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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1988",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1986",
"results": [
{
"created": "2020-01-14T17:51:03.286324+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2020-01-14T17:50:02.374127+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZC3H14 as ready",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2020-01-14T17:50:02.368634+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two families reported.",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2020-01-14T17:50:02.321284+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zc3h14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2020-01-14T17:49:52.411916+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2020-01-14T17:49:31.523364+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZC3H14 were set to ",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2020-01-14T17:48:55.242436+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZC3H14 as Amber List (moderate evidence)",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2020-01-14T17:48:55.230938+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zc3h14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2020-01-14T17:48:14.465854+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZC3H14 as ready",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2020-01-14T17:48:14.453769+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zc3h14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:23:13.510209+11:00",
"panel_name": "Brain calcification_VCGS",
"panel_id": 58,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KIAA1161 as Green List (high evidence)",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:23:13.497465+11:00",
"panel_name": "Brain calcification_VCGS",
"panel_id": 58,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kiaa1161 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:22:05.724154+11:00",
"panel_name": "Brain calcification_VCGS",
"panel_id": 58,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KIAA1161 was added\ngene: KIAA1161 was added to Brain calcification_VCGS. Sources: Literature\nMode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1161 were set to PubMed: 30656188, 30649222, 30460687, 29910000\nPhenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317\nReview for gene: KIAA1161 was set to GREEN\nAdded comment: Total 9 families, but no functional evidence:\r\n\r\n12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function. \r\n\r\n1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. \r\n\r\n2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed. \r\n\r\n4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. \nSources: Literature",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:12:48.059161+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFHX3 as ready",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:12:48.053712+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Emerging evidence.",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:12:48.023318+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:12:20.936624+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFHX3 as Amber List (moderate evidence)",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:12:20.925208+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:12:14.542661+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:10:54.541447+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6AP1 as ready",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:10:54.529760+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:10:29.887856+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6AP1 as Green List (high evidence)",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:10:29.875628+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:06:56.123225+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B5 as ready",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:06:56.110638+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b5 has been classified as Red List (Low Evidence).",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:04:31.438842+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF2 as ready",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:04:31.426740+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf2 has been classified as Red List (Low Evidence).",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:03:34.613161+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLLN as ready",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:03:34.607951+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Epigenetic modification of the promoter linked to Cowden syndrome.",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:03:34.566035+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klln has been classified as Red List (Low Evidence).",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:03:26.808732+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLLN were set to ",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:02:56.544563+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLLN as Red List (low evidence)",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:02:56.533353+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klln has been classified as Red List (Low Evidence).",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:02:23.305418+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLLN as ready",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:02:23.293780+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klln has been classified as Red List (Low Evidence).",
"entity_name": "KLLN",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:01:16.714944+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LSM1 as ready",
"entity_name": "LSM1",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:01:16.703347+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsm1 has been classified as Red List (Low Evidence).",
"entity_name": "LSM1",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:00:27.947022+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MACROD2 as ready",
"entity_name": "MACROD2",
"entity_type": "gene"
},
{
"created": "2020-01-14T16:00:27.935013+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macrod2 has been classified as Red List (Low Evidence).",
"entity_name": "MACROD2",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:59:55.954984+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM4 as ready",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:59:55.943077+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm4 has been classified as Red List (Low Evidence).",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:27.205268+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KREMEN1 was added\ngene: KREMEN1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:27.132094+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSPEAR was added\ngene: TSPEAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:27.056200+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT74 was added\ngene: KRT74 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: KRT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KRT74 were set to 24714551\nPhenotypes for gene: KRT74 were set to ?Ectodermal dysplasia 7, hair/nail type, 614929",
"entity_name": "KRT74",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.977996+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT85 was added\ngene: KRT85 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032",
"entity_name": "KRT85",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.901945+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CST6 was added\ngene: CST6 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CST6 were set to 30425301\nPhenotypes for gene: CST6 were set to ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.827840+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSX1 was added\ngene: MSX1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MSX1 were set to Ectodermal dysplasia 3, Witkop type, 189500",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.749520+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KDF1 was added\ngene: KDF1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KDF1 were set to 30977908; 27838789; 24075906\nPhenotypes for gene: KDF1 were set to ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.676415+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WNT10A was added\ngene: WNT10A was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndrome",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.601608+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR35 was added\ngene: WDR35 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR35 were set to Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.529694+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TP63 was added\ngene: TP63 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.457200+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RMRP was added\ngene: RMRP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.384742+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NECTIN4 was added\ngene: NECTIN4 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1",
"entity_name": "NECTIN4",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.312735+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKD1 was added\ngene: PRKD1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PRKD1 were set to Congenital heart defects and ectodermal dysplasia",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.235554+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PORCN was added\ngene: PORCN was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PORCN 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: PORCN were set to Focal dermal hypoplasia",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:26.163266+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PAX9 was added\ngene: PAX9 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX9 were set to Tooth agenesis, selective, 3",
"entity_name": "PAX9",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.810726+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPLKIP was added\ngene: MPLKIP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.734391+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LRP6 was added\ngene: LRP6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: LRP6 were set to Tooth agenesis, selective, 7",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.663170+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: JUP was added\ngene: JUP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia, Naxos disease",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.591267+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFT122 was added\ngene: IFT122 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT122 were set to Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.519472+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HR was added\ngene: HR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HR were set to Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.448614+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HOXC13 was added\ngene: HOXC13 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.375030+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJB6 was added\ngene: GJB6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GJB6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJB6 were set to Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)",
"entity_name": "GJB6",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.300480+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJB2 was added\ngene: GJB2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJB2 were set to Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.225513+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EVC2 was added\ngene: EVC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EVC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, Weyers acrodental dysostosis",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.153315+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EVC was added\ngene: EVC was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EVC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EVC were set to Weyers acrofacial dysostosis, Ellis-van Creveld syndrome",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.080773+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:25.000981+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EDARADD was added\ngene: EDARADD was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EDARADD were set to Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:24.929729+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EDAR was added\ngene: EDAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:24.858924+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EDA was added\ngene: EDA was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:24.787650+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DSP was added\ngene: DSP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DSP were set to Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholytic",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:24.708429+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CDH3 was added\ngene: CDH3 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:24.561560+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCS1L were set to Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-01-14T15:25:24.516738+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Ectodermal Dysplasia_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-14T14:23:44.672731+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TYMP was added\ngene: TYMP was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYMP were set to MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:44.601963+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOX10 was added\ngene: SOX10 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SOX10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SOX10 were set to Waardenburg syndrome w/pigmentary abnormalities",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:44.531204+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGO1 was added\ngene: SGO1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:44.458869+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RET were set to {Hirschsprung disease, susceptibility to, 1}, 142623",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:44.388564+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAD21 was added\ngene: RAD21 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RAD21 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAD21 were set to Mungan syndrome: Barrett esophagus, megaduodenum, cardiac abnormalities",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:44.317980+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:44.247228+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYLK was added\ngene: MYLK was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYLK were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:44.175103+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYH11 was added\ngene: MYH11 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYH11 were set to 31044419; 31427716; 25407000\nPhenotypes for gene: MYH11 were set to Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:44.103773+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMOD1 was added\ngene: LMOD1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMOD1 were set to 28292896\nPhenotypes for gene: LMOD1 were set to Megacystis microcolon intestinal hypoperistalsis syndrome",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:44.032613+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FLNA were set to Periventricular heterotopia in males, seizures in females",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:43.961059+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EDNRB was added\ngene: EDNRB was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EDNRB were set to Waardenburg syndrome w/pigmentary abnormalities",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:43.892239+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EDN3 was added\ngene: EDN3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EDN3 were set to Waardenburg syndrome w/pigmentary abnormalities",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:43.819995+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHRM3 was added\ngene: CHRM3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRM3 were set to Posterior urethral valves & prune belly syndrome",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:43.748568+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACTG2 was added\ngene: ACTG2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ACTG2 were set to Visceral myopathy, 155310",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:43.678381+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACTA2 was added\ngene: ACTA2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ACTA2 were set to Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:23:43.633208+11:00",
"panel_name": "Visceral Myopathy_RMH",
"panel_id": 3087,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Visceral Myopathy_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-14T14:19:01.030109+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MET as ready",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:19:01.018449+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: met has been classified as Red List (Low Evidence).",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:18:05.402632+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:18:05.391346+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Red List (Low Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:17:26.129753+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGME1 as ready",
"entity_name": "MGME1",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:17:26.118516+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgme1 has been classified as Red List (Low Evidence).",
"entity_name": "MGME1",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:16:45.220387+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGP as ready",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:16:45.209228+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgp has been classified as Red List (Low Evidence).",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:16:11.090902+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MID2 as ready",
"entity_name": "MID2",
"entity_type": "gene"
},
{
"created": "2020-01-14T14:16:11.078239+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mid2 has been classified as Red List (Low Evidence).",
"entity_name": "MID2",
"entity_type": "gene"
}
]
}