{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1707","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1705","results":[{"created":"2020-07-28T20:05:33.294228+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RASA2 was added\ngene: RASA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Amber\nMode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RASA2 were set to PMID: 25049390\nPhenotypes for gene: RASA2 were set to Noonan syndrome?","entity_name":"RASA2","entity_type":"gene"},{"created":"2020-07-28T20:05:33.244720+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PET100 was added\ngene: PET100 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110","entity_name":"PET100","entity_type":"gene"},{"created":"2020-07-28T20:05:33.195374+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFB8 was added\ngene: NDUFB8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFB8 were set to 29429571; 27290639\nPhenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252","entity_name":"NDUFB8","entity_type":"gene"},{"created":"2020-07-28T20:05:33.145939+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFA4 was added\ngene: NDUFA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA4 were set to 23746447, 29636225\nPhenotypes for gene: NDUFA4 were set to No OMIM phenotype","entity_name":"NDUFA4","entity_type":"gene"},{"created":"2020-07-28T20:05:33.096949+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGLU was added\ngene: NAGLU was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAGLU were set to 27604308\nPhenotypes 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","entity_name":"NAGLU","entity_type":"gene"},{"created":"2020-07-28T20:05:33.048462+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAA15 was added\ngene: NAA15 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber\nMode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"NAA15","entity_type":"gene"},{"created":"2020-07-28T20:05:33.002231+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-TI was added\ngene: MT-TI was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber\nMode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL","entity_name":"MT-TI","entity_type":"gene"},{"created":"2020-07-28T20:05:32.954115+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMACHC was added\ngene: MMACHC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber,MetBioNet\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to 27604308\nPhenotypes 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","entity_name":"MMACHC","entity_type":"gene"},{"created":"2020-07-28T20:05:32.902925+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LDB3 was added\ngene: LDB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber\nMode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LDB3 were set to Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C","entity_name":"LDB3","entity_type":"gene"},{"created":"2020-07-28T20:05:32.854183+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HGSNAT was added\ngene: HGSNAT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HGSNAT were set to 27604308; 21048366\nPhenotypes 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","entity_name":"HGSNAT","entity_type":"gene"},{"created":"2020-07-28T20:05:32.804515+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HFE was added\ngene: HFE was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HFE were set to 27604308\nPhenotypes 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","entity_name":"HFE","entity_type":"gene"},{"created":"2020-07-28T20:05:32.754617+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Amber,NHS GMS,South West GLH\nMode 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)\nPublications for gene: GLA were set to 27604308\nPhenotypes 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","entity_name":"GLA","entity_type":"gene"},{"created":"2020-07-28T20:05:32.697740+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA6 was added\ngene: GATA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"GATA6","entity_type":"gene"},{"created":"2020-07-28T20:05:32.646764+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXRED1 was added\ngene: FOXRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2020-07-28T20:05:32.598196+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FKRP was added\ngene: FKRP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-07-28T20:05:32.552098+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FASTKD2 was added\ngene: FASTKD2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FASTKD2 were set to 28499982\nPhenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2020-07-28T20:05:32.504538+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EYA4 was added\ngene: EYA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Amber\nMode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EYA4 were set to Cardiomyopathy, dilated, 1J","entity_name":"EYA4","entity_type":"gene"},{"created":"2020-07-28T20:05:32.451518+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRYAB was added\ngene: CRYAB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber\nMode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CRYAB were set to Cardiomyopathy, dilated, 1II,; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha   B crystallin   related, 613869","entity_name":"CRYAB","entity_type":"gene"},{"created":"2020-07-28T20:05:32.403741+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COX7B was added\ngene: COX7B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet\nMode 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)\nPhenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887","entity_name":"COX7B","entity_type":"gene"},{"created":"2020-07-28T20:05:32.355287+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANK2 was added\ngene: ANK2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ANK2","entity_type":"gene"},{"created":"2020-07-28T20:05:32.307458+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VCL was added\ngene: VCL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W","entity_name":"VCL","entity_type":"gene"},{"created":"2020-07-28T20:05:32.258843+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTR was added\ngene: TTR was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTR were set to 31118583; 31131842; 31111153; 30878017; 30120737\nPhenotypes for gene: TTR were set to syndromic HCM","entity_name":"TTR","entity_type":"gene"},{"created":"2020-07-28T20:05:32.210237+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTN was added\ngene: TTN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739\nPhenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G","entity_name":"TTN","entity_type":"gene"},{"created":"2020-07-28T20:05:32.163924+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TSFM was added\ngene: TSFM was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSFM were set to 27604308\nPhenotypes 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","entity_name":"TSFM","entity_type":"gene"},{"created":"2020-07-28T20:05:32.115416+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TPM1 was added\ngene: TPM1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TPM1 were set to Left ventricular noncompaction 9,; Cardiomyopathy, dilated, 1Y; Cardiomyopathy, familial hypertrophic, 3","entity_name":"TPM1","entity_type":"gene"},{"created":"2020-07-28T20:05:32.066375+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNNT2 was added\ngene: TNNT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6,","entity_name":"TNNT2","entity_type":"gene"},{"created":"2020-07-28T20:05:32.015025+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNNI3K was added\ngene: TNNI3K was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-07-28T20:05:31.970886+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNNI3 was added\ngene: TNNI3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 2A,; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Hypertrophic cardiomyopathy","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-07-28T20:05:31.922041+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNNC1 was added\ngene: TNNC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNC1 were set to Cardiomyopathy, familial hypertrophic, 13,; Cardiomyopathy, dilated, 1Z","entity_name":"TNNC1","entity_type":"gene"},{"created":"2020-07-28T20:05:31.873601+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM70 was added\ngene: TMEM70 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-07-28T20:05:31.826646+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM43 was added\ngene: TMEM43 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302","entity_name":"TMEM43","entity_type":"gene"},{"created":"2020-07-28T20:05:31.777046+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM126B was added\ngene: TMEM126B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM126B were set to 27374773; 27374774\nPhenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250","entity_name":"TMEM126B","entity_type":"gene"},{"created":"2020-07-28T20:05:31.727540+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAZ was added\ngene: TAZ was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TAZ were set to 27604308\nPhenotypes 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","entity_name":"TAZ","entity_type":"gene"},{"created":"2020-07-28T20:05:31.666042+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SURF1 was added\ngene: SURF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000","entity_name":"SURF1","entity_type":"gene"},{"created":"2020-07-28T20:05:31.620548+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOS2 was added\ngene: SOS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green\nMode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOS2 were set to 26173643; 25795793\nPhenotypes for gene: SOS2 were set to Noonan syndrome 9 616559; Noonan syndrome 9\nMode of pathogenicity for gene: SOS2 was set to Other - please provide details in the comments","entity_name":"SOS2","entity_type":"gene"},{"created":"2020-07-28T20:05:31.570836+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOS1 was added\ngene: SOS1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837\nPhenotypes for gene: SOS1 were set to Noonan syndrome; Noonan syndrome 4; Noonan syndrome 4 610733; syndromic HCM\nMode 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","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-07-28T20:05:31.517995+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A4 was added\ngene: SLC25A4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC25A4 were set to 27604308\nPhenotypes 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","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2020-07-28T20:05:31.469511+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A20 was added\ngene: SLC25A20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A20 were set to 27604308\nPhenotypes 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","entity_name":"SLC25A20","entity_type":"gene"},{"created":"2020-07-28T20:05:31.417837+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC22A5 was added\ngene: SLC22A5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: SLC22A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC22A5 were set to 24816252; 27604308\nPhenotypes 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","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2020-07-28T20:05:31.367351+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHOC2 was added\ngene: SHOC2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHOC2 were set to 23918763; 19684605; 22528146\nPhenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair; syndromic HCM\nMode 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","entity_name":"SHOC2","entity_type":"gene"},{"created":"2020-07-28T20:05:31.313132+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCD was added\ngene: SGCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGCD were set to 10735275; 18779423; 23900355\nPhenotypes for gene: SGCD were set to Cardiomyopathy, dilated, 1L, 606685","entity_name":"SGCD","entity_type":"gene"},{"created":"2020-07-28T20:05:31.267389+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHD was added\ngene: SDHD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SDHD were set to 26008905; 24367056\nPhenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011","entity_name":"SDHD","entity_type":"gene"},{"created":"2020-07-28T20:05:31.221650+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHAF1 was added\ngene: SDHAF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SDHAF1 were set to 19465911; 26642834; 22995659\nPhenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011","entity_name":"SDHAF1","entity_type":"gene"},{"created":"2020-07-28T20:05:31.177259+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHA was added\ngene: SDHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SDHA were set to 27604308\nPhenotypes 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","entity_name":"SDHA","entity_type":"gene"},{"created":"2020-07-28T20:05:31.132464+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCO2 was added\ngene: SCO2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCO2 were set to 27604308\nPhenotypes 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","entity_name":"SCO2","entity_type":"gene"},{"created":"2020-07-28T20:05:31.088101+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCO1 was added\ngene: SCO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110","entity_name":"SCO1","entity_type":"gene"},{"created":"2020-07-28T20:05:31.043460+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN5A was added\ngene: SCN5A was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCN5A were set to doi:10. 1007/ s12265-016-9673-5; 24317018\nPhenotypes for gene: SCN5A were set to Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Cardiomyopathy, dilated, 1E; Long QT syndrome","entity_name":"SCN5A","entity_type":"gene"},{"created":"2020-07-28T20:05:30.989623+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RYR2 was added\ngene: RYR2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/\nPhenotypes 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","entity_name":"RYR2","entity_type":"gene"},{"created":"2020-07-28T20:05:30.942847+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RIT1 was added\ngene: RIT1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RIT1 were set to 23791108; 24939608; 25124994\nPhenotypes for gene: RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8; Noonan syndrome 8 615355\nMode 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","entity_name":"RIT1","entity_type":"gene"},{"created":"2020-07-28T20:05:30.890055+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBM20 was added\ngene: RBM20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD","entity_name":"RBM20","entity_type":"gene"},{"created":"2020-07-28T20:05:30.840606+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAF1 was added\ngene: RAF1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAF1 were set to 17603482; 17603483\nPhenotypes 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\nMode 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","entity_name":"RAF1","entity_type":"gene"},{"created":"2020-07-28T20:05:30.784909+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPN11 was added\ngene: PTPN11 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN11 were set to 16263833; 12634870; 18678287; 15384080; 15240615; 11704759; 17603483; 17497712; 12529711\nPhenotypes 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\nMode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-07-28T20:05:30.730681+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKAG2 was added\ngene: PRKAG2 was added to Cardiomyopathy_Paediatric. Sources: London South GLHSouth West GLH,NHS GMS,Expert Review Green\nMode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKAG2 were set to 194200\nPhenotypes for gene: PRKAG2 were set to Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2020-07-28T20:05:30.681504+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPP1R13L was added\ngene: PPP1R13L was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R13L were set to 25691752; 19016676; 28069640; 15661756; 28864777\nPhenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2020-07-28T20:05:30.637301+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPP1CB was added\ngene: PPP1CB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green\nMode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP1CB were set to 27264673; 28211982; 27681385\nPhenotypes 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","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2020-07-28T20:05:30.582724+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPCS was added\ngene: PPCS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C,  618189","entity_name":"PPCS","entity_type":"gene"},{"created":"2020-07-28T20:05:30.541170+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPA2 was added\ngene: PPA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green\nMode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPA2 were set to 27523598\nPhenotypes for gene: PPA2 were set to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222","entity_name":"PPA2","entity_type":"gene"},{"created":"2020-07-28T20:05:30.497495+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNPLA2 was added\ngene: PNPLA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes 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","entity_name":"PNPLA2","entity_type":"gene"},{"created":"2020-07-28T20:05:30.449910+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLN was added\ngene: PLN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic, 18,; Cardiomyopathy, dilated, 1P","entity_name":"PLN","entity_type":"gene"},{"created":"2020-07-28T20:05:30.403314+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PKP2 was added\ngene: PKP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy","entity_name":"PKP2","entity_type":"gene"},{"created":"2020-07-28T20:05:30.352787+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDLIM3 was added\ngene: PDLIM3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PDLIM3 were set to 25163546","entity_name":"PDLIM3","entity_type":"gene"},{"created":"2020-07-28T20:05:30.283676+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCCB was added\ngene: PCCB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCCB were set to 27604308\nPhenotypes 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","entity_name":"PCCB","entity_type":"gene"},{"created":"2020-07-28T20:05:30.236265+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCCA was added\ngene: PCCA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCCA were set to 27604308\nPhenotypes 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","entity_name":"PCCA","entity_type":"gene"},{"created":"2020-07-28T20:05:30.190097+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NUBPL was added\ngene: NUBPL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242","entity_name":"NUBPL","entity_type":"gene"},{"created":"2020-07-28T20:05:30.135844+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NRAS was added\ngene: NRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NRAS were set to 19775298; 19966803\nPhenotypes for gene: NRAS were set to Noonan syndrome 6 613224; CFC Syndrome; Cardio-Facio-cutanenous syndrome; syndromic HCM; Noonan syndrome 6; Noonan syndrome\nMode 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","entity_name":"NRAS","entity_type":"gene"},{"created":"2020-07-28T20:05:30.084132+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NONO was added\ngene: NONO was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green\nMode 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)","entity_name":"NONO","entity_type":"gene"},{"created":"2020-07-28T20:05:30.042286+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NKX2-5 was added\ngene: NKX2-5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green\nMode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NKX2-5 were set to Atrialseptaldefect7,withorwithoutAVconductiondefects,108900","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2020-07-28T20:05:29.982702+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NF1 was added\ngene: NF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NF1 were set to 16380919; 19845691; 12707950\nPhenotypes 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","entity_name":"NF1","entity_type":"gene"},{"created":"2020-07-28T20:05:29.933064+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEXN was added\ngene: NEXN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic, 20,; Cardiomyopathy, dilated, 1CC","entity_name":"NEXN","entity_type":"gene"},{"created":"2020-07-28T20:05:29.866684+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFV2 was added\ngene: NDUFV2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2020-07-28T20:05:29.808824+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFV1 was added\ngene: NDUFV1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, 618225","entity_name":"NDUFV1","entity_type":"gene"},{"created":"2020-07-28T20:05:29.755233+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS8 was added\ngene: NDUFS8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS8 were set to Mitochondrial complex I deficiency, nuclear type 2, 618222","entity_name":"NDUFS8","entity_type":"gene"},{"created":"2020-07-28T20:05:29.696214+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS7 was added\ngene: NDUFS7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2020-07-28T20:05:29.649331+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS6 was added\ngene: NDUFS6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, nuclear type 9, 618232","entity_name":"NDUFS6","entity_type":"gene"},{"created":"2020-07-28T20:05:29.606446+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS4 was added\ngene: NDUFS4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency, nuclear type 1, 252010","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2020-07-28T20:05:29.564287+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS3 was added\ngene: NDUFS3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8, 618230","entity_name":"NDUFS3","entity_type":"gene"},{"created":"2020-07-28T20:05:29.522334+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS2 was added\ngene: NDUFS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6, 618228","entity_name":"NDUFS2","entity_type":"gene"},{"created":"2020-07-28T20:05:29.480338+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS1 was added\ngene: NDUFS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226","entity_name":"NDUFS1","entity_type":"gene"},{"created":"2020-07-28T20:05:29.433311+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFB3 was added\ngene: NDUFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2020-07-28T20:05:29.391717+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFB11 was added\ngene: NDUFB11 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode 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)\nPhenotypes for gene: NDUFB11 were set to Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2020-07-28T20:05:29.349925+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFAF5 was added\ngene: NDUFAF5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238","entity_name":"NDUFAF5","entity_type":"gene"},{"created":"2020-07-28T20:05:29.306926+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFAF4 was added\ngene: NDUFAF4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237","entity_name":"NDUFAF4","entity_type":"gene"},{"created":"2020-07-28T20:05:29.265028+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFAF3 was added\ngene: NDUFAF3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240","entity_name":"NDUFAF3","entity_type":"gene"},{"created":"2020-07-28T20:05:29.221871+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFAF2 was added\ngene: NDUFAF2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2020-07-28T20:05:29.177934+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFAF1 was added\ngene: NDUFAF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234","entity_name":"NDUFAF1","entity_type":"gene"},{"created":"2020-07-28T20:05:29.134475+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFA2 was added\ngene: NDUFA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235","entity_name":"NDUFA2","entity_type":"gene"},{"created":"2020-07-28T20:05:29.088296+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFA11 was added\ngene: NDUFA11 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2020-07-28T20:05:29.043163+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFA10 was added\ngene: NDUFA10 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2020-07-28T20:05:28.995684+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFA1 was added\ngene: NDUFA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode 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)\nPhenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020","entity_name":"NDUFA1","entity_type":"gene"},{"created":"2020-07-28T20:05:28.951885+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYPN was added\ngene: MYPN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MYPN were set to Cardiomyopathy, dilated, 1KK; Cardiomypathy, familial hypertrophic, 22,","entity_name":"MYPN","entity_type":"gene"},{"created":"2020-07-28T20:05:28.910682+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYL3 was added\ngene: MYL3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: MYL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8,","entity_name":"MYL3","entity_type":"gene"},{"created":"2020-07-28T20:05:28.866700+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYL2 was added\ngene: MYL2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10","entity_name":"MYL2","entity_type":"gene"},{"created":"2020-07-28T20:05:28.810152+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH7 was added\ngene: MYH7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MYH7 were set to Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,; Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-07-28T20:05:28.766784+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH6 was added\ngene: MYH6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH6 were set to Cardiomyopathy, familial hypertrophic, 14; Cardiomyopathy, dilated, 1EE","entity_name":"MYH6","entity_type":"gene"},{"created":"2020-07-28T20:05:28.721619+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYBPC3 was added\ngene: MYBPC3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic, 4,; Left ventricular noncompaction 10,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy","entity_name":"MYBPC3","entity_type":"gene"},{"created":"2020-07-28T20:05:28.662968+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUT was added\ngene: MUT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MUT were set to 27604308\nPhenotypes 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.","entity_name":"MUT","entity_type":"gene"},{"created":"2020-07-28T20:05:28.617291+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRPL44 was added\ngene: MRPL44 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green\nMode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)","entity_name":"MRPL44","entity_type":"gene"},{"created":"2020-07-28T20:05:28.578028+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLYCD was added\ngene: MLYCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MLYCD were set to 27604308; 12955715; 7609455; 9177981\nPhenotypes 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","entity_name":"MLYCD","entity_type":"gene"},{"created":"2020-07-28T20:05:28.536745+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIB1 was added\ngene: MIB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MIB1 were set to Left ventricular noncompaction 7","entity_name":"MIB1","entity_type":"gene"},{"created":"2020-07-28T20:05:28.487653+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP2K2 was added\ngene: MAP2K2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP2K2 were set to 23379592; 21396583\nPhenotypes 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\nMode 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","entity_name":"MAP2K2","entity_type":"gene"}]}