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Cardiomyopathy_Paediatric v2.0 Zornitza Stark promoted panel to version 2.0
Cardiomyopathy_Paediatric v1.384 Zornitza Stark removed gene:TTC19 from the panel
Cardiomyopathy_Paediatric v1.383 TMPO Zornitza Stark Marked gene: TMPO as ready
Cardiomyopathy_Paediatric v1.383 TMPO Zornitza Stark Gene: tmpo has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.383 TMPO Zornitza Stark Phenotypes for gene: TMPO were changed from Dilated Cardiomyopathy, Dominant to Dilated cardiomyopathy, MONDO:0005021
Cardiomyopathy_Paediatric v1.382 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Cardiomyopathy_Paediatric v1.382 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.382 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from Arrhythmogenic right ventricular dysplasia 1 to Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
Cardiomyopathy_Paediatric v1.381 Zornitza Stark Added reviews for gene TGFB3 from panel Arrhythmogenic Cardiomyopathy
Cardiomyopathy_Paediatric v1.380 TCAP Zornitza Stark Marked gene: TCAP as ready
Cardiomyopathy_Paediatric v1.380 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.380 TCAP Zornitza Stark Phenotypes for gene: TCAP were changed from Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N to Cardiomyopathy, hypertrophic, 25, MIM# 607487
Cardiomyopathy_Paediatric v1.379 TCAP Zornitza Stark Publications for gene: TCAP were set to 21530252; 23479141
Cardiomyopathy_Paediatric v1.378 TCAP Zornitza Stark Mode of inheritance for gene: TCAP was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.377 TCAP Zornitza Stark Tag disputed tag was added to gene: TCAP.
Cardiomyopathy_Paediatric v1.377 Zornitza Stark removed gene:TACO1 from the panel
Cardiomyopathy_Paediatric v1.376 Zornitza Stark removed gene:SPRED1 from the panel
Cardiomyopathy_Paediatric v1.375 NEBL Zornitza Stark Marked gene: NEBL as ready
Cardiomyopathy_Paediatric v1.375 NEBL Zornitza Stark Gene: nebl has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.375 NEBL Zornitza Stark Phenotypes for gene: NEBL were changed from to dilated cardiomyopathy MONDO:0005021, NEBL-related
Cardiomyopathy_Paediatric v1.374 NEBL Zornitza Stark Publications for gene: NEBL were set to
Cardiomyopathy_Paediatric v1.373 Zornitza Stark removed gene:NDUFAF8 from the panel
Cardiomyopathy_Paediatric v1.372 Zornitza Stark removed gene:NDUFAF6 from the panel
Cardiomyopathy_Paediatric v1.371 Zornitza Stark removed gene:NDUFA9 from the panel
Cardiomyopathy_Paediatric v1.370 Zornitza Stark removed gene:NDUFA6 from the panel
Cardiomyopathy_Paediatric v1.369 Zornitza Stark removed gene:LYRM7 from the panel
Cardiomyopathy_Paediatric v1.368 ILK Zornitza Stark Marked gene: ILK as ready
Cardiomyopathy_Paediatric v1.368 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.368 ILK Zornitza Stark Phenotypes for gene: ILK were changed from to dilated cardiomyopathy MONDO:0005021, ILK-related
Cardiomyopathy_Paediatric v1.367 ILK Zornitza Stark Publications for gene: ILK were set to
Cardiomyopathy_Paediatric v1.366 ILK Zornitza Stark Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.365 Zornitza Stark Added reviews for gene ILK from panel Mendeliome
Cardiomyopathy_Paediatric v1.364 Zornitza Stark removed gene:GNS from the panel
Cardiomyopathy_Paediatric v1.363 Zornitza Stark removed gene:GLRA1 from the panel
Cardiomyopathy_Paediatric v1.362 Zornitza Stark removed gene:GALNS from the panel
Cardiomyopathy_Paediatric v1.361 Zornitza Stark removed gene:ETFB from the panel
Cardiomyopathy_Paediatric v1.360 Zornitza Stark removed gene:ETFA from the panel
Cardiomyopathy_Paediatric v1.359 JPH2 Carlos Smith-Diaz reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31227780, 30384889, 34036930, 35838873; Phenotypes: Dilated Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.359 Zornitza Stark removed gene:DHCR7 from the panel
Cardiomyopathy_Paediatric v1.358 CYC1 Zornitza Stark Marked gene: CYC1 as ready
Cardiomyopathy_Paediatric v1.358 CYC1 Zornitza Stark Gene: cyc1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.358 CYC1 Zornitza Stark Phenotypes for gene: CYC1 were changed from Mitochondrial complex III deficiency, nuclear type 6, 615453 to Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453
Cardiomyopathy_Paediatric v1.357 CYC1 Zornitza Stark reviewed gene: CYC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.357 CTF1 Zornitza Stark Marked gene: CTF1 as ready
Cardiomyopathy_Paediatric v1.357 CTF1 Zornitza Stark Gene: ctf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.357 CTF1 Zornitza Stark Phenotypes for gene: CTF1 were changed from to dilated cardiomyopathy MONDO:0005021, CTF1-related
Cardiomyopathy_Paediatric v1.356 CTF1 Zornitza Stark Publications for gene: CTF1 were set to
Cardiomyopathy_Paediatric v1.355 CTF1 Zornitza Stark reviewed gene: CTF1: Rating: RED; Mode of pathogenicity: None; Publications: 11058912, 24503780, 26084686, 7862649, 8833032, 12234945, 24366078, 21771897, 22733458; Phenotypes: dilated cardiomyopathy MONDO:0005021, CTF1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.355 Zornitza Stark removed gene:CPS1 from the panel
Cardiomyopathy_Paediatric v1.354 Zornitza Stark removed gene:COX6A1 from the panel
Cardiomyopathy_Paediatric v1.353 COA8 Zornitza Stark Marked gene: COA8 as ready
Cardiomyopathy_Paediatric v1.353 COA8 Zornitza Stark Gene: coa8 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.353 COA8 Zornitza Stark Phenotypes for gene: COA8 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, MIM# 619061
Cardiomyopathy_Paediatric v1.352 COA8 Zornitza Stark reviewed gene: COA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 17, MIM# 619061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.352 Zornitza Stark removed gene:COA7 from the panel
Cardiomyopathy_Paediatric v1.351 Zornitza Stark removed gene:BTK from the panel
Cardiomyopathy_Paediatric v1.350 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Cardiomyopathy_Paediatric v1.350 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.350 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from 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) to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600
Cardiomyopathy_Paediatric v1.349 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.349 ANKRD1 Zornitza Stark Marked gene: ANKRD1 as ready
Cardiomyopathy_Paediatric v1.349 ANKRD1 Zornitza Stark Gene: ankrd1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.349 ANKRD1 Zornitza Stark Phenotypes for gene: ANKRD1 were changed from Dilated Cardiomyopathy, Dominant to dilated cardiomyopathy MONDO:0005021; hypertrophic cardiomyopathy MONDO:0005045
Cardiomyopathy_Paediatric v1.348 ANKRD1 Zornitza Stark edited their review of gene: ANKRD1: Changed phenotypes: dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045
Cardiomyopathy_Paediatric v1.348 ANKRD1 Zornitza Stark Publications for gene: ANKRD1 were set to
Cardiomyopathy_Paediatric v1.347 ANKRD1 Zornitza Stark reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cardiomyopathy_Paediatric v1.347 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Cardiomyopathy_Paediatric v1.347 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.347 UQCC2 Zornitza Stark Phenotypes for gene: UQCC2 were changed from Mitochondrial complex III deficiency, nuclear type 7, 615824 to Mitochondrial complex III deficiency, nuclear type 7, MIM# 615824
Cardiomyopathy_Paediatric v1.346 UQCC2 Zornitza Stark Classified gene: UQCC2 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.346 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.345 UQCC2 Zornitza Stark reviewed gene: UQCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, MIM# 615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.345 SGSH Zornitza Stark Marked gene: SGSH as ready
Cardiomyopathy_Paediatric v1.345 SGSH Zornitza Stark Gene: sgsh has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.345 PET100 Zornitza Stark Marked gene: PET100 as ready
Cardiomyopathy_Paediatric v1.345 PET100 Zornitza Stark Gene: pet100 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.345 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Cardiomyopathy_Paediatric v1.344 PET100 Zornitza Stark Classified gene: PET100 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.344 PET100 Zornitza Stark Gene: pet100 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.343 PET100 Zornitza Stark reviewed gene: PET100: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.343 NDUFB8 Zornitza Stark Marked gene: NDUFB8 as ready
Cardiomyopathy_Paediatric v1.343 NDUFB8 Zornitza Stark Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.343 NDUFB8 Zornitza Stark Phenotypes for gene: NDUFB8 were changed from Mitochondrial complex I deficiency, nuclear type 32, 618252 to Mitochondrial complex I deficiency, nuclear type 32, MIM# 618252
Cardiomyopathy_Paediatric v1.342 NDUFB8 Zornitza Stark changed review comment from: Cardiomyopathy reported in one of the two original families.; to: Cardiomyopathy reported in one of the two original families.

The gene-disease relationship has been rated as MODERATE by ClinGen, with only 3 families reported -- the third family in PMID 30770271 had predominantly neurological involvement.
Cardiomyopathy_Paediatric v1.342 NDUFB8 Zornitza Stark reviewed gene: NDUFB8: Rating: AMBER; Mode of pathogenicity: None; Publications: 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, MIM# 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.342 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Cardiomyopathy_Paediatric v1.342 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.342 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Cardiomyopathy_Paediatric v1.341 NAGLU Zornitza Stark Publications for gene: NAGLU were set to 27604308
Cardiomyopathy_Paediatric v1.340 NAGLU Zornitza Stark Classified gene: NAGLU as Green List (high evidence)
Cardiomyopathy_Paediatric v1.340 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.339 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 37239976; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.339 MT-TI Zornitza Stark Marked gene: MT-TI as ready
Cardiomyopathy_Paediatric v1.339 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.339 MT-TI Zornitza Stark Phenotypes for gene: MT-TI were changed from to Mitochondrial disease (MONDO:0044970), MT-TI-related
Cardiomyopathy_Paediatric v1.338 MT-TI Zornitza Stark Publications for gene: MT-TI were set to
Cardiomyopathy_Paediatric v1.337 MT-TI Zornitza Stark Classified gene: MT-TI as Green List (high evidence)
Cardiomyopathy_Paediatric v1.337 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.336 MT-TI Zornitza Stark Tag mtDNA tag was added to gene: MT-TI.
Cardiomyopathy_Paediatric v1.336 MT-TI Zornitza Stark reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease (MONDO:0044970), MT-TI-related; Mode of inheritance: MITOCHONDRIAL
Cardiomyopathy_Paediatric v1.336 MT-ND6 Zornitza Stark Marked gene: MT-ND6 as ready
Cardiomyopathy_Paediatric v1.336 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.336 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Cardiomyopathy_Paediatric v1.336 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.336 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis Pigmentosa 73 to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930
Cardiomyopathy_Paediatric v1.335 HGSNAT Zornitza Stark edited their review of gene: HGSNAT: Changed rating: AMBER
Cardiomyopathy_Paediatric v1.335 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.335 HFE Zornitza Stark Marked gene: HFE as ready
Cardiomyopathy_Paediatric v1.335 HFE Zornitza Stark Gene: hfe has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.335 HFE Zornitza Stark Phenotypes for gene: HFE were changed from Hemochromatosis, 235200; Hemochromatosis; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); DCM; Haemochromatosis; Iron overload, liver disease, diabetes, hypogonadism; HCM; Hypertrophic-hypocontractile cardiomyopathy to Haemochromatosis, type 1, MIM# 235200
Cardiomyopathy_Paediatric v1.334 HFE Zornitza Stark Publications for gene: HFE were set to 27604308
Cardiomyopathy_Paediatric v1.333 HFE Zornitza Stark edited their review of gene: HFE: Changed rating: AMBER
Cardiomyopathy_Paediatric v1.333 HFE Zornitza Stark reviewed gene: HFE: Rating: ; Mode of pathogenicity: None; Publications: 36724119; Phenotypes: Haemochromatosis, type 1, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.333 VCL Zornitza Stark Marked gene: VCL as ready
Cardiomyopathy_Paediatric v1.333 VCL Zornitza Stark Gene: vcl has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.333 VCL Zornitza Stark Phenotypes for gene: VCL were changed from Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W to Cardiomyopathy, dilated, 1W, MIM# 611407
Cardiomyopathy_Paediatric v1.332 VCL Zornitza Stark Publications for gene: VCL were set to
Cardiomyopathy_Paediatric v1.331 VCL Zornitza Stark edited their review of gene: VCL: Added comment: STRONG by ClinGen for DCM. Predominantly paediatric onset.; Changed rating: GREEN; Changed publications: 17097056, 32516855; Changed phenotypes: Cardiomyopathy, dilated, 1W, MIM# 611407
Cardiomyopathy_Paediatric v1.331 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Cardiomyopathy_Paediatric v1.331 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.331 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from Mitochondrial complex I deficiency, nuclear type 19, 618241 to Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241
Cardiomyopathy_Paediatric v1.330 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Cardiomyopathy_Paediatric v1.329 FOXRED1 Zornitza Stark changed review comment from: HCM reported.; to: HCM reported but not a common/consistent feature.
Cardiomyopathy_Paediatric v1.329 FOXRED1 Zornitza Stark edited their review of gene: FOXRED1: Changed rating: AMBER
Cardiomyopathy_Paediatric v1.329 FOXRED1 Zornitza Stark reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20858599; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.329 CRYAB Zornitza Stark Marked gene: CRYAB as ready
Cardiomyopathy_Paediatric v1.329 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.329 CRYAB Zornitza Stark Phenotypes for gene: CRYAB were changed from Cardiomyopathy, dilated, 1II,; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869 to Cardiomyopathy, dilated, 1II, MIM# 615184
Cardiomyopathy_Paediatric v1.328 CRYAB Zornitza Stark Publications for gene: CRYAB were set to
Cardiomyopathy_Paediatric v1.327 CRYAB Zornitza Stark Mode of inheritance for gene: CRYAB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.326 CRYAB Zornitza Stark Classified gene: CRYAB as Red List (low evidence)
Cardiomyopathy_Paediatric v1.326 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.325 CRYAB Zornitza Stark reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: None; Publications: 16483541, 16793013]; Phenotypes: Cardiomyopathy, dilated, 1II, MIM# 615184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark edited their review of gene: COX7B: Changed rating: RED
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark Marked gene: COX7B as ready
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark Gene: cox7b has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark Classified gene: COX7B as Red List (low evidence)
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark Gene: cox7b has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.324 COX7B Zornitza Stark Publications for gene: COX7B were set to
Cardiomyopathy_Paediatric v1.323 COX7B Zornitza Stark reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM# 300887; 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 v1.322 TTR Zornitza Stark Marked gene: TTR as ready
Cardiomyopathy_Paediatric v1.322 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.322 TTR Zornitza Stark Phenotypes for gene: TTR were changed from syndromic HCM to Amyloidosis, hereditary systemic 1, MIM# 105210
Cardiomyopathy_Paediatric v1.321 TTR Zornitza Stark Publications for gene: TTR were set to 31118583; 31131842; 31111153; 30878017; 30120737
Cardiomyopathy_Paediatric v1.320 TTR Zornitza Stark reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary systemic 1, MIM# 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.320 TTN Zornitza Stark Marked gene: TTN as ready
Cardiomyopathy_Paediatric v1.320 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.320 TTN Zornitza Stark Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739
Cardiomyopathy_Paediatric v1.319 TTN Zornitza Stark reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: dilated cardiomyopathy 1G MONDO:0011400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.319 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Cardiomyopathy_Paediatric v1.319 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.319 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Cardiomyopathy_Paediatric v1.319 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.319 TPM1 Zornitza Stark Marked gene: TPM1 as ready
Cardiomyopathy_Paediatric v1.319 TPM1 Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.319 TPM1 Zornitza Stark Phenotypes for gene: TPM1 were changed from Left ventricular noncompaction 9,; Cardiomyopathy, dilated, 1Y; Cardiomyopathy, familial hypertrophic, 3 to Cardiomyopathy, dilated, 1Y, MIM# 611878
Cardiomyopathy_Paediatric v1.318 TPM1 Zornitza Stark Publications for gene: TPM1 were set to
Cardiomyopathy_Paediatric v1.317 TPM1 Zornitza Stark reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.317 TNNT2 Zornitza Stark Marked gene: TNNT2 as ready
Cardiomyopathy_Paediatric v1.317 TNNT2 Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.317 TNNT2 Zornitza Stark Phenotypes for gene: TNNT2 were changed from Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6, to Cardiomyopathy, dilated, 1D MIM#601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195
Cardiomyopathy_Paediatric v1.316 TNNT2 Zornitza Stark Publications for gene: TNNT2 were set to
Cardiomyopathy_Paediatric v1.315 TNNT2 Zornitza Stark reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11106718; Phenotypes: Cardiomyopathy, dilated, 1D MIM#601494, Cardiomyopathy, hypertrophic, 2, MIM# 115195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.315 TNNC1 Zornitza Stark Marked gene: TNNC1 as ready
Cardiomyopathy_Paediatric v1.315 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.315 TNNC1 Zornitza Stark Phenotypes for gene: TNNC1 were changed from Cardiomyopathy, familial hypertrophic, 13,; Cardiomyopathy, dilated, 1Z to Cardiomyopathy, dilated, 1Z, MIM# 611879; Cardiomyopathy, hypertrophic, 13, MIM# 613243
Cardiomyopathy_Paediatric v1.314 TNNC1 Zornitza Stark Publications for gene: TNNC1 were set to
Cardiomyopathy_Paediatric v1.313 TNNC1 Zornitza Stark reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1Z, MIM# 611879, Cardiomyopathy, hypertrophic, 13, MIM# 613243; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.313 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Cardiomyopathy_Paediatric v1.313 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.313 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 to mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MONDO:0013546
Cardiomyopathy_Paediatric v1.312 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Cardiomyopathy_Paediatric v1.311 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Cardiomyopathy_Paediatric v1.311 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.311 TMEM43 Zornitza Stark Phenotypes for gene: TMEM43 were changed from Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302 to Arrhythmogenic right ventricular dysplasia 5, MIM#604400
Cardiomyopathy_Paediatric v1.310 TMEM43 Zornitza Stark Publications for gene: TMEM43 were set to
Cardiomyopathy_Paediatric v1.309 TMEM126B Zornitza Stark Marked gene: TMEM126B as ready
Cardiomyopathy_Paediatric v1.309 TMEM126B Zornitza Stark Gene: tmem126b has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.309 TMEM126B Zornitza Stark Phenotypes for gene: TMEM126B were changed from Mitochondrial complex I deficiency, nuclear type 29, 618250 to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
Cardiomyopathy_Paediatric v1.308 TMEM126B Zornitza Stark reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.308 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Cardiomyopathy_Paediatric v1.308 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.308 TAFAZZIN Zornitza Stark Marked gene: TAFAZZIN as ready
Cardiomyopathy_Paediatric v1.308 TAFAZZIN Zornitza Stark Gene: tafazzin has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.308 TAFAZZIN Zornitza Stark Phenotypes for gene: TAFAZZIN were changed from 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 to Barth syndrome, MIM# 302060
Cardiomyopathy_Paediatric v1.307 TAFAZZIN Zornitza Stark Publications for gene: TAFAZZIN were set to 27604308
Cardiomyopathy_Paediatric v1.306 TAFAZZIN Zornitza Stark reviewed gene: TAFAZZIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20812380; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.306 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Cardiomyopathy_Paediatric v1.306 SURF1 Zornitza Stark Gene: surf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.306 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Cardiomyopathy_Paediatric v1.305 SURF1 Zornitza Stark Classified gene: SURF1 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.305 SURF1 Zornitza Stark Gene: surf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.304 SURF1 Zornitza Stark reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.304 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Cardiomyopathy_Paediatric v1.304 SOS2 Zornitza Stark Gene: sos2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.304 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from Noonan syndrome 9 616559; Noonan syndrome 9 to Noonan syndrome 9, MIM# 616559
Cardiomyopathy_Paediatric v1.303 SOS2 Zornitza Stark Classified gene: SOS2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.303 SOS2 Zornitza Stark Gene: sos2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.302 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.302 SGCD Zornitza Stark Marked gene: SGCD as ready
Cardiomyopathy_Paediatric v1.302 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.302 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated, 1L, 606685 to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Cardiomyopathy_Paediatric v1.301 SGCD Zornitza Stark Publications for gene: SGCD were set to 10735275; 18779423; 23900355
Cardiomyopathy_Paediatric v1.300 SGCD Zornitza Stark reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 34515763; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.300 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Cardiomyopathy_Paediatric v1.300 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.300 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial respiratory chain complex II deficiency, 252011 to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Cardiomyopathy_Paediatric v1.299 SDHAF1 Zornitza Stark Classified gene: SDHAF1 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.299 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.298 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.298 SDHA Zornitza Stark Marked gene: SDHA as ready
Cardiomyopathy_Paediatric v1.298 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.298 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from 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 to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642
Cardiomyopathy_Paediatric v1.297 SDHA Zornitza Stark Publications for gene: SDHA were set to 27604308
Cardiomyopathy_Paediatric v1.296 SDHA Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20551992; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011, Cardiomyopathy, dilated, 1GG, MIM# 613642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.296 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Cardiomyopathy_Paediatric v1.296 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.296 RYR2 Zornitza Stark Phenotypes for gene: RYR2 were changed from Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 2, 600996 to dilated cardiomyopathy MONDO:0005021; hypertrophic cardiomyopathy MONDO:0005045; arrhythmogenic right ventricular cardiomyopathy MONDO:0016587
Cardiomyopathy_Paediatric v1.295 RYR2 Zornitza Stark Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/
Cardiomyopathy_Paediatric v1.294 RYR2 Zornitza Stark Classified gene: RYR2 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.294 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.293 RYR2 Zornitza Stark edited their review of gene: RYR2: Added comment: LIMITED by ClinGen for association with DCM and HCM. REFUTED for ARVC.; Changed rating: RED; Changed phenotypes: dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045, arrhythmogenic right ventricular cardiomyopathy MONDO:0016587; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.293 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Cardiomyopathy_Paediatric v1.293 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.293 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1; Noonan syndrome 1 163950; LEOPARD syndrome 1 151100; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome; Noonan syndrome to Noonan syndrome 1, MIM# 163950
Cardiomyopathy_Paediatric v1.292 PTPN11 Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v1.291 PTPN11 Zornitza Stark reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Noonan syndrome 1, MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.291 PLN Zornitza Stark Marked gene: PLN as ready
Cardiomyopathy_Paediatric v1.291 PLN Zornitza Stark Gene: pln has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.291 PLN Zornitza Stark Phenotypes for gene: PLN were changed from Cardiomyopathy, familial hypertrophic, 18,; Cardiomyopathy, dilated, 1P to Cardiomyopathy, dilated, 1P, MIM# 609909; Cardiomyopathy, hypertrophic, 18, MIM# 613874
Cardiomyopathy_Paediatric v1.290 PLN Zornitza Stark Publications for gene: PLN were set to
Cardiomyopathy_Paediatric v1.289 PLN Zornitza Stark reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909, Cardiomyopathy, hypertrophic, 18, MIM# 613874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.289 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Cardiomyopathy_Paediatric v1.289 NUBPL Zornitza Stark Gene: nubpl has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.289 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from Mitochondrial complex I deficiency, nuclear type 21, 618242 to Mitochondrial complex I deficiency, nuclear type 21, MIM# 618242
Cardiomyopathy_Paediatric v1.288 NUBPL Zornitza Stark Classified gene: NUBPL as Red List (low evidence)
Cardiomyopathy_Paediatric v1.288 NUBPL Zornitza Stark Gene: nubpl has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.287 NUBPL Zornitza Stark reviewed gene: NUBPL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, MIM# 618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.287 NRAS Zornitza Stark Marked gene: NRAS as ready
Cardiomyopathy_Paediatric v1.287 NRAS Zornitza Stark Gene: nras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.287 NRAS Zornitza Stark Phenotypes for gene: NRAS were changed from Noonan syndrome 6 613224; CFC Syndrome; Cardio-Facio-cutanenous syndrome; syndromic HCM; Noonan syndrome 6; Noonan syndrome to Noonan syndrome 6, MIM# 613224
Cardiomyopathy_Paediatric v1.286 NRAS Zornitza Stark edited their review of gene: NRAS: Changed publications: 19966803
Cardiomyopathy_Paediatric v1.286 NRAS Zornitza Stark reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 6, MIM# 613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.286 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Cardiomyopathy_Paediatric v1.286 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.286 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from Mitochondrial complex I deficiency, nuclear type 3, 618224 to Mitochondrial complex I deficiency, nuclear type 3, MIM# 618224
Cardiomyopathy_Paediatric v1.285 NDUFS7 Zornitza Stark Classified gene: NDUFS7 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.285 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.284 NDUFS7 Zornitza Stark reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3, MIM# 618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.284 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Cardiomyopathy_Paediatric v1.284 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.284 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from Mitochondrial complex I deficiency, nuclear type 9, 618232 to Mitochondrial complex I deficiency, nuclear type 9, MIM# 618232
Cardiomyopathy_Paediatric v1.283 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.283 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.282 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, MIM# 618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.282 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Cardiomyopathy_Paediatric v1.282 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.282 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from Mitochondrial complex I deficiency, nuclear type 8, 618230 to Mitochondrial complex I deficiency, nuclear type 8, MIM# 618230
Cardiomyopathy_Paediatric v1.281 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.281 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.280 NDUFS3 Zornitza Stark reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, MIM# 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.280 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Cardiomyopathy_Paediatric v1.280 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.280 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, 618226 to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Cardiomyopathy_Paediatric v1.279 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.279 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.278 NDUFS1 Zornitza Stark reviewed gene: NDUFS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.278 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Cardiomyopathy_Paediatric v1.278 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.278 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from Mitochondrial complex I deficiency, nuclear type 25, 618246 to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246
Cardiomyopathy_Paediatric v1.277 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.277 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.276 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.276 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Cardiomyopathy_Paediatric v1.276 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.276 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from Mitochondrial complex I deficiency, nuclear type 16, 616238 to Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238
Cardiomyopathy_Paediatric v1.275 NDUFAF5 Zornitza Stark Classified gene: NDUFAF5 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.275 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.274 NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.274 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Cardiomyopathy_Paediatric v1.274 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.274 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from Mitochondrial complex I deficiency, nuclear type 18, 618240 to Mitochondrial complex I deficiency, nuclear type 18, MIM# 618240
Cardiomyopathy_Paediatric v1.273 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.273 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.272 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, MIM# 618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.272 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Cardiomyopathy_Paediatric v1.272 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.272 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from Mitochondrial complex I deficiency, nuclear type 10, 618233 to Mitochondrial complex I deficiency, nuclear type 10, MIM# 618233
Cardiomyopathy_Paediatric v1.271 NDUFAF2 Zornitza Stark Classified gene: NDUFAF2 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.271 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.270 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM# 618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.270 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Cardiomyopathy_Paediatric v1.270 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.270 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Mitochondrial complex I deficiency, nuclear type 13, 618235 to Mitochondrial complex I deficiency, nuclear type 13, MIM# 618235
Cardiomyopathy_Paediatric v1.269 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Cardiomyopathy_Paediatric v1.268 NDUFA2 Zornitza Stark Classified gene: NDUFA2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.268 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.267 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, MIM# 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.267 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Cardiomyopathy_Paediatric v1.267 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.267 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from Mitochondrial complex I deficiency, nuclear type 22, 618243 to Mitochondrial complex I deficiency, nuclear type 22, MIM# 618243
Cardiomyopathy_Paediatric v1.266 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Cardiomyopathy_Paediatric v1.265 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM# 618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.265 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Cardiomyopathy_Paediatric v1.265 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.265 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from Mitochondrial complex I deficiency, nuclear type 12, 301020 to Mitochondrial complex I deficiency, nuclear type 12, MIM# 301020
Cardiomyopathy_Paediatric v1.264 NDUFA1 Zornitza Stark Mode of inheritance for gene: NDUFA1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.263 NDUFA1 Zornitza Stark Classified gene: NDUFA1 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.263 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.262 NDUFA1 Zornitza Stark reviewed gene: NDUFA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12, MIM# 301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.262 MYL3 Zornitza Stark Marked gene: MYL3 as ready
Cardiomyopathy_Paediatric v1.262 MYL3 Zornitza Stark Gene: myl3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.262 MYL3 Zornitza Stark Phenotypes for gene: MYL3 were changed from Cardiomyopathy, familial hypertrophic, 8, to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Cardiomyopathy_Paediatric v1.261 MYL3 Zornitza Stark Publications for gene: MYL3 were set to
Cardiomyopathy_Paediatric v1.260 MYL3 Zornitza Stark Mode of inheritance for gene: MYL3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.259 MYL3 Zornitza Stark reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37477868; Phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.259 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Cardiomyopathy_Paediatric v1.259 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.259 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,; Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S to Cardiomyopathy, hypertrophic, 1, MIM# 192600; Cardiomyopathy, dilated, 1S, MIM# 613426
Cardiomyopathy_Paediatric v1.258 MYH7 Zornitza Stark Publications for gene: MYH7 were set to
Cardiomyopathy_Paediatric v1.257 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.256 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 41380733; Phenotypes: Cardiomyopathy, hypertrophic, 1, MIM# 192600, Cardiomyopathy, dilated, 1S, MIM# 613426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.256 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Cardiomyopathy_Paediatric v1.256 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.256 MYBPC3 Zornitza Stark Phenotypes for gene: MYBPC3 were changed from Cardiomyopathy, familial hypertrophic, 4,; Left ventricular noncompaction 10,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy to Cardiomyopathy, hypertrophic, 4, MIM# 115197
Cardiomyopathy_Paediatric v1.255 MYBPC3 Zornitza Stark Publications for gene: MYBPC3 were set to
Cardiomyopathy_Paediatric v1.254 MYBPC3 Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.253 MYBPC3 Zornitza Stark reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 41572441; Phenotypes: Cardiomyopathy, hypertrophic, 4, MIM# 115197; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.253 MT-TR Zornitza Stark Marked gene: MT-TR as ready
Cardiomyopathy_Paediatric v1.253 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.253 MMUT Zornitza Stark Marked gene: MMUT as ready
Cardiomyopathy_Paediatric v1.253 MMUT Zornitza Stark Gene: mmut has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.253 MMUT Zornitza Stark Phenotypes for gene: MMUT were changed from 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. to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MONDO:0009612
Cardiomyopathy_Paediatric v1.252 MMUT Zornitza Stark Publications for gene: MMUT were set to 27604308
Cardiomyopathy_Paediatric v1.251 MMUT Zornitza Stark Classified gene: MMUT as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.251 MMUT Zornitza Stark Gene: mmut has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.250 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Cardiomyopathy_Paediatric v1.250 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.250 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from Leigh syndrome, French-Canadian type, 220111 to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM# 220111
Cardiomyopathy_Paediatric v1.249 LRPPRC Zornitza Stark reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26510951; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM# 220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.249 LMNA Zornitza Stark Marked gene: LMNA as ready
Cardiomyopathy_Paediatric v1.249 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.249 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Cardiomyopathy, dilated, 1A; Emery-Dreifuss muscular dystrophy 2, AD, 181350; Congenital Muscular Dystrophy, LMNA-related (Dominant); Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic to Cardiomyopathy, dilated, 1A, MIM# 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, MIM# 181350; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, MIM# 616516
Cardiomyopathy_Paediatric v1.248 LMNA Zornitza Stark Publications for gene: LMNA were set to 15148145; 18551513; 15622532
Cardiomyopathy_Paediatric v1.247 LMNA Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 39998502; Phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, MIM# 181350, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, MIM# 616516; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.247 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Cardiomyopathy_Paediatric v1.247 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.247 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from Danon disease; syndromic HCM to Danon disease, MIM#300257
Cardiomyopathy_Paediatric v1.246 LAMP2 Zornitza Stark Publications for gene: LAMP2 were set to 27604308
Cardiomyopathy_Paediatric v1.245 IDH2 Zornitza Stark Tag treatable tag was added to gene: IDH2.
Cardiomyopathy_Paediatric v1.245 IDH2 Zornitza Stark Marked gene: IDH2 as ready
Cardiomyopathy_Paediatric v1.245 IDH2 Zornitza Stark Gene: idh2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.245 IDH2 Zornitza Stark Phenotypes for gene: IDH2 were changed from D-2-hydroxyglutaric aciduria 2, 613657; Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2 to D-2-hydroxyglutaric aciduria 2, MIM# 613657
Cardiomyopathy_Paediatric v1.244 IDH2 Zornitza Stark Publications for gene: IDH2 were set to 24049096; 20847235
Cardiomyopathy_Paediatric v1.243 IDH2 Zornitza Stark edited their review of gene: IDH2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.243 IDH2 Zornitza Stark reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37248298, 20847235; Phenotypes: D-2-hydroxyglutaric aciduria 2, MIM# 613657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.243 GUSB Zornitza Stark Marked gene: GUSB as ready
Cardiomyopathy_Paediatric v1.243 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.243 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII, 253220; Mucopolysaccharidosis, Type VII; syndromic HCM; MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis Type VII; MPS VII, Sly disease (MPS IV, Morquio disease) to Mucopolysaccharidosis VII, MIM# 253220
Cardiomyopathy_Paediatric v1.242 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.242 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Cardiomyopathy_Paediatric v1.242 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.242 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from 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 to GM1-gangliosidosis, type I, MIM# 230500
Cardiomyopathy_Paediatric v1.241 GLB1 Zornitza Stark reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1-gangliosidosis, type I, MIM# 230500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.241 GAA Zornitza Stark Marked gene: GAA as ready
Cardiomyopathy_Paediatric v1.241 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.241 GAA Zornitza Stark Phenotypes for gene: GAA were changed from HCM, mixed; Glycogen storage disease II, 232300; syndromic HCM; Hypotonia, muscle weakness, progressive respiratory failure; Glycogen storage disease type II (Pompe disease) to Pompe disease, infantile-onset, MIM# 232300
Cardiomyopathy_Paediatric v1.240 GAA Zornitza Stark Publications for gene: GAA were set to
Cardiomyopathy_Paediatric v1.239 GAA Zornitza Stark reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pompe disease, infantile-onset, MIM# 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.239 FLNC Zornitza Stark Marked gene: FLNC as ready
Cardiomyopathy_Paediatric v1.239 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.239 FLNC Zornitza Stark Phenotypes for gene: FLNC were changed from to Cardiomyopathy, familial dilated, 1PP, MIM# 617047; Cardiomyopathy, familial hypertrophic, 26, MIM# 617047
Cardiomyopathy_Paediatric v1.238 FLNC Zornitza Stark Publications for gene: FLNC were set to
Cardiomyopathy_Paediatric v1.237 FLNC Zornitza Stark edited their review of gene: FLNC: Added comment: DEFINITIVE association with DCM.

Generally adult-onset but onset in adolescence reported.; Changed phenotypes: Cardiomyopathy, familial dilated, 1PP, MIM# 617047, Cardiomyopathy, familial hypertrophic, 26, MIM# 617047
Cardiomyopathy_Paediatric v1.237 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Cardiomyopathy_Paediatric v1.237 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.237 FHL1 Zornitza Stark Phenotypes for gene: FHL1 were changed from to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Cardiomyopathy_Paediatric v1.236 FHL1 Zornitza Stark Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091
Cardiomyopathy_Paediatric v1.235 FHL1 Zornitza Stark edited their review of gene: FHL1: Added comment: PMID 42304238: reviewed 114 patients with pathogenic or likely pathogenic FHL1 variants. Most patients were male (69%), with a median age of onset of 18 (IQR 10-26) years. Cardiac involvement consisted in left ventricular hypertrophy (56%), followed by arrhythmias (51%), and conduction abnormalities (8%). The incidence of sudden cardiac death was 7%, and heart transplantation was reported in 5% of patients.; Changed publications: 42304238; Changed phenotypes: Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Cardiomyopathy_Paediatric v1.235 FAH Zornitza Stark Marked gene: FAH as ready
Cardiomyopathy_Paediatric v1.235 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.235 FAH Zornitza Stark Phenotypes for gene: FAH were changed from HCM; Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I to Tyrosinaemia, type I, MIM# 276700
Cardiomyopathy_Paediatric v1.234 FAH Zornitza Stark reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24016420; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.234 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Cardiomyopathy_Paediatric v1.234 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.234 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM to Vici syndrome, MIM# 242840
Cardiomyopathy_Paediatric v1.233 EPG5 Zornitza Stark reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957; Phenotypes: Vici syndrome, MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.233 EMD Zornitza Stark Marked gene: EMD as ready
Cardiomyopathy_Paediatric v1.233 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.233 EMD Zornitza Stark Publications for gene: EMD were set to
Cardiomyopathy_Paediatric v1.232 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
Cardiomyopathy_Paediatric v1.232 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.232 DNAJC19 Zornitza Stark Phenotypes for gene: DNAJC19 were changed from 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; dilated cardiomyopathy with ataxia syndrome; 3-methylglutaconic aciduria, type V to 3-methylglutaconic aciduria type 5, MONDO:0012435; 3-methylgutaconic aciduria, type V, OMIM:610198
Cardiomyopathy_Paediatric v1.231 DMD Zornitza Stark Marked gene: DMD as ready
Cardiomyopathy_Paediatric v1.231 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.231 DMD Zornitza Stark Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Cardiomyopathy, dilated, 3B; Dilated Cardiomyopathy, X-Linked; Becker muscular dystrophy, 300376 to Becker muscular dystrophy, MIM:300376; Cardiomyopathy, dilated, 3B, MIM:302045; Duchenne muscular dystrophy, MIM: 310200
Cardiomyopathy_Paediatric v1.230 DMD Zornitza Stark Publications for gene: DMD were set to
Cardiomyopathy_Paediatric v1.229 DES Zornitza Stark Marked gene: DES as ready
Cardiomyopathy_Paediatric v1.229 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.229 DES Zornitza Stark Phenotypes for gene: DES were changed from Cardiomyopathy, dilated, 1I, to Cardiomyopathy, dilated, 1I, MIM# 604765
Cardiomyopathy_Paediatric v1.228 DES Zornitza Stark Publications for gene: DES were set to
Cardiomyopathy_Paediatric v1.227 DES Zornitza Stark Mode of inheritance for gene: DES was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.226 DES Zornitza Stark reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 10430757, 20423733; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.226 CSRP3 Zornitza Stark Marked gene: CSRP3 as ready
Cardiomyopathy_Paediatric v1.226 CSRP3 Zornitza Stark Gene: csrp3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.226 CSRP3 Zornitza Stark Phenotypes for gene: CSRP3 were changed from Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12 to Cardiomyopathy, hypertrophic, 12, MIM# 612124
Cardiomyopathy_Paediatric v1.225 CSRP3 Zornitza Stark edited their review of gene: CSRP3: Changed publications: 18505755, 30681346, 34558151, 33035702, 31919335, 33012304, 37431535
Cardiomyopathy_Paediatric v1.225 CSRP3 Zornitza Stark Publications for gene: CSRP3 were set to 18505755; 30681346
Cardiomyopathy_Paediatric v1.224 CSRP3 Zornitza Stark Publications for gene: CSRP3 were set to
Cardiomyopathy_Paediatric v1.223 CSRP3 Zornitza Stark Mode of inheritance for gene: CSRP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.222 CSRP3 Zornitza Stark edited their review of gene: CSRP3: Added comment: DEFINITIVE by ClinGen, biallelic cases in particular can present early.

The proposed association with DCM is LIMITED by ClinGen.; Changed rating: GREEN; Changed phenotypes: Cardiomyopathy, hypertrophic, 12, MIM# 612124; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.222 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Cardiomyopathy_Paediatric v1.222 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.222 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from 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) to CPT II deficiency, infantile, MIM# 600649; CPT II deficiency, lethal neonatal, MIM# 608836
Cardiomyopathy_Paediatric v1.221 CPT2 Zornitza Stark Mode of inheritance for gene: CPT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.220 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPT II deficiency, infantile, MIM# 600649, CPT II deficiency, lethal neonatal, MIM# 608836; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.220 COX20 Zornitza Stark Marked gene: COX20 as ready
Cardiomyopathy_Paediatric v1.220 COX20 Zornitza Stark Gene: cox20 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.220 COX20 Zornitza Stark Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 11, MIM# 619054
Cardiomyopathy_Paediatric v1.219 COX20 Zornitza Stark Classified gene: COX20 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.219 COX20 Zornitza Stark Gene: cox20 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.218 COX20 Zornitza Stark reviewed gene: COX20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, MIM# 619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.218 CBL Zornitza Stark Marked gene: CBL as ready
Cardiomyopathy_Paediatric v1.218 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.218 CBL Zornitza Stark Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Cardiomyopathy_Paediatric v1.217 CBL Zornitza Stark reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.217 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Cardiomyopathy_Paediatric v1.217 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.217 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from to Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related
Cardiomyopathy_Paediatric v1.216 CACNA1C Zornitza Stark edited their review of gene: CACNA1C: Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related
Cardiomyopathy_Paediatric v1.216 CACNA1C Zornitza Stark Publications for gene: CACNA1C were set to
Cardiomyopathy_Paediatric v1.215 CACNA1C Zornitza Stark Classified gene: CACNA1C as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.215 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.214 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Cardiomyopathy_Paediatric v1.214 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.214 C10orf71 Zornitza Stark Marked gene: C10orf71 as ready
Cardiomyopathy_Paediatric v1.214 C10orf71 Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.214 ATP5F1D Zornitza Stark Marked gene: ATP5F1D as ready
Cardiomyopathy_Paediatric v1.214 ATP5F1D Zornitza Stark Gene: atp5f1d has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.214 ATP5F1D Zornitza Stark Classified gene: ATP5F1D as Red List (low evidence)
Cardiomyopathy_Paediatric v1.214 ATP5F1D Zornitza Stark Gene: atp5f1d has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.213 ATP5F1D Zornitza Stark reviewed gene: ATP5F1D: Rating: RED; Mode of pathogenicity: None; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.213 ALPK3 Zornitza Stark Marked gene: ALPK3 as ready
Cardiomyopathy_Paediatric v1.213 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.213 ALPK3 Zornitza Stark Phenotypes for gene: ALPK3 were changed from Cardiomyopathy, familial hypertrophic 27, 618052 to Cardiomyopathy, familial hypertrophic 27 MIM#618052
Cardiomyopathy_Paediatric v1.212 ALPK3 Zornitza Stark Publications for gene: ALPK3 were set to
Cardiomyopathy_Paediatric v1.211 ALPK3 Zornitza Stark Mode of inheritance for gene: ALPK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.210 AGL Zornitza Stark Marked gene: AGL as ready
Cardiomyopathy_Paediatric v1.210 AGL Zornitza Stark Gene: agl has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.210 AGL Zornitza Stark Phenotypes for gene: AGL were changed from 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 to Glycogen storage disease IIIa and IIIb, MIM#232400
Cardiomyopathy_Paediatric v1.209 AGK Zornitza Stark Marked gene: AGK as ready
Cardiomyopathy_Paediatric v1.209 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.209 AGK Zornitza Stark Phenotypes for gene: AGK were changed from Sengers syndrome, 212350 to Sengers syndrome, MIM#212350
Cardiomyopathy_Paediatric v1.208 AGK Zornitza Stark Publications for gene: AGK were set to
Cardiomyopathy_Paediatric v1.207 ACTN2 Zornitza Stark Marked gene: ACTN2 as ready
Cardiomyopathy_Paediatric v1.207 ACTN2 Zornitza Stark Gene: actn2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.207 ACTN2 Zornitza Stark Phenotypes for gene: ACTN2 were changed from Dilated Cardiomyopathy, Dominant; ACTN2-related cardiac and skeletal myopathy, MONDO:0700349 to Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158
Cardiomyopathy_Paediatric v1.206 ACTN2 Zornitza Stark Publications for gene: ACTN2 were set to
Cardiomyopathy_Paediatric v1.205 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Cardiomyopathy_Paediatric v1.205 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.205 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from Cardiomyopathy, hypertrophic, 11 612098 to Cardiomyopathy, hypertrophic, 11, MIM# 612098
Cardiomyopathy_Paediatric v1.204 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4; Left Ventricular Noncompaction Cardiomyopathy; Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11 to Cardiomyopathy, hypertrophic, 11 612098
Cardiomyopathy_Paediatric v1.203 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 11, MIM# 612098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.203 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Cardiomyopathy_Paediatric v1.203 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.203 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from 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 to VLCAD deficiency, MIM#201475
Cardiomyopathy_Paediatric v1.202 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Cardiomyopathy_Paediatric v1.202 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.202 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from Mitochondrial complex I deficiency, nuclear type 20, 611126 to acyl-CoA dehydrogenase 9 deficiency, MONDO:0012624
Cardiomyopathy_Paediatric v1.201 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Cardiomyopathy_Paediatric v1.200 PCCA Zornitza Stark Marked gene: PCCA as ready
Cardiomyopathy_Paediatric v1.200 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.200 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from 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 to propionic acidemia, MONDO:0011628
Cardiomyopathy_Paediatric v1.199 PCCA Zornitza Stark Publications for gene: PCCA were set to 27604308
Cardiomyopathy_Paediatric v1.198 PCCA Zornitza Stark reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 40172673, 39975893, 36395710; Phenotypes: propionic acidemia, MONDO:0011628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.198 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Cardiomyopathy_Paediatric v1.198 AARS2 Zornitza Stark Gene: aars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.198 AARS2 Zornitza Stark Phenotypes for gene: AARS2 were changed from 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) to combined oxidative phosphorylation defect type 8, MONDO:0013570
Cardiomyopathy_Paediatric v1.197 AARS2 Zornitza Stark Publications for gene: AARS2 were set to 25058219; 21549344
Cardiomyopathy_Paediatric v1.196 AARS2 Zornitza Stark reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40863384, 37293078, 30285085, 29440775, 25705216; Phenotypes: combined oxidative phosphorylation defect type 8, MONDO:0013570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.196 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Cardiomyopathy_Paediatric v1.196 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.196 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from 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 to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, MONDO:0011451
Cardiomyopathy_Paediatric v1.195 SCO2 Zornitza Stark Publications for gene: SCO2 were set to 27604308
Cardiomyopathy_Paediatric v1.194 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29193756, 25720770; Phenotypes: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, MONDO:0011451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.194 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Cardiomyopathy_Paediatric v1.194 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.194 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from 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 to carnitine-acylcarnitine translocase deficiency, MONDO:0008918
Cardiomyopathy_Paediatric v1.193 SLC25A20 Zornitza Stark Publications for gene: SLC25A20 were set to 27604308
Cardiomyopathy_Paediatric v1.192 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 36419912, 35360862, 34626609, 33634872; Phenotypes: carnitine-acylcarnitine translocase deficiency, MONDO:0008918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.192 MMUT Eleanor Ludington reviewed gene: MMUT: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33453710, 32754920; Phenotypes: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MONDO:0009612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.192 ACAD9 Eleanor Ludington reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30025539, 26669660, 21057504; Phenotypes: acyl-CoA dehydrogenase 9 deficiency, MONDO:0012624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.192 DSP Zornitza Stark Marked gene: DSP as ready
Cardiomyopathy_Paediatric v1.192 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.192 DSP Zornitza Stark Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair and keratoderma to arrhythmogenic cardiomyopathy with wooly hair and keratoderma, MONDO:0011581; dilated cardiomyopathy, MONDO:0005021
Cardiomyopathy_Paediatric v1.191 DSP Zornitza Stark Publications for gene: DSP were set to
Cardiomyopathy_Paediatric v1.190 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 41175027, 41108751, 40406876, 40399739, 38992493, 38551768, 36270459, 32969603, 31024045, 30993396, 28699631; Phenotypes: arrhythmogenic cardiomyopathy with wooly hair and keratoderma, MONDO:0011581, dilated cardiomyopathy, MONDO:0005021; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.190 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Cardiomyopathy_Paediatric v1.190 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.190 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; Dilated cardiomyopathy; Myopathy, congenital, with fiber-type disproportion 1 255310; CMD with rigid spine to congenital fiber-type disproportion myopathy, MONDO:0009711
Cardiomyopathy_Paediatric v1.189 ACTA1 Zornitza Stark Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537
Cardiomyopathy_Paediatric v1.188 ACTA1 Zornitza Stark reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39503885, 38559046, 35757965, 32969603; Phenotypes: congenital fiber-type disproportion myopathy, MONDO:0009711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.188 COX15 Zornitza Stark Marked gene: COX15 as ready
Cardiomyopathy_Paediatric v1.188 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.188 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MONDO:0014051
Cardiomyopathy_Paediatric v1.187 COX15 Zornitza Stark Publications for gene: COX15 were set to
Cardiomyopathy_Paediatric v1.186 COX15 Zornitza Stark edited their review of gene: COX15: Changed rating: GREEN
Cardiomyopathy_Paediatric v1.186 COX15 Zornitza Stark reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 42001949, 32232962, 26940873, 2175025, 21412973; Phenotypes: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MONDO:0014051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.186 HCN4 Zornitza Stark Marked gene: HCN4 as ready
Cardiomyopathy_Paediatric v1.186 HCN4 Zornitza Stark Gene: hcn4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.186 HCN4 Zornitza Stark Phenotypes for gene: HCN4 were changed from to Sick sinus syndrome MONDO:0001823
Cardiomyopathy_Paediatric v1.185 HCN4 Zornitza Stark Publications for gene: HCN4 were set to
Cardiomyopathy_Paediatric v1.184 HCN4 Zornitza Stark reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 40613349, 39698436, 35893073, 35328031, 35257104, 34540771, 33185997; Phenotypes: Sick sinus syndrome MONDO:0001823; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.184 TNNI3K Zornitza Stark Marked gene: TNNI3K as ready
Cardiomyopathy_Paediatric v1.184 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.184 TNNI3K Zornitza Stark Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to cardiac conduction disease with or without dilated cardiomyopathy 1, MONDO:0700388
Cardiomyopathy_Paediatric v1.183 TNNI3K Zornitza Stark Publications for gene: TNNI3K were set to
Cardiomyopathy_Paediatric v1.182 TNNI3K Zornitza Stark reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: None; Publications: 40904527, 40037387, 39272661, 37199186, 35274013; Phenotypes: cardiac conduction disease with or without dilated cardiomyopathy 1, MONDO:0700388; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.182 ARSB Zornitza Stark Marked gene: ARSB as ready
Cardiomyopathy_Paediatric v1.182 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.182 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; Mucopolysaccharidosis, Type VI; MUCOPOLYSACCHARIDOSIS TYPE 6 to mucopolysaccharidosis type 6, MONDO:0009661
Cardiomyopathy_Paediatric v1.181 ARSB Zornitza Stark Publications for gene: ARSB were set to 27604308
Cardiomyopathy_Paediatric v1.180 ARSB Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 36495517, 32075597; Phenotypes: mucopolysaccharidosis type 6, MONDO:0009661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.180 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Cardiomyopathy_Paediatric v1.180 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.180 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from Mitochondrial complex I deficiency, nuclear type 4, 618225 to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Cardiomyopathy_Paediatric v1.179 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Cardiomyopathy_Paediatric v1.178 NDUFV1 Zornitza Stark reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41140551, 39525154, 35482246; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.178 NDUFS8 Zornitza Stark Marked gene: NDUFS8 as ready
Cardiomyopathy_Paediatric v1.178 NDUFS8 Zornitza Stark Gene: ndufs8 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.178 NDUFS8 Zornitza Stark Phenotypes for gene: NDUFS8 were changed from Mitochondrial complex I deficiency, nuclear type 2, 618222 to mitochondrial complex I deficiency, nuclear type 2, MONDO:0032606
Cardiomyopathy_Paediatric v1.177 NDUFS8 Zornitza Stark Publications for gene: NDUFS8 were set to
Cardiomyopathy_Paediatric v1.176 NDUFS8 Zornitza Stark reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 38229652, 36462614, 9837812; Phenotypes: mitochondrial complex I deficiency, nuclear type 2, MONDO:0032606; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.176 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Cardiomyopathy_Paediatric v1.176 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.176 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from Cardiofaciocutaneous syndrome 4 615280; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 4; syndromic HCM; CFC syndrome to cardiofaciocutaneous syndrome 4, MONDO:0014114
Cardiomyopathy_Paediatric v1.175 MAP2K2 Zornitza Stark reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37697378; Phenotypes: cardiofaciocutaneous syndrome 4, MONDO:0014114; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.175 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Cardiomyopathy_Paediatric v1.175 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.175 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, nuclear type 6, 618228 to mitochondrial complex I deficiency, nuclear type 6, MONDO:0032611
Cardiomyopathy_Paediatric v1.174 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Cardiomyopathy_Paediatric v1.173 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36462614, 22036843; Phenotypes: mitochondrial complex I deficiency, nuclear type 6, MONDO:0032611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.173 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Cardiomyopathy_Paediatric v1.173 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.173 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from Mitochondrial complex I deficiency, nuclear type 1, 252010 to Mitochondrial complex I deficiency, nuclear type 1, MIM#252010
Cardiomyopathy_Paediatric v1.172 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Cardiomyopathy_Paediatric v1.171 NDUFS4 Zornitza Stark edited their review of gene: NDUFS4: Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 1, MIM#252010
Cardiomyopathy_Paediatric v1.171 NDUFS4 Zornitza Stark reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29101127, 22326555; Phenotypes: Leigh syndrome, MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.171 ETFB Eleanor Ludington reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: None; Publications: 27081516; Phenotypes: multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.171 DNAJC19 Eleanor Ludington reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34580891, 35611801, 27928778, 38283849; Phenotypes: 3-methylglutaconic aciduria type 5, MONDO:0012435, 3-methylgutaconic aciduria, type V, OMIM:610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.171 EMD Lucy Spencer Mode of inheritance for gene: EMD was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.170 EMD Lucy Spencer Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked, MIM#310300
Cardiomyopathy_Paediatric v1.169 EMD Lucy Spencer reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 42047848, 37639473; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.169 SGSH Lucy Spencer Phenotypes for gene: SGSH were changed from Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III to Mucopolysaccharidosis type IIIA (Sanfilippo A) MIM#252900
Cardiomyopathy_Paediatric v1.168 SGSH Lucy Spencer Publications for gene: SGSH were set to 27604308
Cardiomyopathy_Paediatric v1.167 SGSH Lucy Spencer reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 2789611:40160092; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A) MIM#252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.167 DMD Richard Lin changed review comment from: Dystrophin gene mutations are associated with X-linked progressive muscular dystrophy, including Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Cardiomyopathy is a feature of the disease, and results from dystrophin deficiency in the heart (PMID: 29395990).

The age of onset of cardiomyopathy is reported to be in the mid teens in boys with DMD, with a range of onset from 10-21 years (PMID: 16246949, 27230049). Children with very large deletions or following an episode of viral myocarditis have been reported to develop earlier onset LV dysfunction (PMID: 36252992).

A proportion of female dystrophinopathy carriers are also at risk of cardiomyopathy with or without skeletal muscle disease (PMID: 29395990), though there are limited reports of paediatric onset cardiomyopathy. Dilated cardiomyopathy was diagnosed in 1 out of 24 female carriers of DCM aged between 5 and 15 years. In a cohort study, cardiac hypertrophy was diagnosed in 2 out of 24 female DMD carriers, and 2 out of 9 BMD carriers (PMID: 8614119).; to: Dystrophin gene mutations are associated with X-linked progressive muscular dystrophy, including Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Cardiomyopathy is a feature of the disease, and results from dystrophin deficiency in the heart (PMID: 29395990).

The age of onset of cardiomyopathy is reported to be in the mid teens in boys with DMD, with a range of onset from 10-21 years (PMID: 16246949, 27230049). Children with very large deletions or following an episode of viral myocarditis have been reported to develop earlier onset LV dysfunction (PMID: 36252992).

A proportion of female dystrophinopathy carriers are also at risk of cardiomyopathy with or without skeletal muscle disease (PMID: 29395990), though there are limited reports of paediatric onset cardiomyopathy. In a cohort study, dilated cardiomyopathy was diagnosed in 1 out of 24 female carriers of DCM aged between 5 and 15 years. Cardiac hypertrophy was diagnosed in 2 out of 24 female DMD carriers, and 2 out of 9 BMD carriers in the same cohort (PMID: 8614119).
Cardiomyopathy_Paediatric v1.167 TMEM70 Richard Lin changed review comment from: Biallelic pathogenic variants in TMEM70 are associated with mitochondrial disease (ClinGen curation classified as definitive association). Paediatric onset cardiomyopathy, predominantly hypertrophic, and less commonly left ventricular noncompaction is well described.

PMID: 20335238 - Hypertrophic cardiomyopathy found in 76% (19/25 patients from 16 families) of neonatal onset TMEM70 associated ATP synthase deficiency. Twenty-four patients were homozygous for the c.317-2A>G mutation in the TMEM70 gene and one patient was compound heterozygote for c.[317-2A>G];[118_119insGT].
PMID: 26550569 - 4 affected sibs from one family with paediatric onset disease including noncompaction cardiomyopathy, 3 affected were homozygotes for TMEM70:c.317-2A>G, remaining affected child was not genotyped.
PMID: 27649480 - single case report of a male child who was homozygous for c.317-2A>G, diagnosed with neonatal onset hypertrophic cardiomyopathy.
PMID: 30899493 - infantile onset left ventricular noncompaction, compound heterozygous for a frameshift and a splice site variant c.[141delG];[316+1G>A]
PMID: 30950220 - 2 affected siblings who were homozygous for a frameshift variant c.105dupT (p.Val36Cysfs*52). Both were noted to have cardiac hypertrophy during antenatal fetal echocardiography.
PMID: 31729175 - 1 affected child who was homozygous for c.317-2A>G with dilated cardiomyopathy AND non compaction
PMID: 36751706 - 1 affected child with neonatal onset hyerptrophic cardiomyopathy and left ventricular non compaction, aortic dilatation. Homozygous for a missense VUS c.563T>C, p.(Leu188Pro), asserted by authors to be pathogenic based on a consistent metabolomic profile.; to: Biallelic pathogenic variants in TMEM70 are associated with mitochondrial disease (ClinGen curation classified as definitive association). Paediatric onset cardiomyopathy, predominantly hypertrophic, and less commonly left ventricular noncompaction is well described.

PMID: 20335238 - Hypertrophic cardiomyopathy found in 76% (19/25 patients from 16 families) of neonatal onset TMEM70 associated ATP synthase deficiency. All except one patient were homozygous for the c.317-2A>G mutation in the TMEM70 gene, with the remaining patient being compound heterozygote for c.[317-2A>G];[118_119insGT].
PMID: 26550569 - 4 affected sibs from one family with paediatric onset disease including noncompaction cardiomyopathy, 3 affected were homozygotes for TMEM70:c.317-2A>G, remaining affected child was not genotyped.
PMID: 27649480 - single case report of a male child who was homozygous for c.317-2A>G, diagnosed with neonatal onset hypertrophic cardiomyopathy.
PMID: 30899493 - infantile onset left ventricular noncompaction, compound heterozygous for a frameshift and a splice site variant c.[141delG];[316+1G>A]
PMID: 30950220 - 2 affected siblings who were homozygous for a frameshift variant c.105dupT (p.Val36Cysfs*52). Both were noted to have cardiac hypertrophy during antenatal fetal echocardiography.
PMID: 31729175 - 1 affected child who was homozygous for c.317-2A>G with dilated cardiomyopathy AND non compaction
PMID: 36751706 - 1 affected child with neonatal onset hyerptrophic cardiomyopathy and left ventricular non compaction, aortic dilatation. Homozygous for a missense VUS c.563T>C, p.(Leu188Pro), asserted by authors to be pathogenic based on a consistent metabolomic profile.
Cardiomyopathy_Paediatric v1.167 AGL Sarah Milton reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 27106217; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.167 ACADVL Sarah Milton reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301763; Phenotypes: VLCAD deficiency, MIM#201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.167 DMD Richard Lin reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8614119, 16246949, 27230049, 29395990, 36252992; Phenotypes: Becker muscular dystrophy, MIM:300376, Cardiomyopathy, dilated, 3B, MIM:302045, Duchenne muscular dystrophy, MIM: 310200; 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 v1.167 TMEM43 Sarah Milton reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313022, 26840987; Phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM#604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.167 FASTKD2 Zornitza Stark Marked gene: FASTKD2 as ready
Cardiomyopathy_Paediatric v1.167 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.167 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to FASTKD2-related infantile mitochondrial encephalomyopathy, MONDO:0015632
Cardiomyopathy_Paediatric v1.166 FASTKD2 Zornitza Stark Publications for gene: FASTKD2 were set to 28499982
Cardiomyopathy_Paediatric v1.165 FASTKD2 Zornitza Stark Classified gene: FASTKD2 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.165 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.164 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Cardiomyopathy_Paediatric v1.164 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.164 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; DCM; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Hypertrophic-hypocontractile cardiomyopathy to methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184
Cardiomyopathy_Paediatric v1.163 MMACHC Zornitza Stark Publications for gene: MMACHC were set to 27604308
Cardiomyopathy_Paediatric v1.162 MMACHC Zornitza Stark Classified gene: MMACHC as Green List (high evidence)
Cardiomyopathy_Paediatric v1.162 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.161 TSFM Zornitza Stark Marked gene: TSFM as ready
Cardiomyopathy_Paediatric v1.161 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.161 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from 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 to Combined oxidative phosphorylation deficiency 3, MIM# 610505
Cardiomyopathy_Paediatric v1.160 TSFM Zornitza Stark Publications for gene: TSFM were set to 27604308
Cardiomyopathy_Paediatric v1.159 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM# 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.159 DSC2 Zornitza Stark Marked gene: DSC2 as ready
Cardiomyopathy_Paediatric v1.159 DSC2 Zornitza Stark Gene: dsc2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.159 SDHD Sarah Milton Marked gene: SDHD as ready
Cardiomyopathy_Paediatric v1.159 SDHD Sarah Milton Gene: sdhd has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.159 DSC2 Zornitza Stark Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair to familial isolated arrhythmogenic right ventricular dysplasia, MONDO:0016342
Cardiomyopathy_Paediatric v1.158 SDHD Sarah Milton Classified gene: SDHD as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.158 SDHD Sarah Milton Gene: sdhd has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.157 SDHD Sarah Milton reviewed gene: SDHD: Rating: AMBER; Mode of pathogenicity: None; Publications: 34012134, 26008905; Phenotypes: Mitochondrial complex II deficiency, Nuclear type 3 MIM#619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.157 DSC2 Zornitza Stark Publications for gene: DSC2 were set to
Cardiomyopathy_Paediatric v1.156 DSC2 Zornitza Stark Mode of inheritance for gene: DSC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.155 DSC2 Zornitza Stark Classified gene: DSC2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.155 DSC2 Zornitza Stark Gene: dsc2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.154 FKTN Zornitza Stark Marked gene: FKTN as ready
Cardiomyopathy_Paediatric v1.154 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.154 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from 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) to dilated cardiomyopathy 1X, MONDO:0012704; muscular dystrophy-dystroglycanopathy, type A, MONDO:0000171
Cardiomyopathy_Paediatric v1.153 FKTN Zornitza Stark Publications for gene: FKTN were set to 27604308
Cardiomyopathy_Paediatric v1.152 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Cardiomyopathy_Paediatric v1.152 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.152 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from Mitochondrial complex I deficiency, nuclear type 7, 618229 to Mitochondrial complex I deficiency, nuclear type 7, MIM#618229
Cardiomyopathy_Paediatric v1.151 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Cardiomyopathy_Paediatric v1.150 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Cardiomyopathy_Paediatric v1.150 GATA6 Zornitza Stark Gene: gata6 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.150 GATA6 Zornitza Stark Phenotypes for gene: GATA6 were changed from to dilated cardiomyopathy, MONDO:0005021, GATA6-related
Cardiomyopathy_Paediatric v1.149 GATA6 Zornitza Stark Publications for gene: GATA6 were set to
Cardiomyopathy_Paediatric v1.148 GATA6 Zornitza Stark Classified gene: GATA6 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.148 GATA6 Zornitza Stark Gene: gata6 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.147 GATA6 Zornitza Stark reviewed gene: GATA6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: dilated cardiomyopathy, MONDO:0005021, GATA6-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.147 GATA6 Sarah Milton reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: None; Publications: 35962153; Phenotypes: dilated cardiomyopathy, MONDO:0005021, GATA6-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.147 NDUFV2 Richard Lin reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 12754703, 19167255, 26008862; Phenotypes: Leigh syndrome, MONDO:0009723, Mitochondrial complex I deficiency, nuclear type 7, MIM: 618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.147 FKTN Richard Lin reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17036286, 23746544, 24144914, 27521547, 35743126; Phenotypes: dilated cardiomyopathy 1X, MONDO:0012704, muscular dystrophy-dystroglycanopathy, type A, MONDO:0000171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.147 DSC2 Richard Lin changed review comment from: Two studies report 3 unrelated patients with biallelic DSC2 variants and paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants in DSC2 are likely VUS.

PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected.
PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy
PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly; to: Association between heterozygous variants and arrhythmogenic right ventricular dysplasia classified as definitive by ClinGen. Reported cases are adult-onset disease.

Two studies report 3 unrelated patients with biallelic DSC2 variants and paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507), though reported variants are likely VUS.

PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected.
PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy
PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalises at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly
Cardiomyopathy_Paediatric v1.147 DSC2 Richard Lin changed review comment from: Two studies report 3 unrelated patients with paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants are likely VUS.

PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected.
PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy
PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly; to: Two studies report 3 unrelated patients with biallelic DSC2 variants and paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants in DSC2 are likely VUS.

PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected.
PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy
PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly
Cardiomyopathy_Paediatric v1.147 DSC2 Richard Lin changed review comment from: Two studies report 3 unrelated patients with paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants are likely VUS.

PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected.
PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy
PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly; to: Two studies report 3 unrelated patients with paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants are likely VUS.

PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected.
PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy
PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly
Cardiomyopathy_Paediatric v1.147 DSC2 Richard Lin reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMIDs: 20197793, 24793512, 26310507; Phenotypes: Syndromic disease, MONDO:0002254, familial isolated arrhythmogenic right ventricular dysplasia, MONDO:0016342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.147 TSFM Richard Lin reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 35071363, 31451716, 31267352, 27677415, 25037205, 21741925, 17033963; Phenotypes: Mitochondrial disease, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.147 TMEM70 Richard Lin reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 20335238, 26550569, 27649480, 30899493, 30950220, 31729175, 36751706; Phenotypes: mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MONDO:0013546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.147 MMACHC Richard Lin changed review comment from: Biallelic variants in MMACHC are associated with Cobalamin C deficiency (cblC deficiency), a multisystemic condition.

Cardiomyopathy is described to occur in 10-25% of patients with early onset (below the age of 1 year) MMACHC-associated cblC deficiency in the 2026 Remethylation Disorders guidelines (PMID: 42231716). The predominant cardiomyopathy phenotype is left ventricular non compaction cardiomyopathy (PMIDs: 19767224, 20632110, 23430797, 24599607, 40830795, 42231716). Paediatric onset dilated cardiomyopathy has also been rarely reported (PMID: 19248038, 33562640, 38745823); to: Biallelic variants in MMACHC are associated with Cobalamin C deficiency (cblC deficiency), a multisystemic condition.

Cardiomyopathy is described to occur in 10-25% of patients with early onset (below the age of 1 year) MMACHC-associated cblC deficiency in the 2026 Remethylation Disorders guidelines (PMID: 42231716). The predominant cardiomyopathy phenotype is left ventricular non compaction cardiomyopathy (PMIDs: 19767224, 20632110, 23430797, 24599607, 40830795, 42231716). Paediatric onset dilated cardiomyopathy has also been rarely reported (PMID: 19248038, 33562640, 38745823)
Cardiomyopathy_Paediatric v1.147 PCCB Zornitza Stark Marked gene: PCCB as ready
Cardiomyopathy_Paediatric v1.147 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.147 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from 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 to propionic acidemia, MONDO:0011628
Cardiomyopathy_Paediatric v1.146 PCCB Zornitza Stark Publications for gene: PCCB were set to 27604308
Cardiomyopathy_Paediatric v1.145 PCCB Zornitza Stark reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 37529955, 36768524, 36393899, 34203287; Phenotypes: propionic acidemia, MONDO:0011628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.145 HADHB Zornitza Stark Marked gene: HADHB as ready
Cardiomyopathy_Paediatric v1.145 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.145 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from 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) to mitochondrial trifunctional protein deficiency, MONDO:0012172
Cardiomyopathy_Paediatric v1.144 HADHB Zornitza Stark Publications for gene: HADHB were set to 27604308
Cardiomyopathy_Paediatric v1.143 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 39088276, 28515471; Phenotypes: mitochondrial trifunctional protein deficiency, MONDO:0012172; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.143 HADHA Zornitza Stark Marked gene: HADHA as ready
Cardiomyopathy_Paediatric v1.143 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.143 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from 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) to mitochondrial trifunctional protein deficiency, MONDO:0012172
Cardiomyopathy_Paediatric v1.142 HADHA Zornitza Stark Publications for gene: HADHA were set to 27604308
Cardiomyopathy_Paediatric v1.141 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 39088276, 37754774, 35677112, 32999401, 28515471; Phenotypes: mitochondrial trifunctional protein deficiency, MONDO:0012172; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.141 MMACHC Richard Lin reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19248038, 19767224, 20632110, 23430797, 24599607, 33562640, 38745823, 40830795, 42231716; Phenotypes: methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.141 FASTKD2 Richard Lin changed review comment from: PMID 31944455 reports 3 unrelated families with biallelic loss-of-function FASTKD2 variants causing mitochondrial disease; one family presented with childhood‑onset hypertrophic cardiomyopathy. A zebrafish knockdown model showed a decreased heart rate, structural cardiac morphology was not specifically commented by the authors.

PMID: 39094958 reports an adult diagnosed with hypertrophic cardiomyopathy diagnosed at age 37, with CKD, found to be homozygous for a FASTDK2 missense variant c.29G>C p.(Ser10Thr).

PMID: 38111113 reports a 39 year old patient with cardiomyopathy and nephropathy and a FASTKD2: c.29G>C (zygosity unknown), with the same authors as PMID: 39094958. Presumed to be the same patient.

Current evidence is insufficient for diagnostic grade classification for paediatric cardiomyopathy because only a single family with paediatric cardiomyopathy is reported.; to: PMID 31944455 reports 3 unrelated families with biallelic loss-of-function FASTKD2 variants causing mitochondrial disease; one family presented with childhood‑onset hypertrophic cardiomyopathy. A zebrafish knockdown model showed a decreased heart rate, structural cardiac morphology was not specifically commented by the authors.

PMID: 39094958 reports an adult diagnosed with hypertrophic cardiomyopathy diagnosed at age 37, with CKD, found to be homozygous for a FASTDK2 missense variant c.29G>C p.(Ser10Thr).

PMID: 38111113 reports a 39 year old patient with cardiomyopathy and nephropathy and a FASTKD2: c.29G>C variant (zygosity unknown), with the same authors as PMID: 39094958. Presumed to be the same patient.

Current evidence is insufficient for diagnostic grade classification for paediatric cardiomyopathy because only a single family with paediatric cardiomyopathy is reported.
Cardiomyopathy_Paediatric v1.141 FASTKD2 Richard Lin changed review comment from: PMID 31944455 reports 3 unrelated families with biallelic loss-of-function FASTKD2 variants causing mitochondrial disease; one family presented with childhood‑onset hypertrophic cardiomyopathy. A zebrafish knockdown model showed a decreased heart rate, cardiac morphology was not specifically commented by the authors.

PMID: 39094958 reports an adult diagnosed with hypertrophic cardiomyopathy diagnosed at age 37, with CKD, found to be homozygous for a FASTDK2 missense variant c.29G>C p.(Ser10Thr).

PMID: 38111113 reports a 39 year old patient with cardiomyopathy and nephropathy and a FASTKD2: c.29G>C (zygosity unknown), with the same authors as PMID: 39094958. Presumed to be the same patient.

Current evidence is insufficient for diagnostic grade classification for paediatric cardiomyopathy because only a single family with paediatric cardiomyopathy is reported.; to: PMID 31944455 reports 3 unrelated families with biallelic loss-of-function FASTKD2 variants causing mitochondrial disease; one family presented with childhood‑onset hypertrophic cardiomyopathy. A zebrafish knockdown model showed a decreased heart rate, structural cardiac morphology was not specifically commented by the authors.

PMID: 39094958 reports an adult diagnosed with hypertrophic cardiomyopathy diagnosed at age 37, with CKD, found to be homozygous for a FASTDK2 missense variant c.29G>C p.(Ser10Thr).

PMID: 38111113 reports a 39 year old patient with cardiomyopathy and nephropathy and a FASTKD2: c.29G>C (zygosity unknown), with the same authors as PMID: 39094958. Presumed to be the same patient.

Current evidence is insufficient for diagnostic grade classification for paediatric cardiomyopathy because only a single family with paediatric cardiomyopathy is reported.
Cardiomyopathy_Paediatric v1.141 FASTKD2 Richard Lin reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: None; Publications: 31944455; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy, MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.141 IDUA Zornitza Stark Marked gene: IDUA as ready
Cardiomyopathy_Paediatric v1.141 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.141 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from 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 to mucopolysaccharidosis type 1, MONDO:0001586
Cardiomyopathy_Paediatric v1.140 IDUA Zornitza Stark Publications for gene: IDUA were set to 27604308
Cardiomyopathy_Paediatric v1.139 IDUA Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: 41582445, 35893030, 27146977; Phenotypes: mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.139 IDS Zornitza Stark Marked gene: IDS as ready
Cardiomyopathy_Paediatric v1.139 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.139 IDS Zornitza Stark Phenotypes for gene: IDS were changed from MPS II, Hunter disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 2; Mucopolysaccharidosis Type II; Mucopolysaccharidosis II, 309900 to mucopolysaccharidosis type 2, MONDO:0010674
Cardiomyopathy_Paediatric v1.138 IDS Zornitza Stark Publications for gene: IDS were set to 27604308
Cardiomyopathy_Paediatric v1.137 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35882106, 34193122, 32256517, 27146977; Phenotypes: mucopolysaccharidosis type 2, MONDO:0010674; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.137 HRAS Zornitza Stark Marked gene: HRAS as ready
Cardiomyopathy_Paediatric v1.137 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.137 HRAS Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 34964243, 34618388, 31712860, 30732632, 27554254, 25914166; Phenotypes: Costello syndrome, MONDO:0009026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.137 COA6 Zornitza Stark Marked gene: COA6 as ready
Cardiomyopathy_Paediatric v1.137 COA6 Zornitza Stark Gene: coa6 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.137 COA6 Zornitza Stark Phenotypes for gene: COA6 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, MONDO:0014668
Cardiomyopathy_Paediatric v1.136 COA6 Zornitza Stark Publications for gene: COA6 were set to 25339201; 22277967; 25959673; 24549041
Cardiomyopathy_Paediatric v1.135 COA6 Zornitza Stark reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160915, 25959673; Phenotypes: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, MONDO:0014668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.135 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM to Noonan syndrome, MONDO:0018997; cardiofaciocutaneous syndrome 1, MONDO:0007265
Cardiomyopathy_Paediatric v1.134 BRAF Zornitza Stark Publications for gene: BRAF were set to 19206169; 21396583
Cardiomyopathy_Paediatric v1.133 BRAF Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 37697378, 35770001, 35024745, 33274568, 30732632, 29704308, 29696744, 27569062; Phenotypes: Noonan syndrome, MONDO:0018997, cardiofaciocutaneous syndrome 1, MONDO:0007265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.133 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Cardiomyopathy_Paediatric v1.133 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.133 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from 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 to malonic aciduria, MONDO:0009556
Cardiomyopathy_Paediatric v1.132 MLYCD Zornitza Stark Publications for gene: MLYCD were set to 27604308; 12955715; 7609455; 9177981
Cardiomyopathy_Paediatric v1.131 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 39069445, 37206471, 37144154, 34884438, 32602666, 31395333, 28781843; Phenotypes: malonic aciduria, MONDO:0009556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.131 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Cardiomyopathy_Paediatric v1.131 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.131 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 3; syndromic HCM; CFC syndrome; LEOPARD syndrome to cardiofaciocutaneous syndrome, MONDO:0015280
Cardiomyopathy_Paediatric v1.130 MAP2K1 Zornitza Stark Publications for gene: MAP2K1 were set to 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583
Cardiomyopathy_Paediatric v1.129 MAP2K1 Zornitza Stark reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37697378, 36777711; Phenotypes: cardiofaciocutaneous syndrome, MONDO:0015280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.129 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Cardiomyopathy_Paediatric v1.129 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.129 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564 to Noonan syndrome 10, MIM# 616564
Cardiomyopathy_Paediatric v1.128 LZTR1 Zornitza Stark Publications for gene: LZTR1 were set to 25795793; 29469822
Cardiomyopathy_Paediatric v1.127 LZTR1 Zornitza Stark reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36357925, 35770001, 30872527, 30732632, 30368668, 29469822; Phenotypes: Noonan syndrome 10, MONDO:0014693; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.127 KRAS Zornitza Stark Publications for gene: KRAS were set to PMID: 21396583
Cardiomyopathy_Paediatric v1.126 KRAS Zornitza Stark reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 32078254, 30732632, 30430033; Phenotypes: Noonan syndrome 3, MONDO:0012371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.126 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Cardiomyopathy_Paediatric v1.126 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.126 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Cardiomyopathy, dilated, 1E; Long QT syndrome to dilated cardiomyopathy 1E MONDO:0011003; arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Cardiomyopathy_Paediatric v1.125 SCN5A Zornitza Stark Publications for gene: SCN5A were set to doi:10. 1007/ s12265-016-9673-5; 24317018
Cardiomyopathy_Paediatric v1.124 SCN5A Zornitza Stark reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39133258, 38731905, 38352122, 36166435, 34884792, 31930659, 31024045; Phenotypes: dilated cardiomyopathy 1E MONDO:0011003, arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.124 RIT1 Zornitza Stark Marked gene: RIT1 as ready
Cardiomyopathy_Paediatric v1.124 RIT1 Zornitza Stark Gene: rit1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.124 RIT1 Zornitza Stark Phenotypes for gene: RIT1 were changed from Noonan syndrome 8; Noonan syndrome type 8; Noonan syndrome 8 615355 to Noonan syndrome 8, MONDO:0014143
Cardiomyopathy_Paediatric v1.123 RIT1 Zornitza Stark Publications for gene: RIT1 were set to 23791108; 24939608; 25124994
Cardiomyopathy_Paediatric v1.122 RIT1 Zornitza Stark reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34887308, 33686258, 30732632, 26757980, 26714497; Phenotypes: Noonan syndrome 8, MONDO:0014143; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.122 RBM20 Zornitza Stark Marked gene: RBM20 as ready
Cardiomyopathy_Paediatric v1.122 RBM20 Zornitza Stark Gene: rbm20 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.122 RBM20 Zornitza Stark Phenotypes for gene: RBM20 were changed from Cardiomyopathy, dilated, 1DD to Cardiomyopathy, dilated, 1DD, MIM#613172
Cardiomyopathy_Paediatric v1.121 RBM20 Zornitza Stark Publications for gene: RBM20 were set to
Cardiomyopathy_Paediatric v1.120 RBM20 Zornitza Stark reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 41175027, 40399739, 40339755, 37593875, 35893073, 34540771, 34011823, 33302605, 32969603, 29367541, 26458567; Phenotypes: Cardiomyopathy, dilated, 1DD, MIM#613172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.120 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Cardiomyopathy_Paediatric v1.120 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.120 NKX2-5 Zornitza Stark Phenotypes for gene: NKX2-5 were changed from Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 to NKX2.5-related congenital, conduction and myopathic heart disease, MONDO:0800441
Cardiomyopathy_Paediatric v1.119 NKX2-5 Zornitza Stark Publications for gene: NKX2-5 were set to
Cardiomyopathy_Paediatric v1.118 NKX2-5 Zornitza Stark reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36357925, 35683556, 34277740, 33082984, 27855642, 27855642, 26913919; Phenotypes: NKX2.5-related congenital, conduction and myopathic heart disease, MONDO:0800441; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.118 FKRP Zornitza Stark Marked gene: FKRP as ready
Cardiomyopathy_Paediatric v1.118 FKRP Zornitza Stark Gene: fkrp has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.118 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to autosomal recessive limb-girdle muscular dystrophy type 2I, MONDO:0011787
Cardiomyopathy_Paediatric v1.117 FKRP Zornitza Stark Publications for gene: FKRP were set to
Cardiomyopathy_Paediatric v1.116 FKRP Zornitza Stark Classified gene: FKRP as Red List (low evidence)
Cardiomyopathy_Paediatric v1.116 FKRP Zornitza Stark Gene: fkrp has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.115 FKRP Zornitza Stark reviewed gene: FKRP: Rating: RED; Mode of pathogenicity: None; Publications: 31671740; Phenotypes: autosomal recessive limb-girdle muscular dystrophy type 2I, MONDO:0011787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.115 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Cardiomyopathy_Paediatric v1.115 BCS1L Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.115 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000 to mitochondrial complex III deficiency nuclear type 1, MONDO:0007415
Cardiomyopathy_Paediatric v1.114 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Cardiomyopathy_Paediatric v1.113 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: 37001142; Phenotypes: mitochondrial complex III deficiency nuclear type 1, MONDO:0007415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.113 MYH6 Zornitza Stark Phenotypes for gene: MYH6 were changed from Cardiomyopathy, familial hypertrophic, 14; Cardiomyopathy, dilated, 1EE to dilated cardiomyopathy 1EE MONDO:0013198; hypertrophic cardiomyopathy MONDO:0005045
Cardiomyopathy_Paediatric v1.112 MYH6 Zornitza Stark Publications for gene: MYH6 were set to
Cardiomyopathy_Paediatric v1.111 MYH6 Zornitza Stark reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: dilated cardiomyopathy 1EE MONDO:0013198, hypertrophic cardiomyopathy MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.111 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Cardiomyopathy_Paediatric v1.111 ETFDH Zornitza Stark Gene: etfdh has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.111 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from 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 to multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Cardiomyopathy_Paediatric v1.110 ETFDH Zornitza Stark Publications for gene: ETFDH were set to 24816252; 27604308
Cardiomyopathy_Paediatric v1.109 ETFDH Zornitza Stark Classified gene: ETFDH as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.109 ETFDH Zornitza Stark Gene: etfdh has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.108 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 30027710; Phenotypes: multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.108 MYLK3 Zornitza Stark Phenotypes for gene: MYLK3 were changed from Dilated cardiomyopathy to dilated cardiomyopathy, MONDO:0005021, MYLK3-related
Cardiomyopathy_Paediatric v1.107 MYLK3 Zornitza Stark edited their review of gene: MYLK3: Added comment: 4 monoallelic families reported – PMID 30690923, PMID 29235529 (2 families), PMID 37128901 and 3 biallelic families – PMID 32870709. A mouse knock‑in model and patient‑derived iPSC‑cardiomyocyte rescue (PMID 37128901) provide functional validation.

Monoallelic association is Moderate by ClinGen.

However, the biallelic association is the one that is pertinent to this panel.; Changed publications: 37128901, 32870709, 30690923, 29235529; Changed phenotypes: dilated cardiomyopathy, MONDO:0005021
Cardiomyopathy_Paediatric v1.107 LAMA4 Zornitza Stark Marked gene: LAMA4 as ready
Cardiomyopathy_Paediatric v1.107 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.107 LAMA4 Zornitza Stark Phenotypes for gene: LAMA4 were changed from to dilated cardiomyopathy 1JJ, MONDO:0014095
Cardiomyopathy_Paediatric v1.106 LAMA4 Zornitza Stark Publications for gene: LAMA4 were set to
Cardiomyopathy_Paediatric v1.105 LAMA4 Zornitza Stark reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 39686469, 39272661, 36270459, 35893073, 35526016, 31024045; Phenotypes: dilated cardiomyopathy 1JJ, MONDO:0014095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.105 TTN Sarah Milton Source South West GLH was removed from TTN.
Source NHS GMS was removed from TTN.
Source ClinGen was added to TTN.
Phenotypes for gene: TTN were changed from Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G to Dilated cardiomyopathy 1G, MONDO:0011400; Hypertrophic cardiomyopathy, MONDO:0005045
Cardiomyopathy_Paediatric v1.104 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Cardiomyopathy_Paediatric v1.104 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.104 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from 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 to glycogen storage disease due to glycogen branching enzyme deficiency, MONDO:0009292
Cardiomyopathy_Paediatric v1.103 GBE1 Zornitza Stark Classified gene: GBE1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.103 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.102 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38516405, 38436530, 38012812, 36830903, 29379554; Phenotypes: glycogen storage disease due to glycogen branching enzyme deficiency, MONDO:0009292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.102 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Cardiomyopathy_Paediatric v1.102 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.102 SMAD4 Zornitza Stark Classified gene: SMAD4 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.102 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.101 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 37529930; 34236823; 27302097; 26420300
Phenotypes for gene: SMAD4 were set to Myhre syndrome, MONDO:0007688
Review for gene: SMAD4 was set to GREEN
Added comment: Well established gene-disease association, restrictive cardiomyopathy is part of the phenotype.
Sources: Literature
Cardiomyopathy_Paediatric v1.100 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Cardiomyopathy_Paediatric v1.100 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.100 MT-ATP6 Zornitza Stark Classified gene: MT-ATP6 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.100 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.99 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 40367733; 40112238; 39119452; 29101127; 27453250
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Review for gene: MT-ATP6 was set to GREEN
Added comment: PMIDs 40367733, 29101127, 39119452, 40112238 and 27453250 collectively report 43 families with MT‑ATP6 variants causing mitochondrial disease phenotypes that include cardiomyopathy. 19 families present with Leigh syndrome and hypertrophic cardiomyopathy and 23 families with mitochondrial proton‑transporting ATP synthase complex deficiency and paediatric cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.98 PPP1CB Zornitza Stark Marked gene: PPP1CB as ready
Cardiomyopathy_Paediatric v1.98 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.98 PPP1CB Zornitza Stark Phenotypes for gene: PPP1CB were changed from Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 to Noonan syndrome-like disorder with loose anagen hair 2, MIM#617506
Cardiomyopathy_Paediatric v1.97 PPP1CB Zornitza Stark Publications for gene: PPP1CB were set to 27264673; 28211982; 27681385
Cardiomyopathy_Paediatric v1.96 PPP1CB Zornitza Stark Classified gene: PPP1CB as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.96 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.95 PPP1CB Zornitza Stark reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: None; Publications: 30368668; Phenotypes: Noonan syndrome, MONDO:0018997; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.95 COX10 Zornitza Stark Marked gene: COX10 as ready
Cardiomyopathy_Paediatric v1.95 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.95 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from Mitochondrial complex IV deficiency, 220110 to mitochondrial complex IV deficiency, nuclear type 3, MONDO:0033635
Cardiomyopathy_Paediatric v1.94 COX10 Zornitza Stark Publications for gene: COX10 were set to
Cardiomyopathy_Paediatric v1.93 COX10 Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.93 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.92 COX10 Zornitza Stark reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 30588737, 12928484; Phenotypes: mitochondrial complex IV deficiency, nuclear type 3, MONDO:0033635; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.92 NF1 Zornitza Stark Marked gene: NF1 as ready
Cardiomyopathy_Paediatric v1.92 NF1 Zornitza Stark Gene: nf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.92 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 162200; Neurofibromatosis Noonan syndrome; Neurofibromatosis syndrome 1; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis-Noonan Syndrome; Noonan syndrome to neurofibromatosis type 1, MONDO:0018975
Cardiomyopathy_Paediatric v1.91 NF1 Zornitza Stark Publications for gene: NF1 were set to 16380919; 19845691; 12707950
Cardiomyopathy_Paediatric v1.90 NF1 Zornitza Stark Classified gene: NF1 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.90 NF1 Zornitza Stark Gene: nf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.89 NF1 Zornitza Stark reviewed gene: NF1: Rating: RED; Mode of pathogenicity: None; Publications: 30949358, 30919579; Phenotypes: neurofibromatosis type 1, MONDO:0018975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.89 SHOC2 Zornitza Stark Marked gene: SHOC2 as ready
Cardiomyopathy_Paediatric v1.89 SHOC2 Zornitza Stark Gene: shoc2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.89 SHOC2 Zornitza Stark Phenotypes for gene: SHOC2 were changed from Noonan-like syndrome with loose anagen hair; syndromic HCM to Noonan syndrome-like disorder with loose anagen hair, MONDO:0011899
Cardiomyopathy_Paediatric v1.88 SHOC2 Zornitza Stark reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32870709, 31059601, 30732632; Phenotypes: Noonan syndrome-like disorder with loose anagen hair, MONDO:0011899; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.88 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Cardiomyopathy_Paediatric v1.88 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.88 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from Mitochondrial complex I deficiency, nuclear type 11, 618234 to mitochondrial complex I deficiency, nuclear type 11, MONDO:0032617
Cardiomyopathy_Paediatric v1.87 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Cardiomyopathy_Paediatric v1.86 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39821332, 21931170, 17557076; Phenotypes: mitochondrial complex I deficiency, nuclear type 11, MONDO:0032617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.86 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Cardiomyopathy_Paediatric v1.86 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.86 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from Noonan syndrome; Noonan syndrome 4; Noonan syndrome 4 610733; syndromic HCM to Noonan syndrome 4, MIM# 610733
Cardiomyopathy_Paediatric v1.85 SOS1 Zornitza Stark reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31712860, 31368652, 31024045, 30732632, 29696744; Phenotypes: Noonan syndrome, MONDO:0018997; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.85 PNPLA2 Zornitza Stark Marked gene: PNPLA2 as ready
Cardiomyopathy_Paediatric v1.85 PNPLA2 Zornitza Stark Gene: pnpla2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.85 PNPLA2 Zornitza Stark Phenotypes for gene: PNPLA2 were changed from DCM; Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes; Neutral lipid storage disease with myopathy NLSDM to neutral lipid storage myopathy, MONDO:0012545
Cardiomyopathy_Paediatric v1.84 PNPLA2 Zornitza Stark Publications for gene: PNPLA2 were set to
Cardiomyopathy_Paediatric v1.83 PNPLA2 Zornitza Stark Classified gene: PNPLA2 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.83 PNPLA2 Zornitza Stark Gene: pnpla2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.82 PNPLA2 Zornitza Stark reviewed gene: PNPLA2: Rating: RED; Mode of pathogenicity: None; Publications: 39119584, 31655616; Phenotypes: neutral lipid storage myopathy, MONDO:0012545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.82 NONO Zornitza Stark edited their review of gene: NONO: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.82 NONO Zornitza Stark Marked gene: NONO as ready
Cardiomyopathy_Paediatric v1.82 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.82 NONO Zornitza Stark Phenotypes for gene: NONO were changed from to syndromic X-linked intellectual disability 34, MONDO:0010501
Cardiomyopathy_Paediatric v1.81 NONO Zornitza Stark Publications for gene: NONO were set to
Cardiomyopathy_Paediatric v1.80 NONO Zornitza Stark Mode of inheritance for gene: NONO was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.79 NONO Zornitza Stark reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: None; Publications: 41727761, 41705901, 41213470, 39709004, 38469091, 38110236, 37533431, 36653413, 36426740, 34549882, 33304389, 31883306, 30773818, 27550220, 27329731; Phenotypes: syndromic X-linked intellectual disability 34, MONDO:0010501; 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 v1.79 BAG3 Zornitza Stark Marked gene: BAG3 as ready
Cardiomyopathy_Paediatric v1.79 BAG3 Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.79 BAG3 Zornitza Stark Phenotypes for gene: BAG3 were changed from Cardiomyopathy, dilated, 1HH to myofibrillar myopathy 6, MONDO:0013061; dilated cardiomyopathy 1HH, MONDO:0013479
Cardiomyopathy_Paediatric v1.78 BAG3 Zornitza Stark Publications for gene: BAG3 were set to
Cardiomyopathy_Paediatric v1.77 BAG3 Zornitza Stark reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40757566, 40493734, 39706847, 34011823, 30442290, 30384889, 27443559; Phenotypes: myofibrillar myopathy 6, MONDO:0013061, dilated cardiomyopathy 1HH, MONDO:0013479; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.77 DTNA Zornitza Stark changed review comment from: PMID 38551768 reports a sinlge individual with a heterozygous DTNA missense variant (p.Gln201Arg) presenting with hypertrophic cardiomyopathy; PMID 29118297 reports another individual with a heterozygous DTNA missense variant (p.N49S) presenting with left ventricular noncompaction cardiomyopathy; a transgenic mouse model overexpressing p.N49S recapitulates LVNC‑like hyper‑trabeculation and dilated cardiomyopathy.; to: PMID 38551768 reports a sinlge individual with a heterozygous DTNA missense variant (p.Gln201Arg) presenting with hypertrophic cardiomyopathy; PMID 29118297 reports another individual with a heterozygous DTNA missense variant (p.N49S) presenting with left ventricular noncompaction cardiomyopathy; a transgenic mouse model overexpressing p.N49S recapitulates LVNC‑like hyper‑trabeculation and dilated cardiomyopathy.

Note association with CHD is DISPUTED.
Cardiomyopathy_Paediatric v1.77 DTNA Zornitza Stark Marked gene: DTNA as ready
Cardiomyopathy_Paediatric v1.77 DTNA Zornitza Stark Gene: dtna has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.77 DTNA Zornitza Stark Phenotypes for gene: DTNA were changed from Left ventricular noncompaction 1, with or without congenital heart defects, to Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169
Cardiomyopathy_Paediatric v1.76 DTNA Zornitza Stark Publications for gene: DTNA were set to
Cardiomyopathy_Paediatric v1.75 DTNA Zornitza Stark reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: None; Publications: 38551768, 29118297; Phenotypes: left ventricular noncompaction 1, MONDO:0011403; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.75 MIB1 Zornitza Stark Publications for gene: MIB1 were set to 30322850; 23314057
Cardiomyopathy_Paediatric v1.74 MIB1 Zornitza Stark edited their review of gene: MIB1: Added comment: PMID 36325906: Two families (R530X nonsense; V943F missense) reported a third novel frameshift family was reported in PMID 34564127 (c.1582_1589delinsGAGCCC). Variant‑specific rescue in patient‑derived cardiomyocytes (V943F) and a Mib1 knockout mouse model recapitulate the LVNC phenotype.

However, R530X has 64 hets in gnomADv4; V943F has 161 hets.; Changed publications: 40334239, 36325906, 34564127; Changed phenotypes: left ventricular noncompaction 7, MONDO:0014042, MIB1-related
Cardiomyopathy_Paediatric v1.74 ANK2 Zornitza Stark Publications for gene: ANK2 were set to
Cardiomyopathy_Paediatric v1.73 ANK2 Zornitza Stark Tag disputed tag was added to gene: ANK2.
Cardiomyopathy_Paediatric v1.73 ANK2 Zornitza Stark reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: 39866811, 37123301, 31264976, 28196901; Phenotypes: Cardiac arrhythmia, ankyrin-B-related MIM#600919; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.73 MT-ND6 Lucy Spencer Classified gene: MT-ND6 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.73 MT-ND6 Lucy Spencer Gene: mt-nd6 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.72 MT-ND6 Lucy Spencer gene: MT-ND6 was added
gene: MT-ND6 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Publications for gene: MT-ND6 were set to 34933128
Phenotypes for gene: MT-ND6 were set to Mitochondrial disease (MONDO:0044970), MT-ND6-related
Review for gene: MT-ND6 was set to AMBER
Added comment: PMID 34933128 reports 4 new patients and reviews the literature for individuals with Leigh syndrome and m.14453G>A in MT-ND6. 2 of the individuals were noted to have childhood/infantile onset HCM.
Sources: Literature
Cardiomyopathy_Paediatric v1.71 TANGO2 Lucy Spencer Classified gene: TANGO2 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.71 TANGO2 Lucy Spencer Gene: tango2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.70 TANGO2 Lucy Spencer gene: TANGO2 was added
gene: TANGO2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 40156300; 35568137
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878
Review for gene: TANGO2 was set to GREEN
Added comment: PMID: 40156300 reports 2 probands with biallelic TANGO2 variants with cardiomyopathy as part of a broader TANGO2-associated phenotype.

PMID: 35568137 Cohort of 27 children with TANGO2 deficiency disorder, 19 developed cardiomyopathy
Sources: Literature
Cardiomyopathy_Paediatric v1.69 TREX1 Lucy Spencer Classified gene: TREX1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.69 TREX1 Lucy Spencer Gene: trex1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.68 TREX1 Lucy Spencer gene: TREX1 was added
gene: TREX1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 25604658; 36581356
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750
Review for gene: TREX1 was set to GREEN
Added comment: PMID: 25604658 infantile onset hypertrophic cardiomyopathy reported in 9/79 individuals with TREX1 related Aicardi-Goutieres syndrome. This paper includes both recessive and dominant TREX1 patients, it is unclear which have HCM.

PMID 36581356 reports one proband with Aicardi-Goutieres syndrome diagnosed with cardiomyopathy in utero. The proband was homozygous for a TREX1 frameshift variant.
Sources: Literature
Cardiomyopathy_Paediatric v1.67 TKFC Rylee Peters Marked gene: TKFC as ready
Cardiomyopathy_Paediatric v1.67 TKFC Rylee Peters Gene: tkfc has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.67 TKFC Rylee Peters Classified gene: TKFC as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.67 TKFC Rylee Peters Gene: tkfc has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.66 TKFC Rylee Peters gene: TKFC was added
gene: TKFC was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 39251934; 32004446
Phenotypes for gene: TKFC were set to Triokinase and FMN cyclase deficiency syndrome, MIM#618805
Review for gene: TKFC was set to AMBER
Added comment: PMID: 32004446 reports 4 individuals from 2 consanguineous families with homozygous variants in TKFC. The first family had 2 children with phenotypes including cataract, lactic acidosis, cardiomyopathy. The second family had one child with cataracts and poor weight gain and one child with isolated delayed speech and learning difficulties.

PMID: 39251934 reports 2 individuals from 1 consanguineous family with a homozygous TKFC missense variant presenting with severe skeletal abnormalities, fetal cerebral hypoplasia,
fetal reduced movements, liver dysfunction, and fatal hypertrophic cardiomyopathy. They were also homozygous for a TYR LoF variant.
Sources: Literature
Cardiomyopathy_Paediatric v1.65 NAA10 Rylee Peters Marked gene: NAA10 as ready
Cardiomyopathy_Paediatric v1.65 NAA10 Rylee Peters Gene: naa10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.65 NAA10 Rylee Peters Classified gene: NAA10 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.65 NAA10 Rylee Peters Gene: naa10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.64 NAA10 Rylee Peters gene: NAA10 was added
gene: NAA10 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: NAA10 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: NAA10 were set to 40304357; 40234403; 38335407; 37441566; 37130971; 33335012; 32864149
Phenotypes for gene: NAA10 were set to NAA10-related syndrome, MONDO:0100124
Review for gene: NAA10 was set to GREEN
Added comment: NAA10-related neurodevelopmental syndrome phenotypic spectrum includes variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities. Multiple families also reported with early‑onset cardiomyopathy, predominantly hypertrophic cardiopmyopathy phenotype.
Sources: Literature
Cardiomyopathy_Paediatric v1.63 POPDC2 Rylee Peters Marked gene: POPDC2 as ready
Cardiomyopathy_Paediatric v1.63 POPDC2 Rylee Peters Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.63 POPDC2 Rylee Peters Classified gene: POPDC2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.63 POPDC2 Rylee Peters Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.62 POPDC2 Rylee Peters gene: POPDC2 was added
gene: POPDC2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POPDC2 were set to 41456958; 40409267
Phenotypes for gene: POPDC2 were set to Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367
Review for gene: POPDC2 was set to AMBER
Added comment: Multiple families reported with cardiac conduction and hypertrophic cardiomyopathy (rated GREEN).
AMBER rating given to this panel as there are only 2 reports of paediatric onset of HCM and cardiac conduction disorder (PMIDs: 41456958, 40409267).
Sources: Literature
Cardiomyopathy_Paediatric v1.61 DST Rylee Peters Marked gene: DST as ready
Cardiomyopathy_Paediatric v1.61 DST Rylee Peters Gene: dst has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.61 DST Rylee Peters Classified gene: DST as Green List (high evidence)
Cardiomyopathy_Paediatric v1.61 DST Rylee Peters Gene: dst has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.60 DST Rylee Peters gene: DST was added
gene: DST was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 40497796
Phenotypes for gene: DST were set to Congenital myopathy 29 with contractures, MIM#621510
Review for gene: DST was set to GREEN
Added comment: PMID: 40497796 reports several unrelated families with biallelic loss‑of‑function DST‑b variants presenting with severe congenital myopathy, arthrogryposis, neonatal hypotonia and cardiomyopathy (DCM was identified in 9/14 individuals). Most required respiratory support in infancy, seven died before age three from heart failure.
Sources: Literature
Cardiomyopathy_Paediatric v1.59 BOLA3 Rylee Peters Marked gene: BOLA3 as ready
Cardiomyopathy_Paediatric v1.59 BOLA3 Rylee Peters Gene: bola3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.59 BOLA3 Rylee Peters Classified gene: BOLA3 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.59 BOLA3 Rylee Peters Gene: bola3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.58 BOLA3 Rylee Peters gene: BOLA3 was added
gene: BOLA3 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BOLA3 were set to 40273865
Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299
Review for gene: BOLA3 was set to GREEN
Added comment: PMID: 40273865 describes several unrelated families with biallelic BOLA3 variants causing early‑infantile multiple mitochondrial dysfunction syndrome 2 (MMDS2) that frequently includes hypertrophic cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.57 C10orf71 Sarah Milton Classified gene: C10orf71 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.57 C10orf71 Sarah Milton Gene: c10orf71 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.56 C10orf71 Sarah Milton gene: C10orf71 was added
gene: C10orf71 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: C10orf71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C10orf71 were set to 38950288
Phenotypes for gene: C10orf71 were set to Cardiomyopathy, dilated, 1QQ, MIM# 621251
Review for gene: C10orf71 was set to GREEN
Added comment: Loss of function variants in C10ORF71 have been associated with adult onset dilated cardiomyopathy, PMID 38950288 reports 3 cases of paediatric onset DCM ages 7-12 from 3 separate families.
Sources: Literature
Cardiomyopathy_Paediatric v1.55 TRIM37 Sarah Milton Classified gene: TRIM37 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.55 TRIM37 Sarah Milton Gene: trim37 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.54 TRIM37 Sarah Milton edited their review of gene: TRIM37: Changed phenotypes: Mulibrey nanism, MIM#253250
Cardiomyopathy_Paediatric v1.54 TRIM37 Sarah Milton gene: TRIM37 was added
gene: TRIM37 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM37 were set to 41702694; 38116000; 36742244
Phenotypes for gene: TRIM37 were set to mulibrey nanism, MONDO:0009664
Review for gene: TRIM37 was set to GREEN
Added comment: Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset and characteristic facial features, along with occasional restrictive cardiomyopathy/restrictive pericarditis, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor. Numerous case reports with biallelic variants in the TRIM37 gene, which encodes a peroxisomal protein.
Sources: Literature
Cardiomyopathy_Paediatric v1.53 MAP3K7 Zornitza Stark Marked gene: MAP3K7 as ready
Cardiomyopathy_Paediatric v1.53 MAP3K7 Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.53 MED12 Zornitza Stark Marked gene: MED12 as ready
Cardiomyopathy_Paediatric v1.53 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.53 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Cardiomyopathy_Paediatric v1.53 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.53 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Cardiomyopathy_Paediatric v1.53 NEK8 Zornitza Stark Gene: nek8 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.53 PIGA Zornitza Stark Marked gene: PIGA as ready
Cardiomyopathy_Paediatric v1.53 PIGA Zornitza Stark Gene: piga has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.53 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Cardiomyopathy_Paediatric v1.53 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.53 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Cardiomyopathy_Paediatric v1.53 ALG3 Zornitza Stark Gene: alg3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.53 CHKB Zornitza Stark Marked gene: CHKB as ready
Cardiomyopathy_Paediatric v1.53 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.53 CHKB Zornitza Stark Classified gene: CHKB as Green List (high evidence)
Cardiomyopathy_Paediatric v1.53 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.52 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Cardiomyopathy_Paediatric v1.52 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.52 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Cardiomyopathy_Paediatric v1.52 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.52 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Cardiomyopathy_Paediatric v1.52 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.52 NDUFA5 Zornitza Stark Marked gene: NDUFA5 as ready
Cardiomyopathy_Paediatric v1.52 NDUFA5 Zornitza Stark Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.52 NDUFA5 Zornitza Stark Phenotypes for gene: NDUFA5 were changed from Mitochondrial disease, MONDO:0044970 to Mitochondrial disease, MONDO:0044970, NDUFA5-related
Cardiomyopathy_Paediatric v1.51 QRSL1 Zornitza Stark Marked gene: QRSL1 as ready
Cardiomyopathy_Paediatric v1.51 QRSL1 Zornitza Stark Gene: qrsl1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.51 QRSL1 Sarah Milton Classified gene: QRSL1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.51 QRSL1 Sarah Milton Gene: qrsl1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.50 QRSL1 Sarah Milton gene: QRSL1 was added
gene: QRSL1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: QRSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QRSL1 were set to 35894854; 30283131; 29440775
Phenotypes for gene: QRSL1 were set to Combined oxidative phosphorylation deficiency 40, MIM#618835
Review for gene: QRSL1 was set to GREEN
Added comment: PMID 29440775, PMID 30283131 and PMID 35894854 report a number of individuals with biallelic loss-of-function QRSL1 variants resulting in combined oxidative phosphorylation deficiency 40, characterised by a multisystem mitochondrial disease featuring early‑onset (prenatal/neonatal) hypertrophic cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.49 NDUFA5 Sarah Milton Classified gene: NDUFA5 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.49 NDUFA5 Sarah Milton Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.48 NDUFA5 Sarah Milton edited their review of gene: NDUFA5: Changed phenotypes: Mitochondrial disease, MONDO:0044970, NDUFA5-related
Cardiomyopathy_Paediatric v1.48 NDUFA5 Sarah Milton gene: NDUFA5 was added
gene: NDUFA5 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: NDUFA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA5 were set to 41916321
Phenotypes for gene: NDUFA5 were set to Mitochondrial disease, MONDO:0044970
Review for gene: NDUFA5 was set to AMBER
Added comment: PMID 41916321 reports 4 individuals from 3 unrelated families with biallelic loss-of-function NDUFA5 variants presenting with early onset multisystem mitochondrial disorder with complex I deficiency. One individual had hypertrophic cardiomyopathy and one had slight biventricular hypertrophy.

Paediatric onset HCM is likely to be a feature of this disorder given it is seen in other complex I deficiencies however few patients have been reported thus far.
Sources: Literature
Cardiomyopathy_Paediatric v1.47 LETM1 Sarah Milton changed review comment from: PMID 36055214 reports 18 individuals from 11 families (collapsed to 9 independent families) with biallelic LETM1 loss-of-function or missense variants presenting with childhood-onset mitochondrial disease that occasionally includes hypertrophic cardiomyopathy (36% of cases).
Sources: Literature; to: PMID 36055214 reports 18 individuals from 11 families (collapsed to 9 independent families) with biallelic LETM1 loss-of-function or missense variants presenting with childhood-onset mitochondrial disease that occasionally includes paediatric onset hypertrophic cardiomyopathy (36% of cases).
Sources: Literature
Cardiomyopathy_Paediatric v1.47 LETM1 Sarah Milton Classified gene: LETM1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.47 LETM1 Sarah Milton Gene: letm1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.46 LETM1 Sarah Milton gene: LETM1 was added
gene: LETM1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, MONDO:0859304
Review for gene: LETM1 was set to GREEN
Added comment: PMID 36055214 reports 18 individuals from 11 families (collapsed to 9 independent families) with biallelic LETM1 loss-of-function or missense variants presenting with childhood-onset mitochondrial disease that occasionally includes hypertrophic cardiomyopathy (36% of cases).
Sources: Literature
Cardiomyopathy_Paediatric v1.45 FBXL4 Sarah Milton Classified gene: FBXL4 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.45 FBXL4 Sarah Milton Gene: fbxl4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.44 FBXL4 Sarah Milton gene: FBXL4 was added
gene: FBXL4 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL4 were set to 28940506
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM#615471
Review for gene: FBXL4 was set to GREEN
Added comment: PMID 28940506 reports 87 individuals from 72 unrelated families with biallelic loss‑of‑function FBXL4 variants causing mitochondrial DNA depletion syndrome 13. An early onset multisystem disease characterised by lactic acidosis, developmental delay, hypotonia and hypertrophic cardiomyopathy in ~20 % of cases.
Sources: Literature
Cardiomyopathy_Paediatric v1.43 COQ2 Sarah Milton Classified gene: COQ2 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.43 COQ2 Sarah Milton Gene: coq2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.42 COQ2 Sarah Milton gene: COQ2 was added
gene: COQ2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ2 were set to 40929079; 33677064
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM#607426
Review for gene: COQ2 was set to GREEN
Added comment: Biallelic loss of function in COQ2 results in a wide spectrum of disease with the most severe being multisystem neonatal onset form with severity of presentation correlating to level of residual enzyme activity.

Hypertrophic cardiomyopathy has been reported in a small number of individuals with the severe neonatal form.

Note the small number of papers asserting a degree of treatment response to COQ10/4-hydroxybenzoic acid
Sources: Literature
Cardiomyopathy_Paediatric v1.41 CHKB Sarah Milton gene: CHKB was added
gene: CHKB was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 39465137; 34962344; 33623274; 27123443; 26067811; 25740612
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Review for gene: CHKB was set to GREEN
Added comment: PMID 26067811, PMID 34962344, PMID 25740612, PMID 27123443, PMID 39465137 and PMID 33623274 collectively report a number of individuals with biallelic loss‑of‑function CHKB variants causing megaconial congenital muscular dystrophy, frequently presenting with early‑onset dilated cardiomyopathy together with muscle weakness, developmental delay and ichthyosis.
Sources: Literature
Cardiomyopathy_Paediatric v1.40 ALG3 Sarah Milton Classified gene: ALG3 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.40 ALG3 Sarah Milton Gene: alg3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.39 ALG3 Sarah Milton gene: ALG3 was added
gene: ALG3 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 38917675; 31067009
Phenotypes for gene: ALG3 were set to ALG3-congenital disorder of glycosylation, MONDO:0010998
Review for gene: ALG3 was set to AMBER
Added comment: PMID 31067009 reports one ALG3-CDG patient with biallelic loss‑of‑function variants and hypertrophic cardiomyopathy. PMID 38917675 reports a patient with a homozygous ALG3 VUS and dilated cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.38 SLC6A8 Lucy Spencer Classified gene: SLC6A8 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.38 SLC6A8 Lucy Spencer Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.37 SLC6A8 Lucy Spencer gene: SLC6A8 was added
gene: SLC6A8 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 34050321
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1 MIM#300352
Review for gene: SLC6A8 was set to AMBER
Added comment: PMID 34050321 describe 2 individuals with creatine transporter deficiency and mild cardiomyopathy and state that a few more patients in their cohort have signed of 'developing cardiomyopathy' on ECG/echo.
Sources: Literature
Cardiomyopathy_Paediatric v1.36 PIGA Lucy Spencer Classified gene: PIGA as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.36 PIGA Lucy Spencer Gene: piga has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.35 PIGA Lucy Spencer gene: PIGA was added
gene: PIGA was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIGA were set to 32452540; 37489290
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868
Review for gene: PIGA was set to AMBER
Added comment: PMID 32452540 lists cardiomyopathy as a feature in 3 of their 76 patients with multiple congenital anomalies-hypotonia-seizures syndrome.

PMID 37489290 reports 4 unrelated patients with PIGA encephalopathy and DCM (1 overlaps with PMID 32452540). Also report a further 2 individuals with PIGA-related encephalopathy and left/right ventricular hypertrophy.
Sources: Literature
Cardiomyopathy_Paediatric v1.34 NEK8 Lucy Spencer Classified gene: NEK8 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.34 NEK8 Lucy Spencer Gene: nek8 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.33 NEK8 Lucy Spencer gene: NEK8 was added
gene: NEK8 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK8 were set to 26967905
Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2 MIM#615415
Review for gene: NEK8 was set to AMBER
Added comment: PMID 26967905 in a cohort of 5 families with recessive NEK8 ciliopathies 2 patients had HCM and or cardiac septal hyperplasia as part of a broader syndrome.
Sources: Literature
Cardiomyopathy_Paediatric v1.32 MTO1 Lucy Spencer Classified gene: MTO1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.32 MTO1 Lucy Spencer Gene: mto1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.31 MTO1 Lucy Spencer gene: MTO1 was added
gene: MTO1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTO1 were set to 29331171
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10 MIM#614702
Review for gene: MTO1 was set to GREEN
Added comment: PMID 29331171 describe HCM as the most common clinical feature at initial presentation in their cohort of 34 individuals with MTO1 deficiency. 15 patients had HCM at initial presentation, and over time it developed into a total of 27/34 patients with HCM.
Sources: Literature
Cardiomyopathy_Paediatric v1.30 MED12 Lucy Spencer Classified gene: MED12 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.30 MED12 Lucy Spencer Gene: med12 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.29 MED12 Lucy Spencer gene: MED12 was added
gene: MED12 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MED12 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: MED12 were set to 39045790
Phenotypes for gene: MED12 were set to Hardikar syndrome MIM#301068
Review for gene: MED12 was set to GREEN
Added comment: PMID 39045790 in a cohort of 10 individuals with Hardikar syndrome, 6 had cardiomyopathy all under 15 years old.
Sources: Literature
Cardiomyopathy_Paediatric v1.28 MAP3K7 Lucy Spencer Classified gene: MAP3K7 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.28 MAP3K7 Lucy Spencer Gene: map3k7 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.27 MAP3K7 Lucy Spencer gene: MAP3K7 was added
gene: MAP3K7 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K7 were set to 35730652; 40814318; 40909427
Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome MIM#157800
Review for gene: MAP3K7 was set to GREEN
Added comment: PMID 35730652 in a cohort of 12 patients with cardiospondylocarpofacial syndrome, 4 had cardiomyopathy (HCM or DCM). 3 were very early onset, the 4th was an adult at the time of testing but unclear what the age of onset was.

PMID 40814318, 40909427 report a newborn and a 5yo with CSCF syndrome associated with severe early onset DCM.
Sources: Literature
Cardiomyopathy_Paediatric v1.26 FBN1 Lucy Spencer Phenotypes for gene: FBN1 were changed from MONDO:0007947 Marfan Syndrome to Marfan syndrome MIM#154700
Cardiomyopathy_Paediatric v1.25 FBN1 Lucy Spencer Publications for gene: FBN1 were set to PMID: 39900832; 24531548
Cardiomyopathy_Paediatric v1.24 FBN1 Lucy Spencer Classified gene: FBN1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.24 FBN1 Lucy Spencer Gene: fbn1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.23 FBN1 Lucy Spencer reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39379624; Phenotypes: Marfan syndrome MIM#154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.23 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Cardiomyopathy_Paediatric v1.23 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.23 VARS2 Zornitza Stark Classified gene: VARS2 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.23 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.22 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS2 were set to 40563223; 33937156; 31623496; 30458719; 29314548; 27502409
Phenotypes for gene: VARS2 were set to combined oxidative phosphorylation defect type 20, MONDO:0014397
Review for gene: VARS2 was set to GREEN
Added comment: PMID 29314548 reports 13 patients from nine unrelated families with biallelic VARS2 loss‑of‑function variants presenting with early‑onset mitochondrial encephalomyopathy and hypertrophic cardiomyopathy. PMID 40563223 adds four patients from three unrelated families with similar phenotype and demonstrates rescue of a Xenopus VARS2 knockout. Single families with the same phenotype are further described in PMID 27502409, PMID 31623496, PMID 30458719 and PMID 33937156, all harbouring biallelic VARS2 variants and severe paediatric cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.21 TRMT5 Zornitza Stark Marked gene: TRMT5 as ready
Cardiomyopathy_Paediatric v1.21 TRMT5 Zornitza Stark Gene: trmt5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.21 TRMT5 Zornitza Stark Classified gene: TRMT5 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.21 TRMT5 Zornitza Stark Gene: trmt5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.20 TRMT5 Zornitza Stark gene: TRMT5 was added
gene: TRMT5 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT5 were set to 26189817
Phenotypes for gene: TRMT5 were set to combined oxidative phosphorylation defect type 26, MONDO:0014684
Review for gene: TRMT5 was set to AMBER
Added comment: PMID 26189817 reports 2 individuals from 2 families with biallelic TRMT5 variants presenting with childhood‑onset hypertrophic cardiomyopathy and multisystemic mitochondrial disease.
Sources: Literature
Cardiomyopathy_Paediatric v1.19 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Cardiomyopathy_Paediatric v1.19 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.19 SUCLG1 Zornitza Stark Classified gene: SUCLG1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.19 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.18 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLG1 were set to 26475597
Phenotypes for gene: SUCLG1 were set to mitochondrial DNA depletion syndrome 9, MONDO:0009504
Review for gene: SUCLG1 was set to GREEN
Added comment: PMID 26475597 reports 21 individuals from 5 families with biallelic SUCLG1 variants presenting with mitochondrial DNA depletion syndrome 9, characterised by infantile encephalomyopathy, lactic acidosis, hypotonia and hypertrophic cardiomyopathy. Cardiomyopathy was present in around 15%.
Sources: Literature
Cardiomyopathy_Paediatric v1.17 PLEKHM2 Zornitza Stark Marked gene: PLEKHM2 as ready
Cardiomyopathy_Paediatric v1.17 PLEKHM2 Zornitza Stark Gene: plekhm2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.17 PLEKHM2 Zornitza Stark Classified gene: PLEKHM2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.17 PLEKHM2 Zornitza Stark Gene: plekhm2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.16 PLEKHM2 Zornitza Stark gene: PLEKHM2 was added
gene: PLEKHM2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PLEKHM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHM2 were set to 37349842; 36555735; 35862026; 34088011; 26464484
Phenotypes for gene: PLEKHM2 were set to dilated cardiomyopathy, MONDO:0005021, PLEKHM2-related
Review for gene: PLEKHM2 was set to AMBER
Added comment: Five studies (PMID 26464484, PMID 35862026, PMID 34088011, PMID 36555735, PMID 37349842) report biallelic loss‑of‑function variants in PLEKHM2 causing early‑onset dilated cardiomyopathy with left ventricular non‑compaction (DCM‑LVNC), onset in late childhood/early adolescence.

However, note that all but one of the reported families has the same homozygous variant ?founder effect.

Some functional data provided.
Sources: Literature
Cardiomyopathy_Paediatric v1.15 RBM10 Zornitza Stark Marked gene: RBM10 as ready
Cardiomyopathy_Paediatric v1.15 RBM10 Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.15 RBM10 Zornitza Stark Mode of inheritance for gene: RBM10 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.14 RBM10 Zornitza Stark Classified gene: RBM10 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.14 RBM10 Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.13 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RBM10 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: RBM10 were set to 30450804
Phenotypes for gene: RBM10 were set to TARP syndrome, MONDO:0010711
Review for gene: RBM10 was set to GREEN
Added comment: PMID 30450804 reports one individual with X-linked loss-of-function RBM10 variant presenting with hypertrophic obstructive cardiomyopathy as part of TARP syndrome. The syndrome includes talipes, atrial septal defect, Robin sequence and additional anomalies. Paper reviews literature and identifies two previous reports.
Sources: Literature
Cardiomyopathy_Paediatric v1.12 KLHL24 Zornitza Stark Marked gene: KLHL24 as ready
Cardiomyopathy_Paediatric v1.12 KLHL24 Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.12 KLHL24 Zornitza Stark Classified gene: KLHL24 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.12 KLHL24 Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.11 KLHL24 Zornitza Stark gene: KLHL24 was added
gene: KLHL24 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: KLHL24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 41823911; 41258845; 40176835; 37191012; 34740256; 34688992; 32870709; 31649980; 30715372; 30120936; 29779254
Phenotypes for gene: KLHL24 were set to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MIM#620236; Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, MIM# 617294
Review for gene: KLHL24 was set to GREEN
Added comment: PMID 41258845, PMID 31649980, PMID 37191012, PMID 34740256, PMID 34688992, PMID 30715372, PMID 41823911, PMID 40176835 and PMID 32870709 report heterozygous KLKL24 variants causing early‑onset cardiomyopathy in association with EB. Autosomal dominant gain‑of‑function start‑codon variants are found in 34 unrelated families (≥62 patients) with dilated or arrhythmogenic cardiomyopathy together with epidermolysis bullosa simplex.

Autosomal recessive loss‑of‑function variants are found in five unrelated families (≥15 patients) with childhood‑onset hypertrophic cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.10 FXN_FRDA_GAA Zornitza Stark Marked STR: FXN_FRDA_GAA as ready
Cardiomyopathy_Paediatric v1.10 FXN_FRDA_GAA Zornitza Stark Str: fxn_frda_gaa has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.10 Zornitza Stark Copied STR FXN_FRDA_GAA from panel Mendeliome
Cardiomyopathy_Paediatric v1.10 FXN_FRDA_GAA Zornitza Stark STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green,Expert Review Green,Expert list
paediatric-onset tags were added to STR: FXN_FRDA_GAA.
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Cardiomyopathy_Paediatric v1.9 FXN Zornitza Stark Marked gene: FXN as ready
Cardiomyopathy_Paediatric v1.9 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.9 FXN Zornitza Stark Classified gene: FXN as Green List (high evidence)
Cardiomyopathy_Paediatric v1.9 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.8 FXN Zornitza Stark Tag STR tag was added to gene: FXN.
Cardiomyopathy_Paediatric v1.8 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXN were set to 41432640; 40880907; 38396238; 34610949; 32999401
Phenotypes for gene: FXN were set to Friedreich ataxia, MIM# 229300
Review for gene: FXN was set to GREEN
Added comment: Well established gene-disease association.

Hypertrophic cardiomyopathy is a feature. Onset in adolescence/childhood.
Sources: Expert Review
Cardiomyopathy_Paediatric v1.7 ITPA Zornitza Stark Marked gene: ITPA as ready
Cardiomyopathy_Paediatric v1.7 ITPA Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.7 ITPA Zornitza Stark Classified gene: ITPA as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.7 ITPA Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.6 ITPA Zornitza Stark gene: ITPA was added
gene: ITPA was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPA were set to 30856165; 30816001
Phenotypes for gene: ITPA were set to inosine triphosphatase deficiency, MONDO:0013461
Review for gene: ITPA was set to AMBER
Added comment: PMID 30816001 and PMID 30856165 collectively report three unrelated families with biallelic ITPA variants presenting with early infantile encephalopathy (seizures, developmental delay, microcephaly, cataracts) and dilated cardiomyopathy of childhood onset.

DCM present in 3/8 families reported.
Sources: Literature
Cardiomyopathy_Paediatric v1.5 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Cardiomyopathy_Paediatric v1.5 DPM3 Zornitza Stark Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.5 DPM3 Zornitza Stark Classified gene: DPM3 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.5 DPM3 Zornitza Stark Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.4 DPM3 Zornitza Stark gene: DPM3 was added
gene: DPM3 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 35932216
Phenotypes for gene: DPM3 were set to DPM3-congenital disorder of glycosylation, MONDO:0013049
Review for gene: DPM3 was set to AMBER
Added comment: PMID 35932216 reports 5 individuals from 4 families with biallelic homozygous missense DPM3 c.221A>G (p.Tyr74Cys) variants presenting with muscle weakness, developmental delay/intellectual disability, seizures, white‑matter abnormalities and childhood‑onset cardiomyopathy.

Note that most individuals reported with DPM3 variants have had a predominantly skeletal muscle phenotype. AMBER rating as only a single variant has been associated with this much more extensive multi-system phenotype that includes paediatric cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Tag new gene name tag was added to gene: ATP5PO.
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Marked gene: ATP5PO as ready
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Gene: atp5po has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Classified gene: ATP5PO as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Gene: atp5po has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.2 ATP5PO Zornitza Stark gene: ATP5PO was added
gene: ATP5PO was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ATP5PO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5PO were set to 40913360; 35621276
Phenotypes for gene: ATP5PO were set to mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MONDO:0957255
Review for gene: ATP5PO was set to AMBER
Added comment: PMID 40913360 and PMID 35621276 report 4 individuals from 3 families with homozygous splice variant c.87+3A>G in ATP5PO causing early‑onset hypertrophic cardiomyopathy, encephalopathy and hypotonia. The phenotype aligns with mitochondrial complex V (ATP synthase) deficiency, nuclear type 7.

AMBER rating as manifestation only linked to this one specific variant; founder effect?
Sources: Literature
Cardiomyopathy_Paediatric v1.1 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Cardiomyopathy_Paediatric v1.1 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.1 Zornitza Stark Copied gene FBN1 from panel Dilated Cardiomyopathy
Cardiomyopathy_Paediatric v1.1 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to PMID: 39900832; 24531548
Phenotypes for gene: FBN1 were set to MONDO:0007947 Marfan Syndrome
Cardiomyopathy_Paediatric v1.0 PDLIM3 Gene migrated from ENSG00000154553 to ENSG00000154553 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GSN Gene migrated from ENSG00000148180 to ENSG00000148180 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COXFA4 Gene symbol changed from NDUFA4 to COXFA4 during gene set migration (ENSG00000189043 -> ENSG00000189043)
Cardiomyopathy_Paediatric v1.0 TMPO Gene migrated from ENSG00000120802 to ENSG00000120802 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TGFB3 Gene migrated from ENSG00000119699 to ENSG00000119699 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TTC19 Gene migrated from ENSG00000011295 to ENSG00000011295 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TCAP Gene migrated from ENSG00000173991 to ENSG00000173991 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TACO1 Gene migrated from ENSG00000136463 to ENSG00000136463 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SPRED1 Gene migrated from ENSG00000166068 to ENSG00000166068 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NEBL Gene migrated from ENSG00000078114 to ENSG00000078114 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFAF8 Gene migrated from ENSG00000224877 to ENSG00000224877 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFA9 Gene migrated from ENSG00000139180 to ENSG00000139180 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MRPS14 Gene migrated from ENSG00000120333 to ENSG00000120333 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFAF6 Gene migrated from ENSG00000156170 to ENSG00000156170 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFA6 Gene migrated from ENSG00000184983 to ENSG00000184983 (gene set migration)
Cardiomyopathy_Paediatric v1.0 LYRM7 Gene migrated from ENSG00000186687 to ENSG00000186687 (gene set migration)
Cardiomyopathy_Paediatric v1.0 LAMA4 Gene migrated from ENSG00000112769 to ENSG00000112769 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GNS Gene migrated from ENSG00000135677 to ENSG00000135677 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GLRA1 Gene migrated from ENSG00000145888 to ENSG00000145888 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GBE1 Gene migrated from ENSG00000114480 to ENSG00000114480 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GALNS Gene migrated from ENSG00000141012 to ENSG00000141012 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CTF1 Gene migrated from ENSG00000150281 to ENSG00000150281 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ETFB Gene migrated from ENSG00000105379 to ENSG00000105379 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ETFA Gene migrated from ENSG00000140374 to ENSG00000140374 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DTNA Gene migrated from ENSG00000134769 to ENSG00000134769 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DHCR7 Gene migrated from ENSG00000172893 to ENSG00000172893 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CYC1 Gene migrated from ENSG00000179091 to ENSG00000179091 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CPS1 Gene migrated from ENSG00000021826 to ENSG00000021826 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COX6A1 Gene migrated from ENSG00000111775 to ENSG00000111775 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COA7 Gene migrated from ENSG00000162377 to ENSG00000162377 (gene set migration)
Cardiomyopathy_Paediatric v1.0 KIF20A Gene migrated from ENSG00000112984 to ENSG00000112984 (gene set migration)
Cardiomyopathy_Paediatric v1.0 BTK Gene migrated from ENSG00000010671 to ENSG00000010671 (gene set migration)
Cardiomyopathy_Paediatric v1.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Cardiomyopathy_Paediatric v1.0 B3GAT3 Gene migrated from ENSG00000149541 to ENSG00000149541 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COA8 Gene symbol changed from APOPT1 to COA8 during gene set migration (ENSG00000256053 -> ENSG00000256053)
Cardiomyopathy_Paediatric v1.0 ANKRD1 Gene migrated from ENSG00000148677 to ENSG00000148677 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MYH6 Gene migrated from ENSG00000197616 to ENSG00000197616 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ATPAF2 Gene migrated from ENSG00000171953 to ENSG00000171953 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MIB1 Gene migrated from ENSG00000101752 to ENSG00000101752 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ANK2 Gene migrated from ENSG00000145362 to ENSG00000145362 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COA5 Gene migrated from ENSG00000183513 to ENSG00000183513 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GET3 Gene symbol changed from ASNA1 to GET3 during gene set migration (ENSG00000198356 -> ENSG00000198356)
Cardiomyopathy_Paediatric v1.0 ILK Gene migrated from ENSG00000166333 to ENSG00000166333 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MYO19 Gene migrated from ENSG00000278259 to ENSG00000278259 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MT-TI Gene migrated from ENSG00000210100 to ENSG00000210100 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FKRP Gene migrated from ENSG00000181027 to ENSG00000181027 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MMACHC Gene migrated from ENSG00000132763 to ENSG00000132763 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PET100 Gene migrated from ENSG00000229833 to ENSG00000229833 (gene set migration)
Cardiomyopathy_Paediatric v1.0 HGSNAT Gene migrated from ENSG00000165102 to ENSG00000165102 (gene set migration)
Cardiomyopathy_Paediatric v1.0 HFE Gene migrated from ENSG00000010704 to ENSG00000010704 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFAF4 Gene migrated from ENSG00000123545 to ENSG00000123545 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GATA6 Gene migrated from ENSG00000141448 to ENSG00000141448 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FOXRED1 Gene migrated from ENSG00000110074 to ENSG00000110074 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FASTKD2 Gene migrated from ENSG00000118246 to ENSG00000118246 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CRYAB Gene migrated from ENSG00000109846 to ENSG00000109846 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COX7B Gene migrated from ENSG00000131174 to ENSG00000131174 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RHBDF1 Gene migrated from ENSG00000007384 to ENSG00000007384 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CRLS1 Gene migrated from ENSG00000088766 to ENSG00000088766 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COX14 Gene migrated from ENSG00000178449 to ENSG00000178449 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FHL2 Gene migrated from ENSG00000115641 to ENSG00000115641 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RASA2 Gene migrated from ENSG00000155903 to ENSG00000155903 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MCM10 Gene migrated from ENSG00000065328 to ENSG00000065328 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MYLK3 Gene migrated from ENSG00000140795 to ENSG00000140795 (gene set migration)
Cardiomyopathy_Paediatric v1.0 KGD4 Gene symbol changed from MRPS36 to KGD4 during gene set migration (ENSG00000134056 -> ENSG00000134056)
Cardiomyopathy_Paediatric v1.0 NAA15 Gene migrated from ENSG00000164134 to ENSG00000164134 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFA11 Gene migrated from ENSG00000174886 to ENSG00000174886 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COX6B1 Gene migrated from ENSG00000126267 to ENSG00000126267 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MYPN Gene migrated from ENSG00000138347 to ENSG00000138347 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFB7 Gene migrated from ENSG00000099795 to ENSG00000099795 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CDH2 Gene migrated from ENSG00000170558 to ENSG00000170558 (gene set migration)
Cardiomyopathy_Paediatric v1.0 UQCRB Gene migrated from ENSG00000156467 to ENSG00000156467 (gene set migration)
Cardiomyopathy_Paediatric v1.0 WDR59 Gene migrated from ENSG00000103091 to ENSG00000103091 (gene set migration)
Cardiomyopathy_Paediatric v1.0 STX4 Gene migrated from ENSG00000103496 to ENSG00000103496 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NAGLU Gene migrated from ENSG00000108784 to ENSG00000108784 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SCO1 Gene migrated from ENSG00000133028 to ENSG00000133028 (gene set migration)
Cardiomyopathy_Paediatric v1.0 EYA4 Gene migrated from ENSG00000112319 to ENSG00000112319 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SLC30A5 Gene migrated from ENSG00000145740 to ENSG00000145740 (gene set migration)
Cardiomyopathy_Paediatric v1.0 UQCC2 Gene migrated from ENSG00000137288 to ENSG00000137288 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SGSH Gene migrated from ENSG00000181523 to ENSG00000181523 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFB8 Gene migrated from ENSG00000166136 to ENSG00000166136 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SPRED2 Gene migrated from ENSG00000198369 to ENSG00000198369 (gene set migration)
Cardiomyopathy_Paediatric v1.0 JPH2 Gene migrated from ENSG00000149596 to ENSG00000149596 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFS3 Gene migrated from ENSG00000213619 to ENSG00000213619 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFS2 Gene migrated from ENSG00000158864 to ENSG00000158864 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFS1 Gene migrated from ENSG00000023228 to ENSG00000023228 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFB3 Gene migrated from ENSG00000119013 to ENSG00000119013 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFAF5 Gene migrated from ENSG00000101247 to ENSG00000101247 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFAF3 Gene migrated from ENSG00000178057 to ENSG00000178057 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFAF2 Gene migrated from ENSG00000164182 to ENSG00000164182 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFAF1 Gene migrated from ENSG00000137806 to ENSG00000137806 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFA2 Gene migrated from ENSG00000131495 to ENSG00000131495 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFA10 Gene migrated from ENSG00000130414 to ENSG00000130414 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFA1 Gene migrated from ENSG00000125356 to ENSG00000125356 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MYL3 Gene migrated from ENSG00000160808 to ENSG00000160808 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MYH7 Gene migrated from ENSG00000092054 to ENSG00000092054 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MYBPC3 Gene migrated from ENSG00000134571 to ENSG00000134571 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MMUT Gene symbol changed from MUT to MMUT during gene set migration (ENSG00000146085 -> ENSG00000146085)
Cardiomyopathy_Paediatric v1.0 MT-TR Gene migrated from ENSG00000210174 to ENSG00000210174 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MLYCD Gene migrated from ENSG00000103150 to ENSG00000103150 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MAP2K2 Gene migrated from ENSG00000126934 to ENSG00000126934 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MAP2K1 Gene migrated from ENSG00000169032 to ENSG00000169032 (gene set migration)
Cardiomyopathy_Paediatric v1.0 LZTR1 Gene migrated from ENSG00000099949 to ENSG00000099949 (gene set migration)
Cardiomyopathy_Paediatric v1.0 LRPPRC Gene migrated from ENSG00000138095 to ENSG00000138095 (gene set migration)
Cardiomyopathy_Paediatric v1.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Cardiomyopathy_Paediatric v1.0 LAMP2 Gene migrated from ENSG00000005893 to ENSG00000005893 (gene set migration)
Cardiomyopathy_Paediatric v1.0 JUP Gene migrated from ENSG00000173801 to ENSG00000173801 (gene set migration)
Cardiomyopathy_Paediatric v1.0 IDUA Gene migrated from ENSG00000127415 to ENSG00000127415 (gene set migration)
Cardiomyopathy_Paediatric v1.0 IDS Gene migrated from ENSG00000010404 to ENSG00000010404 (gene set migration)
Cardiomyopathy_Paediatric v1.0 IDH2 Gene migrated from ENSG00000182054 to ENSG00000182054 (gene set migration)
Cardiomyopathy_Paediatric v1.0 HRAS Gene migrated from ENSG00000174775 to ENSG00000174775 (gene set migration)
Cardiomyopathy_Paediatric v1.0 HCN4 Gene migrated from ENSG00000138622 to ENSG00000138622 (gene set migration)
Cardiomyopathy_Paediatric v1.0 HADHB Gene migrated from ENSG00000138029 to ENSG00000138029 (gene set migration)
Cardiomyopathy_Paediatric v1.0 HADHA Gene migrated from ENSG00000084754 to ENSG00000084754 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GUSB Gene migrated from ENSG00000169919 to ENSG00000169919 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GLB1 Gene migrated from ENSG00000170266 to ENSG00000170266 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GAA Gene migrated from ENSG00000171298 to ENSG00000171298 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FKTN Gene migrated from ENSG00000106692 to ENSG00000106692 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FHL1 Gene migrated from ENSG00000022267 to ENSG00000022267 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FAH Gene migrated from ENSG00000103876 to ENSG00000103876 (gene set migration)
Cardiomyopathy_Paediatric v1.0 EPG5 Gene migrated from ENSG00000152223 to ENSG00000152223 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DSP Gene migrated from ENSG00000096696 to ENSG00000096696 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DSG2 Gene migrated from ENSG00000046604 to ENSG00000046604 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DSC2 Gene migrated from ENSG00000134755 to ENSG00000134755 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DNAJC19 Gene migrated from ENSG00000205981 to ENSG00000205981 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DMD Gene migrated from ENSG00000198947 to ENSG00000198947 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DES Gene migrated from ENSG00000175084 to ENSG00000175084 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CSRP3 Gene migrated from ENSG00000129170 to ENSG00000129170 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COX20 Gene migrated from ENSG00000203667 to ENSG00000203667 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COX15 Gene migrated from ENSG00000014919 to ENSG00000014919 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COQ9 Gene migrated from ENSG00000088682 to ENSG00000088682 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COX10 Gene migrated from ENSG00000006695 to ENSG00000006695 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MIPEP Gene migrated from ENSG00000027001 to ENSG00000027001 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COA6 Gene migrated from ENSG00000168275 to ENSG00000168275 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MRPS22 Gene migrated from ENSG00000175110 to ENSG00000175110 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CBL Gene migrated from ENSG00000110395 to ENSG00000110395 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CACNA1C Gene migrated from ENSG00000151067 to ENSG00000151067 (gene set migration)
Cardiomyopathy_Paediatric v1.0 UQCRFS1 Gene migrated from ENSG00000169021 to ENSG00000169021 (gene set migration)
Cardiomyopathy_Paediatric v1.0 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PMM2 Gene migrated from ENSG00000140650 to ENSG00000140650 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ATP5F1D Gene symbol changed from ATP5D to ATP5F1D during gene set migration (ENSG00000099624 -> ENSG00000099624)
Cardiomyopathy_Paediatric v1.0 HSD17B10 Gene migrated from ENSG00000072506 to ENSG00000072506 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MRAS Gene migrated from ENSG00000158186 to ENSG00000158186 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ARSB Gene migrated from ENSG00000113273 to ENSG00000113273 (gene set migration)
Cardiomyopathy_Paediatric v1.0 BAG3 Gene migrated from ENSG00000151929 to ENSG00000151929 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ALPK3 Gene migrated from ENSG00000136383 to ENSG00000136383 (gene set migration)
Cardiomyopathy_Paediatric v1.0 AGL Gene migrated from ENSG00000162688 to ENSG00000162688 (gene set migration)
Cardiomyopathy_Paediatric v1.0 AGK Gene migrated from ENSG00000006530 to ENSG00000006530 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ACTC1 Gene migrated from ENSG00000159251 to ENSG00000159251 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ACTA1 Gene migrated from ENSG00000143632 to ENSG00000143632 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ELAC2 Gene migrated from ENSG00000006744 to ENSG00000006744 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ACAD9 Gene migrated from ENSG00000177646 to ENSG00000177646 (gene set migration)
Cardiomyopathy_Paediatric v1.0 AARS2 Gene migrated from ENSG00000124608 to ENSG00000124608 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TAB2 Gene migrated from ENSG00000055208 to ENSG00000055208 (gene set migration)
Cardiomyopathy_Paediatric v1.0 COQ4 Gene migrated from ENSG00000167113 to ENSG00000167113 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SPEG Gene migrated from ENSG00000072195 to ENSG00000072195 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MRPL44 Gene migrated from ENSG00000135900 to ENSG00000135900 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ALMS1 Gene migrated from ENSG00000116127 to ENSG00000116127 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RBCK1 Gene migrated from ENSG00000125826 to ENSG00000125826 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ATAD3A Gene migrated from ENSG00000197785 to ENSG00000197785 (gene set migration)
Cardiomyopathy_Paediatric v1.0 C1QBP Gene migrated from ENSG00000108561 to ENSG00000108561 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TOR1AIP1 Gene migrated from ENSG00000143337 to ENSG00000143337 (gene set migration)
Cardiomyopathy_Paediatric v1.0 LMOD2 Gene migrated from ENSG00000170807 to ENSG00000170807 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FARS2 Gene migrated from ENSG00000145982 to ENSG00000145982 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PRKAG2 Gene migrated from ENSG00000106617 to ENSG00000106617 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MT-TG Gene migrated from ENSG00000210164 to ENSG00000210164 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DNM1L Gene migrated from ENSG00000087470 to ENSG00000087470 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ACTN2 Gene migrated from ENSG00000077522 to ENSG00000077522 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NEXN Gene migrated from ENSG00000162614 to ENSG00000162614 (gene set migration)
Cardiomyopathy_Paediatric v1.0 LDB3 Gene migrated from ENSG00000122367 to ENSG00000122367 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NRAP Gene migrated from ENSG00000197893 to ENSG00000197893 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PPP1R13L Gene migrated from ENSG00000104881 to ENSG00000104881 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CAP2 Gene migrated from ENSG00000112186 to ENSG00000112186 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TBX20 Gene migrated from ENSG00000164532 to ENSG00000164532 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PRDM16 Gene migrated from ENSG00000142611 to ENSG00000142611 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TBX5 Gene migrated from ENSG00000089225 to ENSG00000089225 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CASZ1 Gene migrated from ENSG00000130940 to ENSG00000130940 (gene set migration)
Cardiomyopathy_Paediatric v1.0 CAMK2D Gene migrated from ENSG00000145349 to ENSG00000145349 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PPCS Gene migrated from ENSG00000127125 to ENSG00000127125 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PKP2 Gene migrated from ENSG00000057294 to ENSG00000057294 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TNNI3 Gene migrated from ENSG00000129991 to ENSG00000129991 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RRAGD Gene migrated from ENSG00000025039 to ENSG00000025039 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FLII Gene migrated from ENSG00000177731 to ENSG00000177731 (gene set migration)
Cardiomyopathy_Paediatric v1.0 GTPBP3 Gene migrated from ENSG00000130299 to ENSG00000130299 (gene set migration)
Cardiomyopathy_Paediatric v1.0 ABCC9 Gene migrated from ENSG00000069431 to ENSG00000069431 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SLC22A5 Gene migrated from ENSG00000197375 to ENSG00000197375 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PPA2 Gene migrated from ENSG00000138777 to ENSG00000138777 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RNF220 Gene migrated from ENSG00000187147 to ENSG00000187147 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MYL2 Gene migrated from ENSG00000111245 to ENSG00000111245 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FHOD3 Gene migrated from ENSG00000134775 to ENSG00000134775 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFB11 Gene migrated from ENSG00000147123 to ENSG00000147123 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PLD1 Gene migrated from ENSG00000075651 to ENSG00000075651 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RPL3L Gene migrated from ENSG00000140986 to ENSG00000140986 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FNIP1 Gene migrated from ENSG00000217128 to ENSG00000217128 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SHMT2 Gene migrated from ENSG00000182199 to ENSG00000182199 (gene set migration)
Cardiomyopathy_Paediatric v1.0 DOLK Gene migrated from ENSG00000175283 to ENSG00000175283 (gene set migration)
Cardiomyopathy_Paediatric v1.0 KRAS Gene migrated from ENSG00000133703 to ENSG00000133703 (gene set migration)
Cardiomyopathy_Paediatric v1.0 BRAF Gene migrated from ENSG00000157764 to ENSG00000157764 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MT-TW Gene migrated from ENSG00000210117 to ENSG00000210117 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MT-TV Gene migrated from ENSG00000210077 to ENSG00000210077 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RRAGC Gene migrated from ENSG00000116954 to ENSG00000116954 (gene set migration)
Cardiomyopathy_Paediatric v1.0 MT-TS2 Gene migrated from ENSG00000210184 to ENSG00000210184 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PGM1 Gene migrated from ENSG00000079739 to ENSG00000079739 (gene set migration)
Cardiomyopathy_Paediatric v1.0 VCL Gene migrated from ENSG00000035403 to ENSG00000035403 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TTR Gene migrated from ENSG00000118271 to ENSG00000118271 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TTN Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TSFM Gene migrated from ENSG00000123297 to ENSG00000123297 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TPM1 Gene migrated from ENSG00000140416 to ENSG00000140416 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TNNT2 Gene migrated from ENSG00000118194 to ENSG00000118194 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TNNI3K Gene migrated from ENSG00000116783 to ENSG00000116783 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TNNC1 Gene migrated from ENSG00000114854 to ENSG00000114854 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TMEM70 Gene migrated from ENSG00000175606 to ENSG00000175606 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TMEM43 Gene migrated from ENSG00000170876 to ENSG00000170876 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TMEM126B Gene migrated from ENSG00000171204 to ENSG00000171204 (gene set migration)
Cardiomyopathy_Paediatric v1.0 TAFAZZIN Gene symbol changed from TAZ to TAFAZZIN during gene set migration (ENSG00000102125 -> ENSG00000102125)
Cardiomyopathy_Paediatric v1.0 SURF1 Gene migrated from ENSG00000148290 to ENSG00000148290 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SOS2 Gene migrated from ENSG00000100485 to ENSG00000100485 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SOS1 Gene migrated from ENSG00000115904 to ENSG00000115904 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SLC25A4 Gene migrated from ENSG00000151729 to ENSG00000151729 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SLC25A20 Gene migrated from ENSG00000178537 to ENSG00000178537 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SHOC2 Gene migrated from ENSG00000108061 to ENSG00000108061 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SGCD Gene migrated from ENSG00000170624 to ENSG00000170624 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SDHAF1 Gene migrated from ENSG00000205138 to ENSG00000205138 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SCO2 Gene migrated from ENSG00000130489 to ENSG00000284194 (gene set migration)
Cardiomyopathy_Paediatric v1.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RYR2 Gene migrated from ENSG00000198626 to ENSG00000198626 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RIT1 Gene migrated from ENSG00000143622 to ENSG00000143622 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RBM20 Gene migrated from ENSG00000203867 to ENSG00000203867 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PTPN11 Gene migrated from ENSG00000179295 to ENSG00000179295 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PPP1CB Gene migrated from ENSG00000213639 to ENSG00000213639 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PNPLA2 Gene migrated from ENSG00000177666 to ENSG00000177666 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PLN Gene migrated from ENSG00000198523 to ENSG00000198523 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PCCB Gene migrated from ENSG00000114054 to ENSG00000114054 (gene set migration)
Cardiomyopathy_Paediatric v1.0 PCCA Gene migrated from ENSG00000175198 to ENSG00000175198 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NUBPL Gene migrated from ENSG00000151413 to ENSG00000151413 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NRAS Gene migrated from ENSG00000213281 to ENSG00000213281 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NKX2-5 Gene migrated from ENSG00000183072 to ENSG00000183072 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NONO Gene migrated from ENSG00000147140 to ENSG00000147140 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFV2 Gene migrated from ENSG00000178127 to ENSG00000178127 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFS8 Gene migrated from ENSG00000110717 to ENSG00000110717 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFV1 Gene migrated from ENSG00000167792 to ENSG00000167792 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFS7 Gene migrated from ENSG00000115286 to ENSG00000115286 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFS4 Gene migrated from ENSG00000164258 to ENSG00000164258 (gene set migration)
Cardiomyopathy_Paediatric v1.0 NDUFS6 Gene migrated from ENSG00000145494 to ENSG00000145494 (gene set migration)
Cardiomyopathy_Paediatric v1.0 RAF1 Gene migrated from ENSG00000132155 to ENSG00000132155 (gene set migration)
Cardiomyopathy_Paediatric v1.0 FLNC Gene migrated from ENSG00000128591 to ENSG00000128591 (gene set migration)
Cardiomyopathy_Paediatric v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.234
Cardiomyopathy_Paediatric v0.234 NRAP Zornitza Stark Phenotypes for gene: NRAP were changed from Dilated cardiomyopathy to Cardiomopathy, dilated, 2N, MIM# 621595
Cardiomyopathy_Paediatric v0.233 NRAP Zornitza Stark edited their review of gene: NRAP: Changed phenotypes: Cardiomopathy, dilated, 2N, MIM# 621595
Cardiomyopathy_Paediatric v0.233 TNNI3 Zornitza Stark Marked gene: TNNI3 as ready
Cardiomyopathy_Paediatric v0.233 TNNI3 Zornitza Stark Gene: tnni3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.233 TNNI3 Zornitza Stark Phenotypes for gene: TNNI3 were changed from Cardiomyopathy, dilated, 2A,; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Hypertrophic cardiomyopathy to Cardiomyopathy, dilated, 1FF, MIM#613286 Cardiomyopathy, hypertrophic, 7, MIM# 613690 Cardiomyopathy, familial restrictive, MIM#1115210
Cardiomyopathy_Paediatric v0.232 TNNI3 Zornitza Stark Publications for gene: TNNI3 were set to
Cardiomyopathy_Paediatric v0.231 TNNI3 Zornitza Stark edited their review of gene: TNNI3: Changed phenotypes: Cardiomyopathy, dilated, 1FF, MIM#613286 Cardiomyopathy, hypertrophic, 7, MIM# 613690 Cardiomyopathy, familial restrictive, MIM#1115210
Cardiomyopathy_Paediatric v0.231 TNNI3 Zornitza Stark reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35838873, 41918167; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.231 ASNA1 Zornitza Stark Tag new gene name tag was added to gene: ASNA1.
Cardiomyopathy_Paediatric v0.231 Zornitza Stark removed gene:NDUFA5 from the panel
Cardiomyopathy_Paediatric v0.230 Zornitza Stark Copied gene NDUFA5 from panel Mitochondrial disease
Cardiomyopathy_Paediatric v0.230 NDUFA5 Zornitza Stark gene: NDUFA5 was added
gene: NDUFA5 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NDUFA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA5 were set to 41916321
Phenotypes for gene: NDUFA5 were set to Complex I deficiency
Penetrance for gene: NDUFA5 were set to Complete
Cardiomyopathy_Paediatric v0.229 MT-TW Zornitza Stark Marked gene: MT-TW as ready
Cardiomyopathy_Paediatric v0.229 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.229 Zornitza Stark Copied gene MT-TW from panel Mitochondrial disease
Cardiomyopathy_Paediatric v0.229 MT-TW Zornitza Stark gene: MT-TW was added
gene: MT-TW was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TW.
Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL
Publications for gene: MT-TW were set to 7695240; 9266739; 9673981; 12776230; 15054399; 18337306; 19809478; 26524491; 23841600; 30937556
Phenotypes for gene: MT-TW were set to Mitochondrial disease (MONDO:0044970), MT-TW-related
Cardiomyopathy_Paediatric v0.228 MT-TV Zornitza Stark Marked gene: MT-TV as ready
Cardiomyopathy_Paediatric v0.228 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.228 Zornitza Stark Copied gene MT-TV from panel Mitochondrial disease
Cardiomyopathy_Paediatric v0.228 MT-TV Zornitza Stark gene: MT-TV was added
gene: MT-TV was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TV.
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Publications for gene: MT-TV were set to 9450773; 12056939; 19252805; 15320572; 18314141; 24691472; 39468830
Phenotypes for gene: MT-TV were set to Mitochondrial disease (MONDO:0044970), MT-TV-related
Cardiomyopathy_Paediatric v0.227 MT-TS2 Zornitza Stark Marked gene: MT-TS2 as ready
Cardiomyopathy_Paediatric v0.227 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.227 Zornitza Stark Copied gene MT-TS2 from panel Mitochondrial disease
Cardiomyopathy_Paediatric v0.227 MT-TS2 Zornitza Stark gene: MT-TS2 was added
gene: MT-TS2 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TS2.
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Publications for gene: MT-TS2 were set to 9792552; 10090882; 16950817; 21257182; 22369973; 22378285
Phenotypes for gene: MT-TS2 were set to Mitochondrial disease (MONDO:0044970), MT-TS2-related
Cardiomyopathy_Paediatric v0.226 Zornitza Stark Copied gene MT-TR from panel Mitochondrial disease
Cardiomyopathy_Paediatric v0.226 MT-TR Zornitza Stark gene: MT-TR was added
gene: MT-TR was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TR.
Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL
Publications for gene: MT-TR were set to 15286228; 17588757; 19809478; 22781096
Phenotypes for gene: MT-TR were set to mitochondrial disease (MONDO:0044970), MT-TR-related
Cardiomyopathy_Paediatric v0.225 ALMS1 chirag patel Phenotypes for gene: ALMS1 were changed from OMIM 203800 to Cardiomyopathy, MONDO:0004994
Cardiomyopathy_Paediatric v0.224 ALMS1 chirag patel Marked gene: ALMS1 as ready
Cardiomyopathy_Paediatric v0.224 ALMS1 chirag patel Gene: alms1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.224 ALMS1 chirag patel reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, MONDO:0004994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.224 WDR59 Zornitza Stark Marked gene: WDR59 as ready
Cardiomyopathy_Paediatric v0.224 WDR59 Zornitza Stark Gene: wdr59 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.224 Zornitza Stark Copied gene WDR59 from panel Mendeliome
Cardiomyopathy_Paediatric v0.224 WDR59 Zornitza Stark gene: WDR59 was added
gene: WDR59 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Amber,Literature
founder tags were added to gene: WDR59.
Mode of inheritance for gene: WDR59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR59 were set to 41715954
Phenotypes for gene: WDR59 were set to Syndromic disease, MONDO:0002254
Cardiomyopathy_Paediatric v0.223 STX4 Zornitza Stark Marked gene: STX4 as ready
Cardiomyopathy_Paediatric v0.223 STX4 Zornitza Stark Gene: stx4 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.223 Zornitza Stark Copied gene STX4 from panel Deafness_IsolatedAndComplex
Cardiomyopathy_Paediatric v0.223 STX4 Zornitza Stark gene: STX4 was added
gene: STX4 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Amber,Literature,Literature
Mode of inheritance for gene: STX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX4 were set to 36355422; 35599850
Phenotypes for gene: STX4 were set to Deafness, autosomal recessive 123, MIM# 620745
Cardiomyopathy_Paediatric v0.222 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Cardiomyopathy_Paediatric v0.222 DSG2 Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.222 DSG2 Zornitza Stark Publications for gene: DSG2 were set to
Cardiomyopathy_Paediatric v0.221 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.220 Zornitza Stark Added reviews for gene DSG2 from panel Arrhythmogenic Cardiomyopathy
Cardiomyopathy_Paediatric v0.219 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Cardiomyopathy_Paediatric v0.219 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.219 FARS2 Zornitza Stark Classified gene: FARS2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.219 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.218 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARS2 were set to 33168986; 38362779; 41588148; 34690748
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency MIM#614946
Review for gene: FARS2 was set to GREEN
Added comment: Cardiomyopathy is part of the phenotype.
Sources: Literature
Cardiomyopathy_Paediatric v0.217 JUP Zornitza Stark Marked gene: JUP as ready
Cardiomyopathy_Paediatric v0.217 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.217 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214
Cardiomyopathy_Paediatric v0.216 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.215 JUP Zornitza Stark reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528, Naxos disease, MIM# 601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.215 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6, MIM# 600858 to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740
Cardiomyopathy_Paediatric v0.214 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to 194200; 37013823; 30681346
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark edited their review of gene: PRKAG2: Changed publications: 37013823, 15877279, 17667862, 32646569; Changed phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858, Glycogen storage disease of heart, lethal congenital, MIM# 261740; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM to Cardiomyopathy, hypertrophic 6, MIM# 600858
Cardiomyopathy_Paediatric v0.212 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to 194200
Cardiomyopathy_Paediatric v0.211 PRKAG2 Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.210 PRKAG2 Zornitza Stark changed review comment from: Can present in adulthood with isolated HCM.; to: Monoallelic variants can present in adulthood with isolated HCM.
Cardiomyopathy_Paediatric v0.210 PRKAG2 Zornitza Stark edited their review of gene: PRKAG2: Added comment: PMID 37013823 reports 3 infants from 2 unrelated families with biallelic truncating PRKAG2 variants presenting with severe neonatal dilated cardiomyopathy, rapid progression to cardiogenic shock and death. Homozygous p.Ile550Asnfs*58 identified in siblings; a 2504 bp exon 11 deletion causing frameshift identified in a third infant. Parents heterozygous and asymptomatic. Zebrafish double knockout model recapitulates reduced ejection fraction, ventricular thickening and atrial fibrillation, supporting loss‑of‑function disease mechanism.; Changed publications: 37013823; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.210 COA5 Zornitza Stark Publications for gene: COA5 were set to 27604308
Cardiomyopathy_Paediatric v0.209 COA5 Zornitza Stark edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense.; Changed publications: 21457908, 36641477
Cardiomyopathy_Paediatric v0.209 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Cardiomyopathy_Paediatric v0.209 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.209 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Cardiomyopathy_Paediatric v0.209 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Cardiomyopathy_Paediatric v0.208 Zornitza Stark Added reviews for gene AGK from panel Mitochondrial disease
Cardiomyopathy_Paediatric v0.207 TMPO chirag patel Tag refuted tag was added to gene: TMPO.
Cardiomyopathy_Paediatric v0.207 TMPO chirag patel reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dilated cardiomyopathy, MONDO:0005021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.207 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Cardiomyopathy_Paediatric v0.207 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.207 DNM1L Zornitza Stark Classified gene: DNM1L as Green List (high evidence)
Cardiomyopathy_Paediatric v0.207 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.206 DNM1L Zornitza Stark gene: DNM1L was added
gene: DNM1L was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: DNM1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388
Review for gene: DNM1L was set to GREEN
Added comment: Cardiomyopathy is a reported feature of this metabolic disorder.
Sources: Literature
Cardiomyopathy_Paediatric v0.205 MRPS36 Krithika Murali Marked gene: MRPS36 as ready
Cardiomyopathy_Paediatric v0.205 MRPS36 Krithika Murali Gene: mrps36 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.205 MRPS36 Krithika Murali Classified gene: MRPS36 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.205 MRPS36 Krithika Murali Gene: mrps36 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.204 MRPS36 Krithika Murali gene: MRPS36 was added
gene: MRPS36 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS36 were set to PMID: 41018056; 38685873
Phenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
Review for gene: MRPS36 was set to AMBER
Added comment: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis.
Cardiomyopathy also reported.

Patient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific.
Sources: Literature
Cardiomyopathy_Paediatric v0.203 RASA2 Zornitza Stark Marked gene: RASA2 as ready
Cardiomyopathy_Paediatric v0.203 RASA2 Zornitza Stark Gene: rasa2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.203 RASA2 Zornitza Stark Phenotypes for gene: RASA2 were changed from Noonan syndrome? to Noonan syndrome MONDO:0018997, RASA2-related
Cardiomyopathy_Paediatric v0.202 RASA2 Zornitza Stark reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome MONDO:0018997, RASA2-related; Mode of inheritance: None
Cardiomyopathy_Paediatric v0.202 ACTN2 chirag patel Source London South GLH was removed from ACTN2.
Source South West GLH was removed from ACTN2.
Source Victorian Clinical Genetics Services was removed from ACTN2.
Phenotypes for gene: ACTN2 were changed from Dilated Cardiomyopathy, Dominant to Dilated Cardiomyopathy, Dominant; ACTN2-related cardiac and skeletal myopathy, MONDO:0700349
Cardiomyopathy_Paediatric v0.201 MYO19 Zornitza Stark Marked gene: MYO19 as ready
Cardiomyopathy_Paediatric v0.201 MYO19 Zornitza Stark Gene: myo19 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.201 MYO19 Zornitza Stark Classified gene: MYO19 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.201 MYO19 Zornitza Stark Gene: myo19 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.200 MYO19 Lucy Spencer changed review comment from: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather.

MYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.

All 4 affected individuals in this family also has variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.

It has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy.
Sources: Literature; to: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather.

MYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.

All 4 affected individuals in this family also had variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.

It has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy.
Sources: Literature
Cardiomyopathy_Paediatric v0.200 MYO19 Lucy Spencer gene: MYO19 was added
gene: MYO19 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MYO19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO19 were set to 40634996
Phenotypes for gene: MYO19 were set to Hypertrophic cardiomyopathy MONDO:0005045, MYO19-related
Review for gene: MYO19 was set to RED
Added comment: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather.

MYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.

All 4 affected individuals in this family also has variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.

It has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy.
Sources: Literature
Cardiomyopathy_Paediatric v0.200 NEXN Zornitza Stark Marked gene: NEXN as ready
Cardiomyopathy_Paediatric v0.200 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.200 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from Cardiomyopathy, familial hypertrophic, 20,; Cardiomyopathy, dilated, 1CC to Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261; Cardiomyopathy, familial hypertrophic, 20,; Cardiomyopathy, dilated, 1CC
Cardiomyopathy_Paediatric v0.199 NEXN Zornitza Stark Mode of inheritance for gene: NEXN 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 v0.198 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493 to Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493; Cardiomyopathy, dilated, 2L, MIM# 621237
Cardiomyopathy_Paediatric v0.197 LDB3 Zornitza Stark edited their review of gene: LDB3: Added comment: 5 families with bi-allelic variants and severe, perinatal onset DCM.; Changed publications: 36253531; Changed phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493, Cardiomyopathy, dilated, 2L, MIM# 621237
Cardiomyopathy_Paediatric v0.197 SLC30A5 Zornitza Stark Phenotypes for gene: SLC30A5 were changed from Perinatal lethal cardiomyopathy to Cardiomyopathy MONDO:0004994, SLC30A5-related; Perinatal lethal cardiomyopathy
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