HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1708",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1706",
"results": [
{
"created": "2020-07-28T20:05:28.434788+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP2K1 were set to 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583\nPhenotypes for gene: MAP2K1 were set to ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 3; syndromic HCM; CFC syndrome; LEOPARD syndrome\nMode 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",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:28.386503+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LZTR1 was added\ngene: LZTR1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,Expert Review Green\nMode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LZTR1 were set to 25795793; 29469822\nPhenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:28.345539+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRPPRC was added\ngene: LRPPRC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRPPRC were set to 12529507; 24399447; 22045337; 26510951\nPhenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:28.299258+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LMNA were set to 15148145; 18551513; 15622532\nPhenotypes 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",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:28.254935+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMP2 was added\ngene: LAMP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode 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)\nPublications for gene: LAMP2 were set to 27604308\nPhenotypes for gene: LAMP2 were set to Danon disease; syndromic HCM",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:28.209216+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRAS were set to PMID: 21396583\nPhenotypes 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\nMode 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",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:28.160897+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JUP was added\ngene: JUP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:28.106661+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JPH2 was added\ngene: JPH2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:28.068387+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDUA was added\ngene: IDUA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDUA were set to 27604308\nPhenotypes 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",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:28.014591+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDS was added\ngene: IDS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IDS were set to 27604308\nPhenotypes for gene: IDS were set to MPS II, Hunter disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 2; Mucopolysaccharidosis Type II; Mucopolysaccharidosis II, 309900",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.969957+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDH2 was added\ngene: IDH2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IDH2 were set to 24049096; 20847235\nPhenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2, 613657; Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.928371+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HRAS were set to 16170316; 16969868; 16443854; 21396583\nPhenotypes for gene: HRAS were set to Costello syndrome; syndromic HCM\nMode 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",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.879879+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCN4 was added\ngene: HCN4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.843013+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HADHB were set to 27604308\nPhenotypes 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)",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.799213+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HADHA were set to 27604308\nPhenotypes 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)",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.748710+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUSB was added\ngene: GUSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GUSB were set to 27604308\nPhenotypes 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)",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.688726+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLB1 was added\ngene: GLB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLB1 were set to 27604308\nPhenotypes 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",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.640615+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAA was added\ngene: GAA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes 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)",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.593802+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNC was added\ngene: FLNC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.557619+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FKTN was added\ngene: FKTN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKTN were set to 27604308\nPhenotypes 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)",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.517386+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FHOD3 was added\ngene: FHOD3 was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.480407+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FHL1 was added\ngene: FHL1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.438463+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAH was added\ngene: FAH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAH were set to 27604308\nPhenotypes for gene: FAH were set to HCM; Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.393145+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPG5 was added\ngene: EPG5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPG5 were set to 23838600; 23674064; 26395118; 26917586; 23222957; 25331754; 28624465\nPhenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.353667+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMD was added\ngene: EMD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode 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)\nPhenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.313285+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSP was added\ngene: DSP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair and keratoderma",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.273059+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSG2 was added\ngene: DSG2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10; Cardiomyopathy, dilated, 1BB,",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.234253+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSC2 was added\ngene: DSC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.191999+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOLK was added\ngene: DOLK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOLK were set to 17273964; 22242004; 23890587\nPhenotypes 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)",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.150300+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC19 was added\ngene: DNAJC19 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC19 were set to 16055927; 22797137; 27928778; 27604308; 27426421\nPhenotypes 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",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.106854+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMD was added\ngene: DMD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode 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)\nPhenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200; Cardiomyopathy, dilated, 3B; Dilated Cardiomyopathy, X-Linked; Becker muscular dystrophy, 300376",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.066131+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DES was added\ngene: DES was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I,",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:27.026647+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSRP3 was added\ngene: CSRP3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CSRP3 were set to Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.981585+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CPT2 were set to 24816252; 27604308\nPhenotypes 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)",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.940867+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX6B1 was added\ngene: COX6B1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX6B1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.902335+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX20 was added\ngene: COX20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX20",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.862222+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX15 was added\ngene: COX15 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes 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",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.822554+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX14 was added\ngene: COX14 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.778133+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX10 was added\ngene: COX10 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.736457+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COA6 was added\ngene: COA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COA6 were set to 25339201; 22277967; 25959673; 24549041\nPhenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.696415+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COA5 was added\ngene: COA5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COA5 were set to 27604308\nPhenotypes 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",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.654832+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH2 was added\ngene: CDH2 was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.614544+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBL was added\ngene: CBL was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CBL were set to 19571318; 20543203; 20619386\nPhenotypes 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\nMode 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",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.569229+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1C was added\ngene: CACNA1C was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.530354+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRAF were set to 19206169; 21396583\nPhenotypes 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\nMode 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",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.481300+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BAG3 was added\ngene: BAG3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.423575+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATPAF2 was added\ngene: ATPAF2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273",
"entity_name": "ATPAF2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.368594+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP5D was added\ngene: ATP5D was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP5D were set to 29478781\nPhenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120",
"entity_name": "ATP5D",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.332455+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSB was added\ngene: ARSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSB were set to 27604308\nPhenotypes 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",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.296554+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALPK3 was added\ngene: ALPK3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, 618052",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.262873+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review,Expert Review Green\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALMS1 were set to 15689433\nPhenotypes for gene: ALMS1 were set to OMIM 203800",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.226508+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGL was added\ngene: AGL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications 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\nPhenotypes 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",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.190496+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGK was added\ngene: AGK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGK were set to Sengers syndrome, 212350",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.153338+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTN2 was added\ngene: ACTN2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTN2 were set to Dilated Cardiomyopathy, Dominant",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.114145+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTC1 was added\ngene: ACTC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4; Left Ventricular Noncompaction Cardiomyopathy; Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.075918+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTA1 was added\ngene: ACTA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green\nMode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537\nPhenotypes 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",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:26.037329+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADVL was added\ngene: ACADVL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications 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\nPhenotypes 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",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:25.992312+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAD9 was added\ngene: ACAD9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:25.941835+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC9 was added\ngene: ABCC9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green\nMode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABCC9 were set to 15034580\nPhenotypes for gene: ABCC9 were set to Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:25.901818+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AARS2 was added\ngene: AARS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AARS2 were set to 25058219; 21549344\nPhenotypes 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)",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-07-28T20:05:25.875561+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Cardiomyopathy_Paediatric",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-28T19:59:11.827838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLCN as ready",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2020-07-28T19:59:11.819878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flcn has been classified as Green List (High Evidence).",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2020-07-28T19:59:01.089719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLCN were changed from to Birt-Hogg-Dube syndrome (MIM#135150); Pneumothorax, primary spontaneous (MIM#173600)",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2020-07-28T19:58:41.840390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLCN were set to ",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2020-07-28T19:58:21.777505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2020-07-28T17:35:12.661825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3541",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17124507, 30586397, 31625278; Phenotypes: Birt-Hogg-Dube syndrome (MIM#135150), Pneumothorax, primary spontaneous (MIM#173600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:54:49.409675+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-28T12:35:33.859617+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRPS1 was added\ngene: TRPS1 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPS1 were set to 31332722\nPhenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type III, 190351; Trichorhinophalangeal syndrome, type I, 190350",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.824213+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TP63 was added\ngene: TP63 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TP63 were set to 31332722\nPhenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.781927+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJB6 was added\ngene: GJB6 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GJB6 were set to 31332722\nPhenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500",
"entity_name": "GJB6",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.735826+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WNT10A was added\ngene: WNT10A was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: WNT10A were set to 31332722\nPhenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.695837+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EDARADD was added\ngene: EDARADD was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EDARADD were set to 31332722\nPhenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic; Ectodermal dysplasia, anhidrotic",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.655538+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EDAR was added\ngene: EDAR was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EDAR were set to 31332722\nPhenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.619386+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EDA was added\ngene: EDA was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EDA were set to 31332722\nPhenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.582209+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TCHH was added\ngene: TCHH was added to Hair disorders. Sources: Expert Review Red,Literature\nMode of inheritance for gene: TCHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCHH were set to 31332722\nPhenotypes for gene: TCHH were set to ?Uncombable hair syndrome 3, 617252",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.544358+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGM3 was added\ngene: TGM3 was added to Hair disorders. Sources: Expert Review Red,Literature\nMode of inheritance for gene: TGM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TGM3 were set to 31332722\nPhenotypes for gene: TGM3 were set to ?Uncombable hair syndrome 2, 617251",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.509575+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PADI3 was added\ngene: PADI3 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: PADI3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PADI3 were set to 31332722\nPhenotypes for gene: PADI3 were set to Uncombable hair syndrome, 191480",
"entity_name": "PADI3",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.475595+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: JUP was added\ngene: JUP was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JUP were set to 31332722\nPhenotypes for gene: JUP were set to Naxos disease, 601214",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.423805+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DSP was added\ngene: DSP was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DSP were set to 31332722\nPhenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome, 607655; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.389435+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT71 was added\ngene: KRT71 was added to Hair disorders. Sources: Expert Review Red,Literature\nMode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT71 were set to 31332722\nPhenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.354712+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TARS was added\ngene: TARS was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TARS were set to 31332722\nPhenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive, 618546",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.319188+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GTF2E2 was added\ngene: GTF2E2 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2E2 were set to 31332722\nPhenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, 616943",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.284913+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC3 was added\ngene: ERCC3 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC3 were set to 31332722\nPhenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive, 616390",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.243664+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNF113A was added\ngene: RNF113A was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: RNF113A 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: RNF113A were set to 31332722\nPhenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, 300953",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.185148+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GTF2H5 was added\ngene: GTF2H5 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H5 were set to 31332722\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.151546+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPLKIP was added\ngene: MPLKIP was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPLKIP were set to 31332722\nPhenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.117506+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC2 were set to 31332722\nPhenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive, 601675",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.084891+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP7A were set to 31332722\nPhenotypes for gene: ATP7A were set to Menkes disease, 309400",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.052243+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCS1L were set to 31332722\nPhenotypes for gene: BCS1L were set to Bjornstad syndrome, 262000",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:33.018826+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT83 was added\ngene: KRT83 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: KRT83 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT83 were set to 31332722\nPhenotypes for gene: KRT83 were set to Monilethrix, 158000",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:32.984181+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT86 was added\ngene: KRT86 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT86 were set to 31332722\nPhenotypes for gene: KRT86 were set to Monilethrix, 158000",
"entity_name": "KRT86",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:32.950586+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT81 was added\ngene: KRT81 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: KRT81 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT81 were set to 31332722\nPhenotypes for gene: KRT81 were set to Monilethrix, 158000",
"entity_name": "KRT81",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:32.911887+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPINK5 was added\ngene: SPINK5 was added to Hair disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPINK5 were set to 31332722\nPhenotypes for gene: SPINK5 were set to Netherton syndrome, 256500",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:32.879053+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASL were set to 31332722\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:32.842957+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CDH3 was added\ngene: CDH3 was added to Hair disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDH3 were set to 31332722\nPhenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, 601553",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:32.809973+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LPAR6 was added\ngene: LPAR6 was added to Hair disorders. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPAR6 were set to Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150; Hypotrichosis 8, 278150",
"entity_name": "LPAR6",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:32.761920+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LIPH was added\ngene: LIPH was added to Hair disorders. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIPH were set to 31332722\nPhenotypes for gene: LIPH were set to Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379; Hypotrichosis 7, 604379",
"entity_name": "LIPH",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:32.726430+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT74 was added\ngene: KRT74 was added to Hair disorders. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT74 were set to Hypotrichosis 3, 613981",
"entity_name": "KRT74",
"entity_type": "gene"
},
{
"created": "2020-07-28T12:35:32.690779+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HR was added\ngene: HR was added to Hair disorders. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HR were set to 31332722\nPhenotypes for gene: HR were set to Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550",
"entity_name": "HR",
"entity_type": "gene"
}
]
}