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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=736",
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{
"created": "2022-10-05T14:21:30.046412+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFA.",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-05T14:20:50.280059+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFA.",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-05T14:20:31.764853+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFA.",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-05T14:16:04.387407+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nGlutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.\r\n\r\nThe heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.\r\n\r\nTreatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate\r\n\r\nNon-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis; to: Well established gene-disease association.\r\n\r\nGlutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.\r\n\r\nThe heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.\r\n\r\nTreatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate (PMID 31904027)\r\n\r\nNon-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-05T14:15:49.759026+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ETFA: Changed publications: 31904027",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-05T14:15:28.257204+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-05T13:00:04.447514+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:56:08.509202+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:54:16.022160+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenocortical insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:50:39.696621+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: NR3C2 associated pseudohypoaldosteronism, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR3C2",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:46:17.861177+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital adrenal hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:43:48.492882+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:41:25.826045+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:38:57.137820+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:09:40.425438+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, Nephronophthisis 1, juvenile, Senior-Loken syndrome-1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:06:56.629624+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-pick disease, type C2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:03:48.108059+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-Pick disease, type C, NPC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-05T12:00:07.132613+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-10-05T11:55:54.435697+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hajdu-Cheney syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-10-05T11:52:48.989217+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2, Multiple synostoses syndrome 1, Stapes ankylosis with broad thumbs and toes, Symphalangism, proximal, 1A, Tarsal-carpal coalition syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2022-10-05T11:49:44.497693+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26548497; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2022-10-05T11:47:18.177152+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, NKX2-1-Related Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2022-10-05T11:32:03.239089+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NIPBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2022-10-05T11:17:49.931811+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31532840; Phenotypes: Ichthyosis, congenital, autosomal recessive 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2022-10-05T11:11:31.237029+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2022-10-05T11:08:18.264423+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2022-10-05T11:04:05.518890+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NGLY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 1 (NGLY1-Related Congenital Disorder of Deglycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2022-10-05T10:19:58.605715+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis type 2 (NF2); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2022-10-05T10:14:42.753179+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31010905; Phenotypes: Neurofibromatosis type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2022-10-05T09:04:01.137359+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36149814; Phenotypes: NEUROG3 associated syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:58:14.278476+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NEU1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:53:21.342944+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:51:39.160405+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:47:58.335114+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NEFL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, Charcot-Marie-Tooth disease, type 1F, Charcot-Marie-Tooth disease, type 2E; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEFL",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:43:23.578692+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive, Arthrogryposis multiplex congenita 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:40:12.894248+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:27:17.510059+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF2 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:24:04.025626+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF1 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:20:52.153129+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:15:04.348801+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:11:12.661499+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2022-10-05T08:08:09.109463+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2022-10-04T21:39:17.735816+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-10-04T21:36:23.581130+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2022-10-04T21:33:35.266669+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 22, Deafness, autosomal recessive 37; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MYO6",
"entity_type": "gene"
},
{
"created": "2022-10-04T21:28:25.710338+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYO3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 30; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO3A",
"entity_type": "gene"
},
{
"created": "2022-10-04T21:17:56.173323+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO15A",
"entity_type": "gene"
},
{
"created": "2022-10-04T21:15:05.319011+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2022-10-04T18:37:18.368045+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various myopathies and cardiomyopathies; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2022-10-04T18:34:38.915901+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) (AD), Arthrogryposis, distal, type 2B3 (Sheldon-Hall) (AD), Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (AR); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2022-10-04T18:32:07.903875+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2022-10-04T18:27:49.573153+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYH14: Rating: ; Mode of pathogenicity: None; Publications: PMID: 34681017; Phenotypes: Deafness, autosomal dominant 4A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH14",
"entity_type": "gene"
},
{
"created": "2022-10-04T18:20:20.298446+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2022-10-04T18:17:57.963173+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYBPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lethal congenital contracture syndrome 4 (AR), Arthrogryposis, distal, type 1B; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2022-10-04T18:14:45.445235+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32066461; Phenotypes: Hyper-IgD syndrome / mevalonate kinase deficiciency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2022-10-04T17:23:25.120436+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2022-10-04T17:19:56.893519+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "edited their review of gene: XPC: Changed publications: PMID: 26255934",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2022-10-04T17:12:59.670042+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22044607, PMID: 32918226; Phenotypes: Xeroderma pigmentosum, group C MIM#278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2022-10-04T16:58:51.543410+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.155",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: TRAF3 was added\ngene: TRAF3 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: TRAF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRAF3 were set to PMID: 35960817\nPhenotypes for gene: TRAF3 were set to hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome\nReview for gene: TRAF3 was set to GREEN\nAdded comment: Nine individuals from five unrelated families with childhood-onset immune diseases and recurrent infections. All patients had suffered recurrent ear and sinopulmonary infections, including pneumonias from encapsulated bacteria Streptococcus pneumoniae and Haemophilus influenza, resulting in early-onset bronchiectasis in several individuals \nSources: Literature",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2022-10-04T16:27:38.927243+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MUTYH Polyposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUTYH",
"entity_type": "gene"
},
{
"created": "2022-10-04T16:22:25.991513+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2022-10-04T16:19:36.847058+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndrome-9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2022-10-04T16:16:01.577499+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-10-04T16:12:46.972206+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2022-10-04T16:04:33.961749+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis, parietal foramina; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSX2",
"entity_type": "gene"
},
{
"created": "2022-10-04T15:59:31.669793+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30817990; Phenotypes: Glucocorticoid deficiency 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2022-10-04T15:55:59.828828+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "edited their review of gene: MTM1: Changed phenotypes: X-linked myotubular myopathy",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-10-04T15:54:31.733517+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2022-10-04T15:48:09.509344+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:59:36.094503+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT1B (AD), Dejerine-Sottas disease (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:54:14.055159+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:48:59.389214+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32703794; Phenotypes: Congenital amegakaryocytic thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:45:15.025459+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, 19101627; Phenotypes: Congenital disorder of glycosylation 1b; Mode of inheritance: None",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:41:31.696564+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MPDU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:34:54.005379+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MOCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: molybdenum cofactor deficiency B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:31:26.526943+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20385644, PMID: 26343839; Phenotypes: molybdenum cofactor deficiency A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:25:20.985522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malonyl-CoA decarboxylase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:11:57.133936+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301777; Phenotypes: Immunodeficiency MIM#176947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2022-10-04T13:03:00.668928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301585; Phenotypes: Mowat-Wilson syndrome MIM# 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2022-10-04T12:57:16.384385+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442327; Phenotypes: holoprosencephaly MIM#603073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2022-10-04T12:53:52.976029+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.274",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442328, PMID: 27406248; Phenotypes: X linked heterotaxy and congenital heart defects MIM:306955; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:51:32.448804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFA.",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:51:08.460938+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFA as ready",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:51:08.451845+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfa has been classified as Red List (Low Evidence).",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:51:03.158354+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM# 231680",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:50:36.936231+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:50:06.911457+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ETFA as Red List (low evidence)",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:50:06.901110+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfa has been classified as Red List (Low Evidence).",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:49:38.588782+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:48:43.803276+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFA.",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:48:11.670498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFA.",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T21:47:46.228987+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFA.",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-10-03T12:01:57.915283+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFDH.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T12:01:35.153302+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFDH.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T12:01:12.689505+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFDH.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T12:00:53.524463+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFDH as ready",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T12:00:53.514764+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Red List (Low Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T12:00:49.230275+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM#231680",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T12:00:05.101829+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-10-03T12:00:01.576586+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETFDH.",
"entity_name": "ETFDH",
"entity_type": "gene"
}
]
}