to GREEN
Added comment: DCM is a feature of this congenital disorder.
Sources: Expert Review
Cardiomyopathy_Paediatric v0.164 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Cardiomyopathy_Paediatric v0.164 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.164 TBX20 Zornitza Stark Classified gene: TBX20 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.164 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.163 TBX20 Zornitza Stark gene: TBX20 was added
gene: TBX20 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX20 were set to 26118961; 17668378; 27510170; 35282022
Phenotypes for gene: TBX20 were set to Dilated cardiomyopathy, MONDO:0005021, TBX20-related
Review for gene: TBX20 was set to GREEN
Added comment: Multiple reports in literature, including of children. Also aware of additional four families identified internally, publication pending.
Sources: Literature
Cardiomyopathy_Paediatric v0.162 PRDM16 Zornitza Stark Marked gene: PRDM16 as ready
Cardiomyopathy_Paediatric v0.162 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.162 PRDM16 Zornitza Stark Classified gene: PRDM16 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.162 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.161 PRDM16 Zornitza Stark gene: PRDM16 was added
gene: PRDM16 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM16 were set to 29367541; 29447731; 30847666; 33082984; 32183154; 33500567; 34540771; 34350506; 34935411
Phenotypes for gene: PRDM16 were set to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Review for gene: PRDM16 was set to GREEN
Added comment: Paediatric onset reported.
Sources: Expert Review
Cardiomyopathy_Paediatric v0.160 RRAGC Zornitza Stark Phenotypes for gene: RRAGC were changed from Pediatric Dilated Cardiomyopathy to Dilated cardiomyopathy (MONDO:0005021), RRAGC-related
Cardiomyopathy_Paediatric v0.159 RRAGC Zornitza Stark Publications for gene: RRAGC were set to PMID: 29367541; 27234373
Cardiomyopathy_Paediatric v0.158 RRAGC Zornitza Stark Classified gene: RRAGC as Green List (high evidence)
Cardiomyopathy_Paediatric v0.158 RRAGC Zornitza Stark Gene: rragc has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.157 RRAGC Naomi Baker reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:37057673, 27234373, 33057194; Phenotypes: Dilated cardiomyopathy (MONDO:0005021), RRAGC-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.157 PPCS Bryony Thompson Marked gene: PPCS as ready
Cardiomyopathy_Paediatric v0.157 PPCS Bryony Thompson Gene: ppcs has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.157 PPCS Bryony Thompson reviewed gene: PPCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35616428, 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.157 ASNA1 Zornitza Stark Marked gene: ASNA1 as ready
Cardiomyopathy_Paediatric v0.157 ASNA1 Zornitza Stark Gene: asna1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.157 ASNA1 Zornitza Stark Classified gene: ASNA1 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.157 ASNA1 Zornitza Stark Gene: asna1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.156 RRAGD Zornitza Stark Marked gene: RRAGD as ready
Cardiomyopathy_Paediatric v0.156 RRAGD Zornitza Stark Gene: rragd has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.156 RRAGD Zornitza Stark Classified gene: RRAGD as Green List (high evidence)
Cardiomyopathy_Paediatric v0.156 RRAGD Zornitza Stark Gene: rragd has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.155 RRAGD Zornitza Stark gene: RRAGD was added
gene: RRAGD was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGD were set to 34607910
Phenotypes for gene: RRAGD were set to Inherited renal tubular disease, MONDO:0015962, RRAGD-related; dilated cardiomyopathy; hypomagnesaemia; renal salt-wasting; nephrocalcinosis
Review for gene: RRAGD was set to GREEN
Added comment: PMID: 34607910; Schlingmann, KP. et al. (2021) J Am Soc Nephrol. 32(11):2885-2899. Six missense variants in RRAGD identified in eight children (some early infant onset) from unrelated families. The variants were recurrent or affecting the same amino acid, i.e., p.S76L, S76W, p.T97P, p.P119L, p.P119R and p.I221K note: these are absent in gnomAD v2.1.1, and are very highly conserved residues. All variants are located in the N-terminal G-domain and affect sequence motifs involved in nucleotide binding The children had a tubulopathy characterised by hypomagnesemia, hypokalaemia, salt wasting, and nephrocalcinosis, and six had dilated cardiomyopathy. Most occurred de novo. Two were familial. One family with two affected siblings showed low level mosaicism in the mother. In vitro studies using transfected HEK293 cells showed increased binding to RPTOR and MTOR.
Sources: Literature
Cardiomyopathy_Paediatric v0.154 ASNA1 Naomi Baker gene: ASNA1 was added
gene: ASNA1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ASNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNA1 were set to 31461301; 16797549
Phenotypes for gene: ASNA1 were set to Dilated cardiomyopathy, MONDO:0001644, ASNA1-related
Review for gene: ASNA1 was set to RED
Added comment: Two siblings reported with biallelic variants - there were two variants on the paternal allele (c.867C>G p.(Cys289Trp) and c.913C>T p.(Gln305*)) and one variant on the maternal allele (c.488T>C p.(Val163Ala)). Unaffected sibling was heterozygous for maternal allele. Western blotting demonstrated reduced protein expression. Knockout of asna1 in zebrafish mode resulted in cardiac defects and early lethality. The Asna1 knockout mice displayed early embryonic lethality, consistent with a role of Asna1 in early embryonic development.
Sources: Literature
Cardiomyopathy_Paediatric v0.154 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Cardiomyopathy_Paediatric v0.154 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.154 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from HCM, mixed; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; DCM; Carnitine transporter deficiency (primary carnitine deficiency); Propionicacidemia to Carnitine deficiency, systemic primary MIM#212140
Cardiomyopathy_Paediatric v0.153 SLC22A5 Zornitza Stark Publications for gene: SLC22A5 were set to 24816252; 27604308
Cardiomyopathy_Paediatric v0.152 SLC22A5 Zornitza Stark Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.151 SLC22A5 Paul De Fazio reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22989098, 18337137, 27807682; Phenotypes: Carnitine deficiency, systemic primary MIM#212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cardiomyopathy_Paediatric v0.151 CRLS1 Zornitza Stark Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167
Cardiomyopathy_Paediatric v0.150 Zornitza Stark List of related panels changed from Cardiomyopathy; HP:0001638 to Cardiomyopathy; HP:0001638;Abnormality of the myocardium; HP:0001637
Cardiomyopathy_Paediatric v0.149 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Cardiomyopathy_Paediatric v0.149 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.149 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.149 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.148 TOR1AIP1 Zornitza Stark gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 27342937; 32055997; 25425325
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Review for gene: TOR1AIP1 was set to GREEN
Added comment: At least 15 affected individuals from 10 families with biallelic variants in this gene. Of these, 7 individuals (5 families) reported in PMID:30723199 harbour the same founder variant presenting a very similar phenotype, and are therefore considered collectively here.

Muscular dystrophy is the prominent feature of the disease presentation observed in at least one case individual each family, but specifically proximal limb-girdle dystrophy was recorded in 4 unrelated kindreds. Additional common features also include joint contractures (4 fam), dilated cardiomyopathy (4 fam), developmental delay (4 fam), and cataracts (3 fam).

Age of onset for cardiomyopathy was variable ranging from childhood to adulthood.
Sources: Literature
Cardiomyopathy_Paediatric v0.147 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Cardiomyopathy_Paediatric v0.147 SPRED2 Zornitza Stark Gene: spred2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.147 SPRED2 Zornitza Stark Classified gene: SPRED2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.147 SPRED2 Zornitza Stark Gene: spred2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.146 SPRED2 Zornitza Stark gene: SPRED2 was added
gene: SPRED2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, MIM# 619745
Review for gene: SPRED2 was set to AMBER
Added comment: Four individuals from three families reported with bi-allelic variants and a Noonan-like phenotype. One individual has HCM, and another asymmetrical interventricular septal hypertrophy.
Sources: Literature
Cardiomyopathy_Paediatric v0.145 GSN Zornitza Stark Marked gene: GSN as ready
Cardiomyopathy_Paediatric v0.145 GSN Zornitza Stark Gene: gsn has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.145 GSN Zornitza Stark gene: GSN was added
gene: GSN was added to Cardiomyopathy_Paediatric. Sources: Expert list
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSN were set to 26339870
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type, MIM# 105120
Review for gene: GSN was set to RED
Added comment: PMID: 26339870 found that 12/227 patients had cardiomyopathy and previous case reports and publications show that cardiomyopathy is only present in some cases and the age of diagnosis (or when pacemakers were implants into patients) is typically >50 years. Cardiomyopathy does not appear to be a presenting feature in childhood.
Sources: Expert list
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Marked gene: NDUFB7 as ready
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Classified gene: NDUFB7 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.143 NDUFB7 Zornitza Stark gene: NDUFB7 was added
gene: NDUFB7 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047; 27626371
Phenotypes for gene: NDUFB7 were set to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
Review for gene: NDUFB7 was set to AMBER
Added comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly.
Sources: Expert Review
Cardiomyopathy_Paediatric v0.142 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Cardiomyopathy_Paediatric v0.142 LDB3 Zornitza Stark Marked gene: LDB3 as ready
Cardiomyopathy_Paediatric v0.142 LDB3 Zornitza Stark Gene: ldb3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.142 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C to Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493
Cardiomyopathy_Paediatric v0.141 LDB3 Zornitza Stark Publications for gene: LDB3 were set to
Cardiomyopathy_Paediatric v0.140 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.139 LDB3 Zornitza Stark Classified gene: LDB3 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.139 LDB3 Zornitza Stark Gene: ldb3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.138 LDB3 Zornitza Stark reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.138 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Cardiomyopathy_Paediatric v0.138 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.138 CDH2 Zornitza Stark Phenotypes for gene: CDH2 were changed from to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920
Cardiomyopathy_Paediatric v0.137 CDH2 Zornitza Stark Publications for gene: CDH2 were set to
Cardiomyopathy_Paediatric v0.136 CDH2 Zornitza Stark Mode of inheritance for gene: CDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.135 CDH2 Zornitza Stark Classified gene: CDH2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.135 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.134 CDH2 Zornitza Stark changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.

Some presented in adolescence.
Cardiomyopathy_Paediatric v0.134 CDH2 Zornitza Stark reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28280076; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.134 LDB3 Suliman Khan reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36253531; Phenotypes: pediatric dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.134 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Cardiomyopathy_Paediatric v0.134 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Cardiomyopathy_Paediatric v0.134 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Cardiomyopathy_Paediatric v0.134 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Cardiomyopathy_Paediatric v0.134 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Cardiomyopathy_Paediatric v0.134 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Cardiomyopathy_Paediatric v0.134 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Cardiomyopathy_Paediatric v0.134 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Cardiomyopathy_Paediatric v0.134 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Cardiomyopathy_Paediatric v0.134 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Cardiomyopathy_Paediatric v0.134 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Cardiomyopathy_Paediatric v0.134 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Cardiomyopathy_Paediatric v0.134 Zornitza Stark HPO terms changed from to Cardiomyopathy, HP:0001638
List of related panels changed from to Cardiomyopathy; HP:0001638
Cardiomyopathy_Paediatric v0.133 MCM10 Zornitza Stark Classified gene: MCM10 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.133 MCM10 Zornitza Stark Gene: mcm10 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.132 MCM10 Zornitza Stark edited their review of gene: MCM10: Added comment: Upgraded due to functional evidence.; Changed rating: AMBER
Cardiomyopathy_Paediatric v0.132 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Dilated cardiomyopathy, onset in infancy to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy
Cardiomyopathy_Paediatric v0.131 PPP1R13L Krithika Murali reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.131 LMOD2 Seb Lunke Marked gene: LMOD2 as ready
Cardiomyopathy_Paediatric v0.131 LMOD2 Seb Lunke Gene: lmod2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.131 LMOD2 Seb Lunke Classified gene: LMOD2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.131 LMOD2 Seb Lunke Gene: lmod2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.130 LMOD2 Melanie Marty gene: LMOD2 was added
gene: LMOD2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD2 were set to 31517052; 34888509; 5082396; 35188328; 26487682
Phenotypes for gene: LMOD2 were set to Dilated cardiomyopathy MONDO:0005021
Review for gene: LMOD2 was set to GREEN
Added comment: 4 unrelated families with early onset dilated cardiomyopathy, autosomal recessive inheritance, functional studies showing loss of protein and a mouse model reported.

PMID: 31517052 1 x neonate with DCM, homozygous nonsense variant identified.

PMID: 34888509 2 x neonatal deaths (from 1 family) related to dilated cardiomyopathy (DCM), compound heterozygous loss-of-function variants identified.

PMID:35082396 2 x siblings with DCM who died shortly after birth due to heart failure, homozygous canonical splice variant identified. Functional studies show loss of donor site and loss of protein.

PMID: 35188328 1 x child (9 months) with DCM, with homozygous frameshift variant. Functional studies showed absence of LMOD2 protein (western blot).

PMID: 26487682 Lmod2 null (knockout) mice present with short cardiac thin filaments and die at ~3 weeks due to dysfunctional, dilated hearts
Sources: Literature
Cardiomyopathy_Paediatric v0.130 ATPAF2 Zornitza Stark Marked gene: ATPAF2 as ready
Cardiomyopathy_Paediatric v0.130 ATPAF2 Zornitza Stark Gene: atpaf2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.130 ATPAF2 Zornitza Stark Publications for gene: ATPAF2 were set to
Cardiomyopathy_Paediatric v0.129 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.129 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.128 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.128 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Cardiomyopathy_Paediatric v0.128 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.128 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Cardiomyopathy_Paediatric v0.127 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.127 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.126 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 32949790, 28853723, 18179882; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.126 CRLS1 Zornitza Stark Marked gene: CRLS1 as ready
Cardiomyopathy_Paediatric v0.126 CRLS1 Zornitza Stark Gene: crls1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.126 CRLS1 Zornitza Stark Phenotypes for gene: CRLS1 were changed from 35147173 to Mitochondrial disease MONDO:0044970 CRLS1-related
Cardiomyopathy_Paediatric v0.125 CRLS1 Zornitza Stark Publications for gene: CRLS1 were set to
Cardiomyopathy_Paediatric v0.124 CRLS1 Zornitza Stark Classified gene: CRLS1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.124 CRLS1 Zornitza Stark Gene: crls1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.123 CRLS1 Michelle Torres reviewed gene: CRLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35147173; Phenotypes: Mitochondrial disease MONDO:0044970 CRLS1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.123 CRLS1 Michelle Torres Deleted their review
Cardiomyopathy_Paediatric v0.123 CRLS1 Michelle Torres gene: CRLS1 was added
gene: CRLS1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLS1 were set to 35147173
Review for gene: CRLS1 was set to AMBER
Added comment: - Three families (4 individuals) with cardiolipin deficiency.
- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.
- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.
- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis

*Two individuals presented cardiac defects: one with LVNC, biventricular systolic dysfunction and evolved to HCM; the other one had biventricular dysfunction
Sources: Literature
Cardiomyopathy_Paediatric v0.123 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Cardiomyopathy_Paediatric v0.123 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.123 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Cardiomyopathy_Paediatric v0.122 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.122 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.121 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.121 FNIP1 Zornitza Stark Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Cardiomyopathy_Paediatric v0.120 FNIP1 Zornitza Stark edited their review of gene: FNIP1: Changed phenotypes: Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Cardiomyopathy_Paediatric v0.120 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Cardiomyopathy_Paediatric v0.119 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Cardiomyopathy_Paediatric v0.119 PPA2 Zornitza Stark Marked gene: PPA2 as ready
Cardiomyopathy_Paediatric v0.119 PPA2 Zornitza Stark Gene: ppa2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.119 PPA2 Zornitza Stark Publications for gene: PPA2 were set to 27523598
Cardiomyopathy_Paediatric v0.118 PPA2 Chirag Patel reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34400813; Phenotypes: Sudden cardiac failure, infantile, OMM # 617222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.118 MIB1 Zornitza Stark Publications for gene: MIB1 were set to
Cardiomyopathy_Paediatric v0.117 MIB1 Zornitza Stark Classified gene: MIB1 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.117 MIB1 Zornitza Stark Gene: mib1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.116 MIB1 Zornitza Stark edited their review of gene: MIB1: Changed rating: RED
Cardiomyopathy_Paediatric v0.116 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Cardiomyopathy_Paediatric v0.116 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.116 TAB2 Zornitza Stark Phenotypes for gene: TAB2 were changed from to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Cardiomyopathy_Paediatric v0.115 TAB2 Zornitza Stark Publications for gene: TAB2 were set to
Cardiomyopathy_Paediatric v0.114 TAB2 Zornitza Stark Mode of inheritance for gene: TAB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.113 TAB2 Zornitza Stark Classified gene: TAB2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.113 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.112 TAB2 Chern Lim reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cardiomyopathy_Paediatric v0.112 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Cardiomyopathy_Paediatric v0.112 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.112 COQ4 Zornitza Stark Classified gene: COQ4 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.112 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.111 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ4 were set to 25658047; 26185144; 33704555
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Review for gene: COQ4 was set to GREEN
Added comment: Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. HCM reported in multiple individuals. At least 9 unrelated families reported.
Sources: Expert Review
Cardiomyopathy_Paediatric v0.110 COA5 Zornitza Stark Marked gene: COA5 as ready
Cardiomyopathy_Paediatric v0.110 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.110 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial complex IV deficiency, 220110; syndromic HCM; Isolated complex IV deficiency; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Cardiomyopathy_Paediatric v0.109 COA5 Zornitza Stark Classified gene: COA5 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.109 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.108 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.108 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Cardiomyopathy_Paediatric v0.108 RAF1 Zornitza Stark Gene: raf1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.108 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from Noonan syndrome 5; Noonan syndrome 5 611553; LEOPARD syndrome 2 611554; syndromic HCM; LEOPARD syndrome 2; LEOPARD syndrome; Noonan syndrome to Cardiomyopathy, dilated, 1NN, MIM# 615916; Noonan syndrome 5, MIM# 611553
Cardiomyopathy_Paediatric v0.107 RAF1 Zornitza Stark Publications for gene: RAF1 were set to 17603482; 17603483
Cardiomyopathy_Paediatric v0.106 RAF1 Zornitza Stark reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24777450; Phenotypes: Cardiomyopathy, dilated, 1NN, MIM# 615916, Noonan syndrome 5, MIM# 611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.106 JPH2 Zornitza Stark Phenotypes for gene: JPH2 were changed from Cardiomyopathy, hypertrophic, MIM#613873 to Cardiomyopathy, hypertrophic, MIM#613873; Cardiomyopathy, dilated, 2E, MIM# 619492
Cardiomyopathy_Paediatric v0.105 JPH2 Zornitza Stark Publications for gene: JPH2 were set to 30681346; 17509612; 23973696; 26869393; 28393127; 30235249
Cardiomyopathy_Paediatric v0.104 JPH2 Zornitza Stark Mode of inheritance for gene: JPH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.103 JPH2 Zornitza Stark changed review comment from: MODERATE evidence by ClinGen working group.

Via ClinGen: Associated with hypertrophic cardiomyopathy in 16 probands in 5 publications with some functional evidence in support (expression studies, in vitro assays, animal models).

Conflicting evidence for missense variants in particular: one of the variants p.Gly505Ser is present in >500 individuals in gnomad, including 7 homozygotes, and another novel missense variant was observed in an 86-year-old man, diagnosed with hypertrophic cardiomyopathy, in whom echocardiography and cardiac magnetic resonance imaging strongly suggested amyloidosis to be the underlying cause.; to: Association with HCM: MODERATE evidence by ClinGen working group.

Via ClinGen: Associated with hypertrophic cardiomyopathy in 16 probands in 5 publications with some functional evidence in support (expression studies, in vitro assays, animal models).

Conflicting evidence for missense variants in particular: one of the variants p.Gly505Ser is present in >500 individuals in gnomad, including 7 homozygotes, and another novel missense variant was observed in an 86-year-old man, diagnosed with hypertrophic cardiomyopathy, in whom echocardiography and cardiac magnetic resonance imaging strongly suggested amyloidosis to be the underlying cause.
Cardiomyopathy_Paediatric v0.103 JPH2 Zornitza Stark edited their review of gene: JPH2: Added comment: Association with DCM: Several families with DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models. Onset in infancy reported.

MODERATE by ClinGen.; Changed publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249, 29540472, 31227780, 29165669, 27471098, 30384889, 31227780, 10949023, 23715556; Changed phenotypes: Cardiomyopathy, hypertrophic, MIM#613873, Cardiomyopathy, dilated, 2E, MIM# 619492; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.103 RNF220 Zornitza Stark Marked gene: RNF220 as ready
Cardiomyopathy_Paediatric v0.103 RNF220 Zornitza Stark Gene: rnf220 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.103 RNF220 Zornitza Stark Classified gene: RNF220 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.103 RNF220 Zornitza Stark Gene: rnf220 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.102 RNF220 Zornitza Stark gene: RNF220 was added
gene: RNF220 was added to Cardiomyopathy_Paediatric. Sources: Literature
founder tags were added to gene: RNF220.
Mode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF220 were set to 33964137; 10881263
Phenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Review for gene: RNF220 was set to GREEN
Added comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.

Other neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).

The authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).

Extensive segregation analyses were carried out including several affected and unaffected members.

RNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development

Evidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :
*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)
*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.
*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.
*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2).
*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.
*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.
*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies.
Sources: Literature
Cardiomyopathy_Paediatric v0.101 MYL2 Zornitza Stark Publications for gene: MYL2 were set to 23365102; 27378946; 32453731
Cardiomyopathy_Paediatric v0.100 MYL2 Zornitza Stark changed review comment from: Monoallelic variants in this gene are a well established as a cause of cardiomyopathy. Thirteen infants from 9 families reported with bi-allelic variants in last exon and an infantile skeletal myopathy/DCM phenotype. Dutch families all had same founder variant; one Italian family had two different variants. Additional family reported in PMID 32453731; to: Monoallelic variants in this gene are a well established as a cause of cardiomyopathy. Thirteen infants from 9 families reported with bi-allelic variants in last exon and an infantile skeletal myopathy/DCM phenotype. Dutch families all had same founder variant; one Italian family had two different variants. Two additional families reported in PMID 32453731 and 33731536
Cardiomyopathy_Paediatric v0.100 MYL2 Zornitza Stark edited their review of gene: MYL2: Changed publications: 23365102, 27378946, 32453731, 33731536
Cardiomyopathy_Paediatric v0.100 MYL2 Zornitza Stark Marked gene: MYL2 as ready
Cardiomyopathy_Paediatric v0.100 MYL2 Zornitza Stark Gene: myl2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.100 MYL2 Zornitza Stark Phenotypes for gene: MYL2 were changed from Cardiomyopathy, familial hypertrophic, 10 to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424; Cardiomyopathy, hypertrophic, 10, MIM# 608758
Cardiomyopathy_Paediatric v0.99 MYL2 Zornitza Stark Publications for gene: MYL2 were set to
Cardiomyopathy_Paediatric v0.98 MYL2 Zornitza Stark Mode of inheritance for gene: MYL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.97 MYL2 Zornitza Stark reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23365102, 27378946, 32453731; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424, Cardiomyopathy, hypertrophic, 10 608758; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.97 KIF20A Zornitza Stark Marked gene: KIF20A as ready
Cardiomyopathy_Paediatric v0.97 KIF20A Zornitza Stark Gene: kif20a has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.97 KIF20A Zornitza Stark gene: KIF20A was added
gene: KIF20A was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF20A were set to 29357359
Phenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM# 619433
Review for gene: KIF20A was set to RED
Added comment: Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene.
Sources: Literature
Cardiomyopathy_Paediatric v0.96 FHOD3 Zornitza Stark Marked gene: FHOD3 as ready
Cardiomyopathy_Paediatric v0.96 FHOD3 Zornitza Stark Gene: fhod3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.96 FHOD3 Zornitza Stark Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Cardiomyopathy_Paediatric v0.95 FHOD3 Zornitza Stark Publications for gene: FHOD3 were set to
Cardiomyopathy_Paediatric v0.94 FHOD3 Zornitza Stark Mode of inheritance for gene: FHOD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.93 FHOD3 Zornitza Stark reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32335906, 31742804, 30442288; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.93 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Cardiomyopathy_Paediatric v0.93 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.93 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Cardiomyopathy_Paediatric v0.92 NDUFB11 Kristin Rigbye reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cardiomyopathy_Paediatric v0.92 PPP1R13L Kristin Rigbye reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28069640, 32666529; Phenotypes: PPP1R13L-related syndrome, Dilated cardiomyopathy (severe infantile-onset); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.92 SLC30A5 Sue White Marked gene: SLC30A5 as ready
Cardiomyopathy_Paediatric v0.92 SLC30A5 Sue White Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.92 SLC30A5 Sue White Classified gene: SLC30A5 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.92 SLC30A5 Sue White Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.91 SLC30A5 Melanie Marty gene: SLC30A5 was added
gene: SLC30A5 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919
Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy
Review for gene: SLC30A5 was set to AMBER
Added comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia.
Sources: Literature
Cardiomyopathy_Paediatric v0.91 RPL3L Zornitza Stark Marked gene: RPL3L as ready
Cardiomyopathy_Paediatric v0.91 RPL3L Zornitza Stark Gene: rpl3l has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.91 RPL3L Zornitza Stark Classified gene: RPL3L as Green List (high evidence)
Cardiomyopathy_Paediatric v0.91 RPL3L Zornitza Stark Gene: rpl3l has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.90 RPL3L Zornitza Stark gene: RPL3L was added
gene: RPL3L was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to 32514796; 32870709
Phenotypes for gene: RPL3L were set to Cardiomyopathy, dilated, 2D, MIM# 619371; Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Cardiomyopathy_Paediatric v0.89 MCM10 Zornitza Stark Phenotypes for gene: MCM10 were changed from Restrictive cardiomyopathy to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Restrictive cardiomyopathy
Cardiomyopathy_Paediatric v0.88 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Restrictive cardiomyopathy
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Marked gene: SPEG as ready
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Gene: speg has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Classified gene: SPEG as Green List (high evidence)
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Gene: speg has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.87 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 32925938; 33794647
Phenotypes for gene: SPEG were set to Dilated cardiomyopathy; centronuclear myopathy
Review for gene: SPEG was set to GREEN
Added comment: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.
Sources: Literature
Cardiomyopathy_Paediatric v0.86 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Cardiomyopathy_Paediatric v0.86 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.86 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly to Coenzyme Q10 deficiency, primary, 5, MIM# 614654; dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly
Cardiomyopathy_Paediatric v0.85 COQ9 Zornitza Stark Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582
Cardiomyopathy_Paediatric v0.84 COQ9 Zornitza Stark Classified gene: COQ9 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.84 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.83 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM# 614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.83 MIPEP Zornitza Stark Marked gene: MIPEP as ready
Cardiomyopathy_Paediatric v0.83 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.83 MIPEP Zornitza Stark Phenotypes for gene: MIPEP were changed from cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts to Combined oxidative phosphorylation deficiency 31, MIM# 617228; cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts
Cardiomyopathy_Paediatric v0.82 MIPEP Zornitza Stark Classified gene: MIPEP as Green List (high evidence)
Cardiomyopathy_Paediatric v0.82 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.81 MIPEP Zornitza Stark reviewed gene: MIPEP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 31, MIM# 617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.81 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Cardiomyopathy_Paediatric v0.81 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.81 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI to Combined oxidative phosphorylation deficiency 5 , MIM#611719; hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI
Cardiomyopathy_Paediatric v0.80 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481
Cardiomyopathy_Paediatric v0.79 MRPS22 Zornitza Stark Classified gene: MRPS22 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.79 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.78 MRPS22 Zornitza Stark reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 5 , MIM#611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.78 MRPS14 Zornitza Stark Marked gene: MRPS14 as ready
Cardiomyopathy_Paediatric v0.78 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.78 MRPS14 Zornitza Stark Phenotypes for gene: MRPS14 were changed from hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability to Combined oxidative phosphorylation deficiency 38, MIM# 618378; hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability
Cardiomyopathy_Paediatric v0.77 MRPS14 Zornitza Stark Classified gene: MRPS14 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.77 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.76 MRPS14 Zornitza Stark reviewed gene: MRPS14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.76 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Cardiomyopathy_Paediatric v0.76 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.76 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities to Combined oxidative phosphorylation deficiency 17, MIM# 615440; cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities
Cardiomyopathy_Paediatric v0.75 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM# 615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.75 ELAC2 Zornitza Stark Classified gene: ELAC2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.75 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.74 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.74 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark edited their review of gene: UQCRFS1: Added comment: Functional evidence in addition to the two families reported, upgrade to Green.; Changed rating: GREEN
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark Phenotypes for gene: UQCRFS1 were changed from cardiomyopathy; thrombocytopenia; hypotonia to Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; cardiomyopathy; thrombocytopenia; hypotonia
Cardiomyopathy_Paediatric v0.72 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.72 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.71 UQCRFS1 Zornitza Stark reviewed gene: UQCRFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.71 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Cardiomyopathy_Paediatric v0.71 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.71 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros to Congenital disorder of glycosylation, type Ia, MIM# 212065; hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros
Cardiomyopathy_Paediatric v0.70 PMM2 Zornitza Stark Publications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235
Cardiomyopathy_Paediatric v0.69 PMM2 Zornitza Stark Classified gene: PMM2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.69 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.68 PMM2 Zornitza Stark reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28954837, 33388235; Phenotypes: Congenital disorder of glycosylation, type Ia, MIM# 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.68 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Cardiomyopathy_Paediatric v0.68 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.68 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration to HSD10 mitochondrial disease, MIM# 300438; intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration
Cardiomyopathy_Paediatric v0.67 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to PMID: 22127393 (review paper): PubMed: 20077426 (source paper)
Cardiomyopathy_Paediatric v0.66 HSD17B10 Zornitza Stark Classified gene: HSD17B10 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.66 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.65 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cardiomyopathy_Paediatric v0.65 COQ9 John Christodoulou gene: COQ9 was added
gene: COQ9 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582
Phenotypes for gene: COQ9 were set to dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly
Penetrance for gene: COQ9 were set to Complete
Review for gene: COQ9 was set to GREEN
Added comment: Multiple independent reports of cases with cardiomyopathy of LVNC as features

see OMIM 614654
Sources: Literature
Cardiomyopathy_Paediatric v0.65 MIPEP John Christodoulou gene: MIPEP was added
gene: MIPEP was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to PMID: 27799064
Phenotypes for gene: MIPEP were set to cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts
Penetrance for gene: MIPEP were set to Complete
Review for gene: MIPEP was set to GREEN
Added comment: 4 unrelated cases reported in one paper with functional supportive evidence

see OMIM 617228
Sources: Literature
Cardiomyopathy_Paediatric v0.65 MRPS22 John Christodoulou gene: MRPS22 was added
gene: MRPS22 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481
Phenotypes for gene: MRPS22 were set to hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI
Penetrance for gene: MRPS22 were set to Complete
Review for gene: MRPS22 was set to GREEN
Added comment: Three independent reports

the last report suggested the patient also had a Cornelia de Lange-like phenotype

see OMIM 611719
Sources: Literature
Cardiomyopathy_Paediatric v0.65 MRPS14 John Christodoulou gene: MRPS14 was added
gene: MRPS14 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to PMID: 30358850
Phenotypes for gene: MRPS14 were set to hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability
Penetrance for gene: MRPS14 were set to unknown
Review for gene: MRPS14 was set to RED
Added comment: 1 case reported in the paper above

see OMIM 618378
Sources: Literature
Cardiomyopathy_Paediatric v0.65 ELAC2 John Christodoulou gene: ELAC2 was added
gene: ELAC2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELAC2 were set to PMID: 23849775: PMID: 28441660
Phenotypes for gene: ELAC2 were set to cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities
Penetrance for gene: ELAC2 were set to Complete
Review for gene: ELAC2 was set to GREEN
Added comment: 5 cases from 3 unrelated families described in the first paper cited above

see OMIM 615440
Sources: Literature
Cardiomyopathy_Paediatric v0.65 UQCRFS1 John Christodoulou gene: UQCRFS1 was added
gene: UQCRFS1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to PMID: 31883641
Phenotypes for gene: UQCRFS1 were set to cardiomyopathy; thrombocytopenia; hypotonia
Penetrance for gene: UQCRFS1 were set to Complete
Review for gene: UQCRFS1 was set to AMBER
Added comment: I'd label this one as amber: two unrelated cases

see OMIM 618775
Sources: Literature
Cardiomyopathy_Paediatric v0.65 PMM2 John Christodoulou gene: PMM2 was added
gene: PMM2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235
Phenotypes for gene: PMM2 were set to hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros
Penetrance for gene: PMM2 were set to Complete
Review for gene: PMM2 was set to RED
Added comment: OMIM 212065

The two papers cited above are both review papers - the first describes a cohort of 96 patients - 9 had cardiomyopathy
Sources: Literature
Cardiomyopathy_Paediatric v0.65 HSD17B10 John Christodoulou gene: HSD17B10 was added
gene: HSD17B10 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HSD17B10 were set to PMID: 22127393 (review paper): PubMed: 20077426 (source paper)
Phenotypes for gene: HSD17B10 were set to intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration
Penetrance for gene: HSD17B10 were set to Incomplete
Review for gene: HSD17B10 was set to GREEN
Added comment: OMIM - 300438
Sources: Literature
Cardiomyopathy_Paediatric v0.65 RBCK1 Tiong Tan Publications for gene: RBCK1 were set to PMID: 7971833
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Marked gene: RBCK1 as ready
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Added comment: Comment when marking as ready: Need to add to immune superpanel
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Gene: rbck1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Classified gene: RBCK1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Gene: rbck1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.63 RBCK1 Tiong Tan reviewed gene: RBCK1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.63 RBCK1 John Christodoulou reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7971833: 23889995, 23798481; Phenotypes: myopathy, immunodeficiency, cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.63 RBCK1 John Christodoulou gene: RBCK1 was added
gene: RBCK1 was added to Cardiomyopathy_Paediatric. Sources: Other
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBCK1 were set to PMID: 7971833
Penetrance for gene: RBCK1 were set to Complete
Cardiomyopathy_Paediatric v0.63 MCM10 Zornitza Stark Marked gene: MCM10 as ready
Cardiomyopathy_Paediatric v0.63 MCM10 Zornitza Stark Gene: mcm10 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.63 MCM10 Zornitza Stark gene: MCM10 was added
gene: MCM10 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM10 were set to 32865517; 33712616
Phenotypes for gene: MCM10 were set to Restrictive cardiomyopathy
Review for gene: MCM10 was set to RED
Added comment: PMID 33712616: three affected sibs with restrictive cardiomyopathy and hypoplasia of the spleen and thymus. Functional data suggested that MCM10 deficiency causes chronic replication stress that reduces cell viability due to increased genomic instability and telomere erosion.
Sources: Literature
Cardiomyopathy_Paediatric v0.62 MIB1 Ain Roesley changed review comment from: PMID: 30322850
4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)
Only W271G and the fs demonstrated reduced NOTCh signaling
Mutant zebrafish were evaluated for degree of malformation

Association with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real

NO association with DCM by clingen; to: CHD: PMID: 30322850
4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)
Only W271G and the fs demonstrated reduced NOTCh signaling
Mutant zebrafish were evaluated for degree of malformation

Association with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real

NO association with DCM by clingen
Cardiomyopathy_Paediatric v0.62 MIB1 Zornitza Stark Marked gene: MIB1 as ready
Cardiomyopathy_Paediatric v0.62 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.62 MIB1 Zornitza Stark Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 to Left ventricular noncompaction 7, MIM# 615092; cardiomyopathy
Cardiomyopathy_Paediatric v0.61 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.61 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.60 MIB1 Zornitza Stark reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057; Phenotypes: Left ventricular noncompaction 7, MIM# 615092, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.60 MIB1 Ain Roesley changed review comment from: PMID: 30322850
4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)
Only W271G and the fs demonstrated reduced NOTCh signaling
Mutant zebrafish were evaluated for degree of malformation

Associated with LVNC disputed by clingen
NO association with DCM by clingen; to: PMID: 30322850
4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)
Only W271G and the fs demonstrated reduced NOTCh signaling
Mutant zebrafish were evaluated for degree of malformation

Association with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real

NO association with DCM by clingen
Cardiomyopathy_Paediatric v0.60 MIB1 Ain Roesley edited their review of gene: MIB1: Changed publications: 30322850, 23314057
Cardiomyopathy_Paediatric v0.60 MIB1 Ain Roesley reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30322850; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.60 FLII Zornitza Stark changed review comment from: Two unrelated families reported with homozygous missense variants. Emerging evidence.
Sources: Literature; to: Two unrelated families reported with homozygous missense variants. Emerging evidence: we are aware of two more families.
Sources: Literature
Cardiomyopathy_Paediatric v0.60 FLII Zornitza Stark edited their review of gene: FLII: Changed rating: GREEN
Cardiomyopathy_Paediatric v0.60 FLII Zornitza Stark Publications for gene: FLII were set to 32870709
Cardiomyopathy_Paediatric v0.59 FLII Zornitza Stark Classified gene: FLII as Green List (high evidence)
Cardiomyopathy_Paediatric v0.59 FLII Zornitza Stark Gene: flii has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.58 FLII Elena Savva reviewed gene: FLII: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32870709, 11971982, 32980309; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.58 FLII Zornitza Stark Marked gene: FLII as ready
Cardiomyopathy_Paediatric v0.58 FLII Zornitza Stark Gene: flii has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.58 FLII Zornitza Stark Classified gene: FLII as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.58 FLII Zornitza Stark Gene: flii has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.57 FLII Zornitza Stark gene: FLII was added
gene: FLII was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 32870709
Phenotypes for gene: FLII were set to Dilated cardiomyopathy
Review for gene: FLII was set to AMBER
Added comment: Two unrelated families reported with homozygous missense variants. Emerging evidence.
Sources: Literature
Cardiomyopathy_Paediatric v0.56 RHBDF1 Zornitza Stark Marked gene: RHBDF1 as ready
Cardiomyopathy_Paediatric v0.56 RHBDF1 Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.56 RHBDF1 Zornitza Stark Classified gene: RHBDF1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.56 RHBDF1 Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.55 RHBDF1 Zornitza Stark gene: RHBDF1 was added
gene: RHBDF1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHBDF1 were set to 32870709
Phenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy
Review for gene: RHBDF1 was set to AMBER
Added comment: Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant.
Sources: Literature
Cardiomyopathy_Paediatric v0.54 MYLK3 Zornitza Stark Marked gene: MYLK3 as ready
Cardiomyopathy_Paediatric v0.54 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.54 MYLK3 Zornitza Stark Classified gene: MYLK3 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.54 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.53 MYLK3 Zornitza Stark gene: MYLK3 was added
gene: MYLK3 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709
Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy
Review for gene: MYLK3 was set to AMBER
Added comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: Literature
Cardiomyopathy_Paediatric v0.52 NRAP Zornitza Stark Marked gene: NRAP as ready
Cardiomyopathy_Paediatric v0.52 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.52 NRAP Zornitza Stark Classified gene: NRAP as Green List (high evidence)
Cardiomyopathy_Paediatric v0.52 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.51 NRAP Zornitza Stark gene: NRAP was added
gene: NRAP was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709
Phenotypes for gene: NRAP were set to Dilated cardiomyopathy
Review for gene: NRAP was set to GREEN
Added comment: Twenty unrelated families reported with childhood onset DCM.
Sources: Literature
Cardiomyopathy_Paediatric v0.50 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Cardiomyopathy_Paediatric v0.50 PLD1 Zornitza Stark Gene: pld1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.50 PLD1 Zornitza Stark Classified gene: PLD1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.50 PLD1 Zornitza Stark Gene: pld1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.49 PLD1 Zornitza Stark Tag founder tag was added to gene: PLD1.
Cardiomyopathy_Paediatric v0.49 PLD1 Zornitza Stark gene: PLD1 was added
gene: PLD1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 27799408; 33645542
Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy
Review for gene: PLD1 was set to GREEN
Added comment: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).
Sources: Literature
Cardiomyopathy_Paediatric v0.48 NAA15 Zornitza Stark Marked gene: NAA15 as ready
Cardiomyopathy_Paediatric v0.48 NAA15 Zornitza Stark Gene: naa15 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.48 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from Intellectual disability; cardiomyopathy to Mental retardation, autosomal dominant 50, MIM# 617787; cardiomyopathy
Cardiomyopathy_Paediatric v0.47 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from to Intellectual disability; cardiomyopathy
Cardiomyopathy_Paediatric v0.46 NAA15 Zornitza Stark Publications for gene: NAA15 were set to
Cardiomyopathy_Paediatric v0.45 NAA15 Zornitza Stark Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.44 NAA15 Zornitza Stark reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.44 NAA15 Tiong Tan reviewed gene: NAA15: Rating: RED; Mode of pathogenicity: None; Publications: 33103328; Phenotypes: ID, cardiac; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.44 DOLK Zornitza Stark Publications for gene: DOLK were set to 17273964; 22242004; 23890587
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark Marked gene: DOLK as ready
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Cardiomyopathy_Paediatric v0.42 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Cardiomyopathy_Paediatric v0.41 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Cardiomyopathy_Paediatric v0.41 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Cardiomyopathy_Paediatric v0.41 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.41 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from 618810 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810; perinatal cardiomyopathy; cataracts; corneal clouding
Cardiomyopathy_Paediatric v0.40 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to PMID: 32004445
Cardiomyopathy_Paediatric v0.39 ATAD3A Zornitza Stark Tag SV/CNV tag was added to gene: ATAD3A.
Cardiomyopathy_Paediatric v0.39 ATAD3A Zornitza Stark Classified gene: ATAD3A as Green List (high evidence)
Cardiomyopathy_Paediatric v0.39 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.38 ATAD3A John Christodoulou reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32004445, PMID: 27640307, PMID: 28549128, also Frazier et al, Med (in press); Phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810, perinatal cardiomyopathy, cataracts, corneal clouding; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.38 ATAD3A John Christodoulou gene: ATAD3A was added
gene: ATAD3A was added to Cardiomyopathy_Paediatric. Sources: Literature,Expert Review
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to PMID: 32004445
Phenotypes for gene: ATAD3A were set to 618810
Penetrance for gene: ATAD3A were set to Complete
Cardiomyopathy_Paediatric v0.38 NDUFA4 Zornitza Stark Marked gene: NDUFA4 as ready
Cardiomyopathy_Paediatric v0.38 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.38 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065
Cardiomyopathy_Paediatric v0.37 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to 23746447, 29636225
Cardiomyopathy_Paediatric v0.36 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.36 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.35 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: RED; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.35 COX14 Zornitza Stark Marked gene: COX14 as ready
Cardiomyopathy_Paediatric v0.35 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.35 COX14 Zornitza Stark Phenotypes for gene: COX14 were changed from ?Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
Cardiomyopathy_Paediatric v0.34 COX14 Zornitza Stark Publications for gene: COX14 were set to
Cardiomyopathy_Paediatric v0.33 COX14 Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.33 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.32 COX14 Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.32 COX6B1 Zornitza Stark Marked gene: COX6B1 as ready
Cardiomyopathy_Paediatric v0.32 COX6B1 Zornitza Stark Gene: cox6b1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.32 COX6B1 Zornitza Stark Phenotypes for gene: COX6B1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Cardiomyopathy_Paediatric v0.31 COX6B1 Zornitza Stark Publications for gene: COX6B1 were set to
Cardiomyopathy_Paediatric v0.30 COX6B1 Zornitza Stark Classified gene: COX6B1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.30 COX6B1 Zornitza Stark Gene: cox6b1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.29 COX6B1 Zornitza Stark reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.29 SCO1 Zornitza Stark Classified gene: SCO1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.29 SCO1 Zornitza Stark Gene: sco1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.28 SCO1 Zornitza Stark Marked gene: SCO1 as ready
Cardiomyopathy_Paediatric v0.28 SCO1 Zornitza Stark Gene: sco1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.28 SCO1 Zornitza Stark Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048
Cardiomyopathy_Paediatric v0.27 SCO1 Zornitza Stark Publications for gene: SCO1 were set to
Cardiomyopathy_Paediatric v0.26 SCO1 Zornitza Stark reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11013136, 19295170, 31352446, 23878101; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.26 PPP1R13L Zornitza Stark Marked gene: PPP1R13L as ready
Cardiomyopathy_Paediatric v0.26 PPP1R13L Zornitza Stark Gene: ppp1r13l has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.26 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from cardio-cutaneous syndrome; sudden cardiac death to Dilated cardiomyopathy, onset in infancy
Cardiomyopathy_Paediatric v0.25 PPP1R13L Zornitza Stark Publications for gene: PPP1R13L were set to 25691752; 19016676; 28069640; 15661756; 28864777
Cardiomyopathy_Paediatric v0.24 PPP1R13L Zornitza Stark reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 32666529, 28864777; Phenotypes: Dilated cardiomyopathy, onset in infancy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.24 PDLIM3 Zornitza Stark Marked gene: PDLIM3 as ready
Cardiomyopathy_Paediatric v0.24 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.24 PDLIM3 Zornitza Stark Phenotypes for gene: PDLIM3 were changed from to Hypertrophic cardiomyopathy
Cardiomyopathy_Paediatric v0.23 PDLIM3 Zornitza Stark Publications for gene: PDLIM3 were set to 25163546
Cardiomyopathy_Paediatric v0.22 PDLIM3 Zornitza Stark Classified gene: PDLIM3 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.22 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.21 PDLIM3 Zornitza Stark reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: None; Publications: 30681346, 26455666, 20801532; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.21 JPH2 Zornitza Stark Marked gene: JPH2 as ready
Cardiomyopathy_Paediatric v0.21 JPH2 Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.21 JPH2 Zornitza Stark Phenotypes for gene: JPH2 were changed from to Cardiomyopathy, hypertrophic, MIM#613873
Cardiomyopathy_Paediatric v0.20 JPH2 Zornitza Stark Publications for gene: JPH2 were set to
Cardiomyopathy_Paediatric v0.19 JPH2 Zornitza Stark Classified gene: JPH2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.19 JPH2 Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.18 JPH2 Zornitza Stark reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.18 SHMT2 Zornitza Stark Marked gene: SHMT2 as ready
Cardiomyopathy_Paediatric v0.18 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.18 SHMT2 Zornitza Stark Classified gene: SHMT2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.18 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.17 SHMT2 Zornitza Stark gene: SHMT2 was added
gene: SHMT2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Review for gene: SHMT2 was set to GREEN
Added comment: García‑Cazorla et al. (2020 - PMID: 33015733) report 5 individuals (from 4 families) with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants.

All affected subjects presented similar phenotype incl. microcephaly at birth (5/5 with OFC < -2 SD though in 2/5 cases N OFC was observed later), DD and ID (1/5 mild-moderate, 1/5 moderate, 3/5 severe), motor dysfunction in the form of spastic (5/5) paraparesis, ataxia/dysmetria (3/4), intention tremor (in 3/?) and/or peripheral neuropathy (2 sibs). They exhibited corpus callosum hypoplasia (5/5) and perisylvian microgyria-like pattern (4/5). Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Common dysmorphic features incl. long palpebral/fissures, eversion of lateral third of lower eylids, arched eyebrows, long eyelashes, thin upper lip, short Vth finger, fetal pads, mild 2-3 toe syndactyly, proximally placed thumbs.

Biallelic variants were identified following exome sequencing in all (other investigations not mentioned). Identified variants were in all cases missense SNVs or in-frame del, which together with evidence from population databases and mouse model might suggest a hypomorphic effect of variants and intolerance/embryonic lethality for homozygous LoF ones.

SHMT2 encodes the mitohondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF.

Mitochondrial defect was suggested by presence of ragged red fibers in myocardial biopsy of one patient. Quadriceps and myocardial biopsies of the same individual were overall suggestive of myopathic changes.

While plasma metabolites were within N range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts , decrease in glycine/serine ratios, impared folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction.

Shmt2 ko in mice was previously shown to be embryonically lethal attributed to severe mitochondrial respiration defects, although there was no observed brain metabolic defect.

The authors performed Shmt2 knockdown in motoneurons in Drosophila, demonstrating neuromuscular junction (# of satellite boutons) and motility defects (climbing distance/velocity).
Sources: Literature
Cardiomyopathy_Paediatric v0.16 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Cardiomyopathy_Paediatric v0.16 PGM1 Zornitza Stark Added comment: Comment when marking as ready: Severe cardiomyopathy can be a feature.
Cardiomyopathy_Paediatric v0.16 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.16 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation to Congenital disorder of glycosylation, type It, MIM# 614921; Dilated cardiomyopathy
Cardiomyopathy_Paediatric v0.15 PGM1 Zornitza Stark Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750
Cardiomyopathy_Paediatric v0.14 PGM1 Zornitza Stark Classified gene: PGM1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.14 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.13 PGM1 Sarah Donoghue gene: PGM1 was added
gene: PGM1 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750
Phenotypes for gene: PGM1 were set to Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation
Penetrance for gene: PGM1 were set to Complete
Review for gene: PGM1 was set to GREEN
gene: PGM1 was marked as current diagnostic
Added comment: Mixed type disorder of glycosylation - may have type I/II pattern
Often glycosylation abnormalities less prominent in adulthood
May also normalise with high milk intake

Abnormalities of coagulation, hypothyroidism, hypogonadotrophic hypogonadism, hypoglycaemia, can have abnormal IGF1, IGFB3

This condition is treatable with galactose - may correct glycosylation abnormalities
Sources: Expert Review
Cardiomyopathy_Paediatric v0.13 EYA4 Zornitza Stark Marked gene: EYA4 as ready
Cardiomyopathy_Paediatric v0.13 EYA4 Zornitza Stark Gene: eya4 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.13 EYA4 Zornitza Stark Phenotypes for gene: EYA4 were changed from Cardiomyopathy, dilated, 1J to Cardiomyopathy, dilated, 1J, MIM# 605362
Cardiomyopathy_Paediatric v0.12 EYA4 Zornitza Stark Publications for gene: EYA4 were set to
Cardiomyopathy_Paediatric v0.11 EYA4 Zornitza Stark reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10769282, 30155266; Phenotypes: Cardiomyopathy, dilated, 1J, MIM# 605362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.10 FNIP1 Zornitza Stark gene: FNIP1 was added
gene: FNIP1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Cardiomyopathy_Paediatric v0.9 KRAS Zornitza Stark Marked gene: KRAS as ready
Cardiomyopathy_Paediatric v0.9 KRAS Zornitza Stark Gene: kras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.9 KRAS Zornitza Stark Phenotypes for gene: KRAS were changed from Noonan syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 2 615278; Cardiofaciocutaneous syndrome 2; CFC syndrome; Noonan syndrome; Noonan syndrome 3 609942 to Cardiofaciocutaneous syndrome 2, MIM# 615278; Noonan syndrome 3, MIM# 609942
Cardiomyopathy_Paediatric v0.8 BRAF Zornitza Stark Marked gene: BRAF as ready
Cardiomyopathy_Paediatric v0.8 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.8 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3; Noonan Syndrome; LEOPARD syndrome 3 613707 to Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM
Cardiomyopathy_Paediatric v0.7 MRPL44 Zornitza Stark Marked gene: MRPL44 as ready
Cardiomyopathy_Paediatric v0.7 MRPL44 Zornitza Stark Gene: mrpl44 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.7 MRPL44 Zornitza Stark Phenotypes for gene: MRPL44 were changed from Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 16, 615395
Cardiomyopathy_Paediatric v0.6 MRPL44 Zornitza Stark Phenotypes for gene: MRPL44 were changed from ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Cardiomyopathy_Paediatric v0.5 MRPL44 Zornitza Stark Publications for gene: MRPL44 were set to
Cardiomyopathy_Paediatric v0.4 MRPL44 Zornitza Stark reviewed gene: MRPL44: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315540, 25797485; Phenotypes: Combined oxidative phosphorylation deficiency 16, MIM# 615395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.4 RRAGC Zornitza Stark Marked gene: RRAGC as ready
Cardiomyopathy_Paediatric v0.4 RRAGC Zornitza Stark Gene: rragc has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.4 RRAGC Zornitza Stark Classified gene: RRAGC as Red List (low evidence)
Cardiomyopathy_Paediatric v0.4 RRAGC Zornitza Stark Gene: rragc has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.3 RRAGC Zornitza Stark reviewed gene: RRAGC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cardiomyopathy_Paediatric v0.3 RRAGC Elena Savva gene: RRAGC was added
gene: RRAGC was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAGC were set to PMID: 29367541; 27234373
Phenotypes for gene: RRAGC were set to Pediatric Dilated Cardiomyopathy
Mode of pathogenicity for gene: RRAGC was set to Other
Review for gene: RRAGC was set to AMBER
Added comment: PMID: 29367541 - 1 de novo patient (missense) w/ paediatric cardiomyopathy

PMID: 27234373 - same de novo missense as above, functional studies show a GOF mechanism

MIssense variant is absent from the population (gnomAD) and in a highly constrained region (Decipher)
Sources: Literature
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Marked gene: MRAS as ready
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Classified gene: MRAS as Green List (high evidence)
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.2 MRAS Zornitza Stark gene: MRAS was added
gene: MRAS was added to Cardiomyopathy_Paediatric. Sources: Expert list
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466
Phenotypes for gene: MRAS were set to Noonan syndrome, MIM#618499
Review for gene: MRAS was set to GREEN
Added comment: At least 6 unrelated individuals reported with NS, cardiomyopathy specifically reported
Sources: Expert list
Cardiomyopathy_Paediatric v0.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.0 SLC25A4 Paul De Fazio reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: 16155110; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cardiomyopathy_Paediatric v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRB were set to 12709789; 25446085; 28604960
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158
Cardiomyopathy_Paediatric v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157
Cardiomyopathy_Paediatric v0.0 TMPO Zornitza Stark gene: TMPO was added
gene: TMPO was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMPO were set to Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia 1
Cardiomyopathy_Paediatric v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCAP were set to 21530252; 23479141
Phenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N
Cardiomyopathy_Paediatric v0.0 TACO1 Zornitza Stark gene: TACO1 was added
gene: TACO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: TAB2 was set to Unknown
Cardiomyopathy_Paediatric v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,Expert Review Red
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 19366998; 19443465; 21649642; 21548021; 17704776
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Cardiomyopathy_Paediatric v0.0 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.0 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Cardiomyopathy_Paediatric v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Victorian Clinical Genetics Services,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392
Cardiomyopathy_Paediatric v0.0 NDUFA9 Zornitza Stark gene: NDUFA9 was added
gene: NDUFA9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA9 were set to 28671271; 22114105
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Cardiomyopathy_Paediatric v0.0 NDUFA6 Zornitza Stark gene: NDUFA6 was added
gene: NDUFA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253
Cardiomyopathy_Paediatric v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM7 were set to 29353736
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838
Cardiomyopathy_Paediatric v0.0 LAMA4 Zornitza Stark gene: LAMA4 was added
gene: LAMA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.0 ILK Zornitza Stark gene: ILK was added
gene: ILK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: ILK was set to Unknown
Cardiomyopathy_Paediatric v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNS were set to 27604308
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
Cardiomyopathy_Paediatric v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, 149400
Cardiomyopathy_Paediatric v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH,MetBioNet
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 27604308
Phenotypes for gene: GBE1 were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen storage disease IV, 232500; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; DCM; Polyglucosan body disease, adult form, 263570; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; Hypertrophic-hypocontractile cardiomyopathy; Glycogen Storage Disease
Cardiomyopathy_Paediatric v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNS were set to 27604308
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis Type IVA; MPS IVA, Morquio A disease (MPS IV, Morquio disease); MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis IVA, 253000
Cardiomyopathy_Paediatric v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 24816252; 27604308
Phenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIC; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); HCM; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C
Cardiomyopathy_Paediatric v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27604308
Phenotypes for gene: ETFB were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); HCM; Glutaric acidemia IIB; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
Cardiomyopathy_Paediatric v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 27604308
Phenotypes for gene: ETFA were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIA; Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); HCM; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
Cardiomyopathy_Paediatric v0.0 DTNA Zornitza Stark gene: DTNA was added
gene: DTNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects,
Cardiomyopathy_Paediatric v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 27604308
Phenotypes for gene: DHCR7 were set to Cataracts; Intellectual disability; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities
Cardiomyopathy_Paediatric v0.0 CYC1 Zornitza Stark gene: CYC1 was added
gene: CYC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453
Cardiomyopathy_Paediatric v0.0 CTF1 Zornitza Stark gene: CTF1 was added
gene: CTF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 24816252; 27604308
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Cardiomyopathy_Paediatric v0.0 COX6A1 Zornitza Stark gene: COX6A1 was added
gene: COX6A1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Cardiomyopathy_Paediatric v0.0 COA7 Zornitza Stark gene: COA7 was added
gene: COA7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 29718187; 27683825
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Cardiomyopathy_Paediatric v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: BTK was set to Unknown
Cardiomyopathy_Paediatric v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000
Cardiomyopathy_Paediatric v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 27604308
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Cardiomyopathy_Paediatric v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 ANKRD1 Zornitza Stark gene: ANKRD1 was added
gene: ANKRD1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD1 were set to Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 UQCC2 Zornitza Stark gene: UQCC2 was added
gene: UQCC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC2 were set to 28804536; 24385928
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824
Cardiomyopathy_Paediatric v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 27604308
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III
Cardiomyopathy_Paediatric v0.0 RASA2 Zornitza Stark gene: RASA2 was added
gene: RASA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Amber
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA2 were set to PMID: 25049390
Phenotypes for gene: RASA2 were set to Noonan syndrome?
Cardiomyopathy_Paediatric v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 NDUFB8 Zornitza Stark gene: NDUFB8 was added
gene: NDUFB8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB8 were set to 29429571; 27290639
Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252
Cardiomyopathy_Paediatric v0.0 NDUFA4 Zornitza Stark gene: NDUFA4 was added
gene: NDUFA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA4 were set to 23746447, 29636225
Phenotypes for gene: NDUFA4 were set to No OMIM phenotype
Cardiomyopathy_Paediatric v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 27604308
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB
Cardiomyopathy_Paediatric v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 MT-TI Zornitza Stark gene: MT-TI was added
gene: MT-TI was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Cardiomyopathy_Paediatric v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber,MetBioNet
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308
Phenotypes for gene: MMACHC were set to Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; DCM; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Hypertrophic-hypocontractile cardiomyopathy
Cardiomyopathy_Paediatric v0.0 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C
Cardiomyopathy_Paediatric v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGSNAT were set to 27604308; 21048366
Phenotypes for gene: HGSNAT were set to MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis Pigmentosa 73
Cardiomyopathy_Paediatric v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 27604308
Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hemochromatosis; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); DCM; Haemochromatosis; Iron overload, liver disease, diabetes, hypogonadism; HCM; Hypertrophic-hypocontractile cardiomyopathy
Cardiomyopathy_Paediatric v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Amber,NHS GMS,South West GLH
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 27604308
Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry disease, 301500; Fabry Disease; HCM; syndromic HCM; Limb pain, angiokeratom; Fabry disease; HCM is a late complication in adults, also found in female carriers
Cardiomyopathy_Paediatric v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241
Cardiomyopathy_Paediatric v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 FASTKD2 Zornitza Stark gene: FASTKD2 was added
gene: FASTKD2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 EYA4 Zornitza Stark gene: EYA4 was added
gene: EYA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Amber
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA4 were set to Cardiomyopathy, dilated, 1J
Cardiomyopathy_Paediatric v0.0 CRYAB Zornitza Stark gene: CRYAB was added
gene: CRYAB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were set to Cardiomyopathy, dilated, 1II,; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869
Cardiomyopathy_Paediatric v0.0 COX7B Zornitza Stark gene: COX7B was added
gene: COX7B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887
Cardiomyopathy_Paediatric v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 VCL Zornitza Stark gene: VCL was added
gene: VCL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W
Cardiomyopathy_Paediatric v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 31118583; 31131842; 31111153; 30878017; 30120737
Phenotypes for gene: TTR were set to syndromic HCM
Cardiomyopathy_Paediatric v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739
Phenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G
Cardiomyopathy_Paediatric v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSFM were set to 27604308
Phenotypes for gene: TSFM were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 3, 610505; Combined oxidative phosphorylation deficiency 3 610505
Cardiomyopathy_Paediatric v0.0 TPM1 Zornitza Stark gene: TPM1 was added
gene: TPM1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9,; Cardiomyopathy, dilated, 1Y; Cardiomyopathy, familial hypertrophic, 3
Cardiomyopathy_Paediatric v0.0 TNNT2 Zornitza Stark gene: TNNT2 was added
gene: TNNT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6,
Cardiomyopathy_Paediatric v0.0 TNNI3K Zornitza Stark gene: TNNI3K was added
gene: TNNI3K was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Cardiomyopathy_Paediatric v0.0 TNNI3 Zornitza Stark gene: TNNI3 was added
gene: TNNI3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 2A,; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Hypertrophic cardiomyopathy
Cardiomyopathy_Paediatric v0.0 TNNC1 Zornitza Stark gene: TNNC1 was added
gene: TNNC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, familial hypertrophic, 13,; Cardiomyopathy, dilated, 1Z
Cardiomyopathy_Paediatric v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Cardiomyopathy_Paediatric v0.0 TMEM43 Zornitza Stark gene: TMEM43 was added
gene: TMEM43 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302
Cardiomyopathy_Paediatric v0.0 TMEM126B Zornitza Stark gene: TMEM126B was added
gene: TMEM126B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126B were set to 27374773; 27374774
Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250
Cardiomyopathy_Paediatric v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 27604308
Phenotypes for gene: TAZ were set to Barth syndrome, 302060; Dilated Cardiomyopathy, X-Linked; Left Ventricular Noncompaction Cardiomyopathy; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial lipid metabolism; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Barth syndrome
Cardiomyopathy_Paediatric v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Cardiomyopathy_Paediatric v0.0 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 26173643; 25795793
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559; Noonan syndrome 9
Mode of pathogenicity for gene: SOS2 was set to Other - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837
Phenotypes for gene: SOS1 were set to Noonan syndrome; Noonan syndrome 4; Noonan syndrome 4 610733; syndromic HCM
Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 27604308
Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Hypertrophic cardiomyopathy; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
Cardiomyopathy_Paediatric v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 27604308
Phenotypes for gene: SLC25A20 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM
Cardiomyopathy_Paediatric v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 24816252; 27604308
Phenotypes for gene: SLC22A5 were set to HCM, mixed; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; DCM; Carnitine transporter deficiency (primary carnitine deficiency); Propionicacidemia
Cardiomyopathy_Paediatric v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair; syndromic HCM
Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCD were set to 10735275; 18779423; 23900355
Phenotypes for gene: SGCD were set to Cardiomyopathy, dilated, 1L, 606685
Cardiomyopathy_Paediatric v0.0 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHD were set to 26008905; 24367056
Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011
Cardiomyopathy_Paediatric v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHAF1 were set to 19465911; 26642834; 22995659
Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011
Cardiomyopathy_Paediatric v0.0 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHA were set to 27604308
Phenotypes for gene: SDHA were set to Cardiomyopathy, dilated, 1GG; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Paragangliomas 5, 614165; Isolated complex II deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Cardiomyopathy, dilated, 1GG, 613642
Cardiomyopathy_Paediatric v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 27604308
Phenotypes for gene: SCO2 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; syndromic HCM; Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Cardiomyopathy_Paediatric v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN5A were set to doi:10. 1007/ s12265-016-9673-5; 24317018
Phenotypes for gene: SCN5A were set to Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Cardiomyopathy, dilated, 1E; Long QT syndrome
Cardiomyopathy_Paediatric v0.0 RYR2 Zornitza Stark gene: RYR2 was added
gene: RYR2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/
Phenotypes for gene: RYR2 were set to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 2, 600996
Cardiomyopathy_Paediatric v0.0 RIT1 Zornitza Stark gene: RIT1 was added
gene: RIT1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RIT1 were set to 23791108; 24939608; 25124994
Phenotypes for gene: RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8; Noonan syndrome 8 615355
Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 RBM20 Zornitza Stark gene: RBM20 was added
gene: RBM20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD
Cardiomyopathy_Paediatric v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAF1 were set to 17603482; 17603483
Phenotypes for gene: RAF1 were set to Noonan syndrome 5; Noonan syndrome 5 611553; LEOPARD syndrome 2 611554; syndromic HCM; LEOPARD syndrome 2; LEOPARD syndrome; Noonan syndrome
Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 16263833; 12634870; 18678287; 15384080; 15240615; 11704759; 17603483; 17497712; 12529711
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome 1 163950; LEOPARD syndrome 1 151100; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome; Noonan syndrome
Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to Cardiomyopathy_Paediatric. Sources: London South GLHSouth West GLH,NHS GMS,Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 194200
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM
Cardiomyopathy_Paediatric v0.0 PPP1R13L Zornitza Stark gene: PPP1R13L was added
gene: PPP1R13L was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 25691752; 19016676; 28069640; 15661756; 28864777
Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death
Cardiomyopathy_Paediatric v0.0 PPP1CB Zornitza Stark gene: PPP1CB was added
gene: PPP1CB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673; 28211982; 27681385
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506
Cardiomyopathy_Paediatric v0.0 PPCS Zornitza Stark gene: PPCS was added
gene: PPCS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, 618189
Cardiomyopathy_Paediatric v0.0 PPA2 Zornitza Stark gene: PPA2 was added
gene: PPA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523598
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222
Cardiomyopathy_Paediatric v0.0 PNPLA2 Zornitza Stark gene: PNPLA2 was added
gene: PNPLA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA2 were set to DCM; Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes; Neutral lipid storage disease with myopathy NLSDM
Cardiomyopathy_Paediatric v0.0 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic, 18,; Cardiomyopathy, dilated, 1P
Cardiomyopathy_Paediatric v0.0 PKP2 Zornitza Stark gene: PKP2 was added
gene: PKP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy_Paediatric v0.0 PDLIM3 Zornitza Stark gene: PDLIM3 was added
gene: PDLIM3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDLIM3 were set to 25163546
Cardiomyopathy_Paediatric v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 27604308
Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; Propionicacidemia
Cardiomyopathy_Paediatric v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 27604308
Phenotypes for gene: PCCA were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic acidemia; Propionicacidemia 606054; Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; Propionicacidemia
Cardiomyopathy_Paediatric v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242
Cardiomyopathy_Paediatric v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 19775298; 19966803
Phenotypes for gene: NRAS were set to Noonan syndrome 6 613224; CFC Syndrome; Cardio-Facio-cutanenous syndrome; syndromic HCM; Noonan syndrome 6; Noonan syndrome
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 NONO Zornitza Stark gene: NONO was added
gene: NONO was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cardiomyopathy_Paediatric v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-5 were set to Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Cardiomyopathy_Paediatric v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 16380919; 19845691; 12707950
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200; Neurofibromatosis Noonan syndrome; Neurofibromatosis syndrome 1; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis-Noonan Syndrome; Noonan syndrome
Cardiomyopathy_Paediatric v0.0 NEXN Zornitza Stark gene: NEXN was added
gene: NEXN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic, 20,; Cardiomyopathy, dilated, 1CC
Cardiomyopathy_Paediatric v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229
Cardiomyopathy_Paediatric v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, 618225
Cardiomyopathy_Paediatric v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I deficiency, nuclear type 2, 618222
Cardiomyopathy_Paediatric v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224
Cardiomyopathy_Paediatric v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, nuclear type 9, 618232
Cardiomyopathy_Paediatric v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency, nuclear type 1, 252010
Cardiomyopathy_Paediatric v0.0 NDUFS3 Zornitza Stark gene: NDUFS3 was added
gene: NDUFS3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8, 618230
Cardiomyopathy_Paediatric v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6, 618228
Cardiomyopathy_Paediatric v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226
Cardiomyopathy_Paediatric v0.0 NDUFB3 Zornitza Stark gene: NDUFB3 was added
gene: NDUFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246
Cardiomyopathy_Paediatric v0.0 NDUFB11 Zornitza Stark gene: NDUFB11 was added
gene: NDUFB11 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021
Cardiomyopathy_Paediatric v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238
Cardiomyopathy_Paediatric v0.0 NDUFAF4 Zornitza Stark gene: NDUFAF4 was added
gene: NDUFAF4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237
Cardiomyopathy_Paediatric v0.0 NDUFAF3 Zornitza Stark gene: NDUFAF3 was added
gene: NDUFAF3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240
Cardiomyopathy_Paediatric v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233
Cardiomyopathy_Paediatric v0.0 NDUFAF1 Zornitza Stark gene: NDUFAF1 was added
gene: NDUFAF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234
Cardiomyopathy_Paediatric v0.0 NDUFA2 Zornitza Stark gene: NDUFA2 was added
gene: NDUFA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235
Cardiomyopathy_Paediatric v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236
Cardiomyopathy_Paediatric v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243
Cardiomyopathy_Paediatric v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020
Cardiomyopathy_Paediatric v0.0 MYPN Zornitza Stark gene: MYPN was added
gene: MYPN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYPN were set to Cardiomyopathy, dilated, 1KK; Cardiomypathy, familial hypertrophic, 22,
Cardiomyopathy_Paediatric v0.0 MYL3 Zornitza Stark gene: MYL3 was added
gene: MYL3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8,
Cardiomyopathy_Paediatric v0.0 MYL2 Zornitza Stark gene: MYL2 was added
gene: MYL2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10
Cardiomyopathy_Paediatric v0.0 MYH7 Zornitza Stark gene: MYH7 was added
gene: MYH7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYH7 were set to Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,; Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S
Cardiomyopathy_Paediatric v0.0 MYH6 Zornitza Stark gene: MYH6 was added
gene: MYH6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH6 were set to Cardiomyopathy, familial hypertrophic, 14; Cardiomyopathy, dilated, 1EE
Cardiomyopathy_Paediatric v0.0 MYBPC3 Zornitza Stark gene: MYBPC3 was added
gene: MYBPC3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic, 4,; Left ventricular noncompaction 10,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy
Cardiomyopathy_Paediatric v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 27604308
Phenotypes for gene: MUT were set to Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; Methylmalonic aciduria, mut(0) type 251000; DCM; Methylmalonyl-CoA mutase deficiency (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
Cardiomyopathy_Paediatric v0.0 MRPL44 Zornitza Stark gene: MRPL44 was added
gene: MRPL44 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Cardiomyopathy_Paediatric v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLYCD were set to 27604308; 12955715; 7609455; 9177981
Phenotypes for gene: MLYCD were set to malonic aciduria; 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism); Malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); Mild clinical features. Developmental delay, epilepsy; Malonyl-CoA decarboxylase deficiency; HCM; Hypertrophic-hypocontractile cardiomyopathy
Cardiomyopathy_Paediatric v0.0 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction 7
Cardiomyopathy_Paediatric v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K2 were set to 23379592; 21396583
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 4; syndromic HCM; CFC syndrome
Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583
Phenotypes for gene: MAP2K1 were set to ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 3; syndromic HCM; CFC syndrome; LEOPARD syndrome
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 25795793; 29469822
Phenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564
Cardiomyopathy_Paediatric v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRPPRC were set to 12529507; 24399447; 22045337; 26510951
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111
Cardiomyopathy_Paediatric v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 15148145; 18551513; 15622532
Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A; Emery-Dreifuss muscular dystrophy 2, AD, 181350; Congenital Muscular Dystrophy, LMNA-related (Dominant); Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
Cardiomyopathy_Paediatric v0.0 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAMP2 were set to 27604308
Phenotypes for gene: LAMP2 were set to Danon disease; syndromic HCM
Cardiomyopathy_Paediatric v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to PMID: 21396583
Phenotypes for gene: KRAS were set to Noonan syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 2 615278; Cardiofaciocutaneous syndrome 2; CFC syndrome; Noonan syndrome; Noonan syndrome 3 609942
Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12
Cardiomyopathy_Paediatric v0.0 JPH2 Zornitza Stark gene: JPH2 was added
gene: JPH2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 27604308
Phenotypes for gene: IDUA were set to Scheie syndrome; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis type 1S; Hurler syndrome; MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type I; Mucopolysaccharidosis type 1H/S; Mucopolysaccharidosis Is, 607016
Cardiomyopathy_Paediatric v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 27604308
Phenotypes for gene: IDS were set to MPS II, Hunter disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 2; Mucopolysaccharidosis Type II; Mucopolysaccharidosis II, 309900
Cardiomyopathy_Paediatric v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 24049096; 20847235
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2, 613657; Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2
Cardiomyopathy_Paediatric v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 16170316; 16969868; 16443854; 21396583
Phenotypes for gene: HRAS were set to Costello syndrome; syndromic HCM
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 HCN4 Zornitza Stark gene: HCN4 was added
gene: HCN4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 27604308
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Cardiomyopathy_Paediatric v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 27604308
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Cardiomyopathy_Paediatric v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUSB were set to 27604308
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220; Mucopolysaccharidosis, Type VII; syndromic HCM; MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis Type VII; MPS VII, Sly disease (MPS IV, Morquio disease)
Cardiomyopathy_Paediatric v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 27604308
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis Type IVB; MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis, Type IV; GM1-gangliosidosis, type III, 230650; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; syndromic HCM; GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010
Cardiomyopathy_Paediatric v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to HCM, mixed; Glycogen storage disease II, 232300; syndromic HCM; Hypotonia, muscle weakness, progressive respiratory failure; Glycogen storage disease type II (Pompe disease)
Cardiomyopathy_Paediatric v0.0 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 27604308
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Dilated Cardiomyopathy, Recessive; Fukuyama Congenital Muscular Dystrophy; Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Cardiomyopathy, dilated, 1X; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Cardiomyopathy_Paediatric v0.0 FHOD3 Zornitza Stark gene: FHOD3 was added
gene: FHOD3 was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy
Cardiomyopathy_Paediatric v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091
Cardiomyopathy_Paediatric v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 27604308
Phenotypes for gene: FAH were set to HCM; Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I
Cardiomyopathy_Paediatric v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23838600; 23674064; 26395118; 26917586; 23222957; 25331754; 28624465
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Cardiomyopathy_Paediatric v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Cardiomyopathy_Paediatric v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair and keratoderma
Cardiomyopathy_Paediatric v0.0 DSG2 Zornitza Stark gene: DSG2 was added
gene: DSG2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10; Cardiomyopathy, dilated, 1BB,
Cardiomyopathy_Paediatric v0.0 DSC2 Zornitza Stark gene: DSC2 was added
gene: DSC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
Cardiomyopathy_Paediatric v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 17273964; 22242004; 23890587
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Cardiomyopathy_Paediatric v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 16055927; 22797137; 27928778; 27604308; 27426421
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; dilated cardiomyopathy with ataxia syndrome; 3-methylglutaconic aciduria, type V
Cardiomyopathy_Paediatric v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200; Cardiomyopathy, dilated, 3B; Dilated Cardiomyopathy, X-Linked; Becker muscular dystrophy, 300376
Cardiomyopathy_Paediatric v0.0 DES Zornitza Stark gene: DES was added
gene: DES was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I,
Cardiomyopathy_Paediatric v0.0 CSRP3 Zornitza Stark gene: CSRP3 was added
gene: CSRP3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSRP3 were set to Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12
Cardiomyopathy_Paediatric v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 24816252; 27604308
Phenotypes for gene: CPT2 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649; HCM, mixed; DCM; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Cardiomyopathy_Paediatric v0.0 COX6B1 Zornitza Stark gene: COX6B1 was added
gene: COX6B1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Cardiomyopathy_Paediatric v0.0 COX14 Zornitza Stark gene: COX14 was added
gene: COX14 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 COA6 Zornitza Stark gene: COA6 was added
gene: COA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA6 were set to 25339201; 22277967; 25959673; 24549041
Phenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Cardiomyopathy_Paediatric v0.0 COA5 Zornitza Stark gene: COA5 was added
gene: COA5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA5 were set to 27604308
Phenotypes for gene: COA5 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial complex IV deficiency, 220110; syndromic HCM; Isolated complex IV deficiency; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Cardiomyopathy_Paediatric v0.0 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBL were set to 19571318; 20543203; 20619386
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 19206169; 21396583
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3; Noonan Syndrome; LEOPARD syndrome 3 613707
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 BAG3 Zornitza Stark gene: BAG3 was added
gene: BAG3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH
Cardiomyopathy_Paediatric v0.0 ATPAF2 Zornitza Stark gene: ATPAF2 was added
gene: ATPAF2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Cardiomyopathy_Paediatric v0.0 ATP5D Zornitza Stark gene: ATP5D was added
gene: ATP5D was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Cardiomyopathy_Paediatric v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSB were set to 27604308
Phenotypes for gene: ARSB were set to MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; Mucopolysaccharidosis, Type VI; MUCOPOLYSACCHARIDOSIS TYPE 6
Cardiomyopathy_Paediatric v0.0 ALPK3 Zornitza Stark gene: ALPK3 was added
gene: ALPK3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, 618052
Cardiomyopathy_Paediatric v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALMS1 were set to 15689433
Phenotypes for gene: ALMS1 were set to OMIM 203800
Cardiomyopathy_Paediatric v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 27604308; National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
Phenotypes for gene: AGL were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type III; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; HCM; Glycogen storage disease type IIIa (debrancher enzyme deficiency); myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; syndromic HCM; Glycogen storage disease type III, Cori (Glycogen storage disorders); Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease IIIa, 232400; Glycogen Storage Disease; Glycogen storage disease IIIb, 232400
Cardiomyopathy_Paediatric v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Sengers syndrome, 212350
Cardiomyopathy_Paediatric v0.0 ACTN2 Zornitza Stark gene: ACTN2 was added
gene: ACTN2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN2 were set to Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 ACTC1 Zornitza Stark gene: ACTC1 was added
gene: ACTC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4; Left Ventricular Noncompaction Cardiomyopathy; Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11
Cardiomyopathy_Paediatric v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537
Phenotypes for gene: ACTA1 were set to Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; Dilated cardiomyopathy; Myopathy, congenital, with fiber-type disproportion 1 255310; CMD with rigid spine
Cardiomyopathy_Paediatric v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 27604308; 24285112; 9973285; National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
Phenotypes for gene: ACADVL were set to Liver disease, hepatomegaly, hypoketotic hypoglycaemia; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); DCM, mixed; syndromic HCM; VLCAD deficiency; HCM
Cardiomyopathy_Paediatric v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126
Cardiomyopathy_Paediatric v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCC9 were set to 15034580
Phenotypes for gene: ABCC9 were set to Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 25058219; 21549344
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Cardiomyopathy_Paediatric v0.0 Zornitza Stark Added panel Cardiomyopathy_Paediatric