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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1990",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1988",
"results": [
{
"created": "2020-01-14T11:13:49.305025+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHRNE was added\ngene: CHRNE was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:49.235045+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHRND was added\ngene: CHRND was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Myasthenic syndrome, slow-channel congenital, 601462; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:49.161583+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHRNB1 was added\ngene: CHRNB1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNB1 were set to Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:49.090555+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHRNA1 was added\ngene: CHRNA1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:49.020105+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHAT was added\ngene: CHAT was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Congenital myasthenics syndrome associated with episodic apnea; Myasthenic syndrome, congenital, 6, presynaptic, 254210",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:48.949476+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALG2 was added\ngene: ALG2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG2 were set to Congenital disorder of glycosylation CDG type Ii, 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:48.880339+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALG14 was added\ngene: ALG14 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:48.808661+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AGRN was added\ngene: AGRN was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:13:48.763428+11:00",
"panel_name": "Congenital Myaesthenic Syndrome_RMH",
"panel_id": 3078,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Congenital Myaesthenic Syndrome_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-14T11:01:00.349175+11:00",
"panel_name": "Heterotaxy_VCGS",
"panel_id": 108,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMYND10 as ready",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:01:00.325979+11:00",
"panel_name": "Heterotaxy_VCGS",
"panel_id": 108,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmynd10 has been classified as Green List (High Evidence).",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:00:54.628186+11:00",
"panel_name": "Heterotaxy_VCGS",
"panel_id": 108,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMYND10 were changed from to Ciliary dyskinesia, primary, 22, MIM#615444",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:00:29.290771+11:00",
"panel_name": "Heterotaxy_VCGS",
"panel_id": 108,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMYND10 were set to ",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T11:00:04.739308+11:00",
"panel_name": "Heterotaxy_VCGS",
"panel_id": 108,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:59:16.309355+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMYND10 were changed from to Ciliary dyskinesia, primary, 22, MIM#615444",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:58:55.345234+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMYND10 were set to ",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:58:32.584882+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:37.366441+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UROS was added\ngene: UROS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UROS were set to Porphyrias with erosive photodermatosis; Porphyria, congenital erythropoietic 263700",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:37.296461+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UROD was added\ngene: UROD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:37.226648+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PPOX was added\ngene: PPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PPOX were set to Porphyria variegata 176200",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:37.153862+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMBS was added\ngene: HMBS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HMBS were set to Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:37.083472+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HFE was added\ngene: HFE was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: HFE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HFE were set to {Porphyria cutanea tarda, susceptibility to}, 176100; {Porphyria variegata, susceptibility to}, 176200",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:37.013841+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GATA1 were set to 25251786; 17148589\nPhenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:36.942709+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FECH was added\ngene: FECH was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FECH were set to Protoporphyria, erythropoietic, autosomal recessive, 177000",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:36.870710+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CPOX was added\ngene: CPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CPOX were set to Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Harderoporphyria 121300",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:36.801680+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALAS2 was added\ngene: ALAS2 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALAS2 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: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:36.727834+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALAD was added\ngene: ALAD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALAD were set to Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias)",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:35:36.681116+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Porphyria_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-14T10:04:49.832485+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.2",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: ZMYND10 as ready",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:04:49.826885+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.2",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: More than 10 Families with hom and comp het variants and PCD",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:04:49.783680+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.2",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: zmynd10 has been classified as Green List (High Evidence).",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:01:27.190781+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:00:38.867775+11:00",
"panel_name": "Callosome_VCGS",
"panel_id": 205,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2E1 as ready",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:00:38.856164+11:00",
"panel_name": "Callosome_VCGS",
"panel_id": 205,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2e1 has been classified as Red List (Low Evidence).",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:00:27.484006+11:00",
"panel_name": "Callosome_VCGS",
"panel_id": 205,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR2E1 as Red List (low evidence)",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-01-14T10:00:27.471663+11:00",
"panel_name": "Callosome_VCGS",
"panel_id": 205,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2e1 has been classified as Red List (Low Evidence).",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-01-14T09:59:35.303388+11:00",
"panel_name": "Callosome_VCGS",
"panel_id": 205,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-01-13T22:00:28.368291+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTOG as ready",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-01-13T22:00:28.356758+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otog has been classified as Green List (High Evidence).",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-01-13T22:00:21.842858+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTOG were set to ",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-01-13T22:00:00.517989+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B, MIM#614945",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-01-13T21:49:40.499345+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-01-13T17:08:04.816314+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.226",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-01-13T17:07:19.779078+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.226",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-01-13T17:05:14.739224+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.226",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 29800624; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:11.574043+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VCP was added\ngene: VCP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VCP were set to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:11.498211+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTN was added\ngene: TTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTN were set to dilated cardiomyopathy; Distal myopathy; HMERF; Myofibrillar myopathy; Congenital myopathy; Muscular dystrophy, limb-girdle, type 2J, 608807; arthrogryposis",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:11.421883+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:11.344278+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRAPPC11 was added\ngene: TRAPPC11 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:11.266447+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNPO3 was added\ngene: TNPO3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TNPO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TNPO3 were set to Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:11.190043+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TCAP was added\ngene: TCAP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:11.114180+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SYNE1 was added\ngene: SYNE1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SYNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:11.038731+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGCG was added\ngene: SGCG was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.961272+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGCD was added\ngene: SGCD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.883435+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGCB was added\ngene: SGCB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.807462+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGCA was added\ngene: SGCA was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCA were set to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.731687+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PYROXD1 was added\ngene: PYROXD1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYROXD1 were set to 30515627\nPhenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; adult-onset limb girdle muscular dystrophy",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.658741+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POMT2 was added\ngene: POMT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.580363+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POMT1 was added\ngene: POMT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.507261+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POMK was added\ngene: POMK was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMK were set to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.432411+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POMGNT2 was added\ngene: POMGNT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.356117+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POMGNT1 was added\ngene: POMGNT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.280594+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POGLUT1 was added\ngene: POGLUT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.206035+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLEC was added\ngene: PLEC was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLEC were set to Muscular dystrophy with epidermolysis bullosa simplex, 226670",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.129753+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTM1 was added\ngene: MTM1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:10.055961+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.962125+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ISPD was added\ngene: ISPD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.887422+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNRNPDL was added\ngene: HNRNPDL was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, type 1G 609115",
"entity_name": "HNRNPDL",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.811310+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GMPPB was added\ngene: GMPPB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.737591+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FKTN was added\ngene: FKTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800; Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Cardiomyopathy, dilated, 1X, 611615",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.664185+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FKRP was added\ngene: FKRP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKRP were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.590784+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FHL1 was added\ngene: FHL1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FHL1 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: FHL1 were set to Emery-Dreifuss muscular dystrophy",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.518329+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EMD was added\ngene: EMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,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": "2020-01-13T15:27:09.443925+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DYSF was added\ngene: DYSF was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYSF were set to Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130; Muscular dystrophy, limb-girdle, type 2B, 253601",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.372946+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNAJB6 was added\ngene: DNAJB6 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb-girdle, type 1E, 603511",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.301564+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DMD was added\ngene: DMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,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; Becker muscular dystrophy 300376",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.226786+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DAG1 was added\ngene: DAG1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.154058+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL6A3 was added\ngene: COL6A3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A3 were set to Bethlem myopathy 1 158810",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.080635+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL6A2 was added\ngene: COL6A2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A2 were set to Bethlem myopathy 1 158810",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:09.005123+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL6A1 was added\ngene: COL6A1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A1 were set to Bethlem myopathy 1 158810",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:08.930671+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CAPN3 was added\ngene: CAPN3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:08.859320+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANO5 was added\ngene: ANO5 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:27:08.813616+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy_RMH",
"panel_id": 3071,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Limb Girdle Muscular Dystrophy_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-13T15:06:48.253824+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:48.172320+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMM2 were set to Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:48.090265+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MFF was added\ngene: MFF was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFF were set to Leigh-like syndrome, developmental delay, optic atrophy, seizures, sensory-motor neuropathy with SNCV, Leigh syndrome-like MRI brain (T2 high signal of basal ganglia and subthalamic nucleus)",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.999480+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC8 was added\ngene: ERCC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC8 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.918804+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.837582+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AP1S1 was added\ngene: AP1S1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP1S1 were set to Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.757040+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTRH2 was added\ngene: PTRH2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTRH2 were set to Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.670903+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMPD2 were set to 27066553\nPhenotypes for gene: AMPD2 were set to Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.587417+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXB were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.506289+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUCLA2 was added\ngene: SUCLA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLA2 were set to ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.419116+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATAD3A was added\ngene: ATAD3A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ATAD3A were set to Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.333902+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NGLY1 was added\ngene: NGLY1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGLY1 were set to Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.252968+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SNAP29 was added\ngene: SNAP29 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNAP29 were set to Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.172090+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMACR was added\ngene: AMACR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMACR were set to Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.090352+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ABCD1 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: ABCD1 were set to Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:47.009417+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP7B1 was added\ngene: CYP7B1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP7B1 were set to Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.930276+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALDH18A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ALDH18A1 were set to Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities",
"entity_name": "ALDH18A1",
"entity_type": "gene"
}
]
}