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{
"count": 220504,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2028",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2026",
"results": [
{
"created": "2019-12-24T11:04:54.678483+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP2 was added\ngene: LRP2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448\nReview for gene: LRP2 was set to GREEN\nAdded comment: Iris coloboma is part of the phenotype. \nSources: Expert list",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2019-12-24T11:03:00.951453+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMX1 as ready",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2019-12-24T11:03:00.940413+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmx1 has been classified as Green List (High Evidence).",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2019-12-24T11:02:56.312908+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMX1 as Green List (high evidence)",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2019-12-24T11:02:56.302196+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmx1 has been classified as Green List (High Evidence).",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2019-12-24T11:02:29.368975+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMX1 was added\ngene: HMX1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list\nMode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMX1 were set to Oculoauricular syndrome, MIM#612109\nReview for gene: HMX1 was set to GREEN\nAdded comment: Microphthalmia and ocular coloboma are part of the phenotype. \nSources: Expert list",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2019-12-24T11:00:28.841017+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN19 as ready",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2019-12-24T11:00:28.827566+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn19 has been classified as Green List (High Evidence).",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2019-12-24T11:00:25.235672+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN19 as Green List (high evidence)",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2019-12-24T11:00:25.224787+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn19 has been classified as Green List (High Evidence).",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:59:57.689141+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN19 was added\ngene: CLDN19 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, MIM#248190\nReview for gene: CLDN19 was set to GREEN\nAdded comment: Macular coloboma is part of the phenotype. \nSources: Expert list",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:58:13.317113+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:58:13.306220+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:58:07.953614+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CC2D2A as Green List (high evidence)",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:58:07.942993+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:57:40.184069+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to COACH syndrome, MIM#216360\nReview for gene: CC2D2A was set to GREEN\nAdded comment: Ocular coloboma is part of the phenotype. \nSources: Expert list",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:55:30.142965+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf57 as ready",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:55:30.131686+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf57 has been classified as Green List (High Evidence).",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:55:25.352207+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C12orf57 as Green List (high evidence)",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:55:25.340690+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf57 has been classified as Green List (High Evidence).",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:54:56.886988+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C12orf57 was added\ngene: C12orf57 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list\nMode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C12orf57 were set to Temtamy syndrome, MIM#218340\nReview for gene: C12orf57 was set to GREEN\nAdded comment: Ocular coloboma is part of the phenotype. \nSources: Expert list",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:52:49.983367+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GLCT as ready",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:52:49.972461+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3glct has been classified as Green List (High Evidence).",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:52:45.951928+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B3GLCT as Green List (high evidence)",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:52:45.940993+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3glct has been classified as Green List (High Evidence).",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:52:17.614120+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GLCT was added\ngene: B3GLCT was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GLCT were set to Peters-plus syndrome, MIM#261540\nReview for gene: B3GLCT was set to GREEN\nAdded comment: Retinal coloboma is part of the phenotype. \nSources: Expert list",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:50:28.112249+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:50:28.101013+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:50:23.147336+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTG1 as Green List (high evidence)",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:50:23.135028+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:49:55.703611+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTG1 was added\ngene: ACTG1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list\nMode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, MIM#614583\nReview for gene: ACTG1 was set to GREEN\nAdded comment: Microphthalmia and coloboma are part of the phenotype. \nSources: Expert list",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:48:10.169673+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:48:10.156969+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:48:04.886169+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTB as Green List (high evidence)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:48:04.874825+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:47:37.751997+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, MIM#243310\nReview for gene: ACTB was set to GREEN\nAdded comment: Iris coloboma is part of the phenotype. \nSources: Expert list",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:12.585689+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNF513 was added\ngene: ZNF513 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ZNF513 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF513 were set to Retinitis pigmentosa 58, 613617",
"entity_name": "ZNF513",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:12.511296+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNF408 was added\ngene: ZNF408 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ZNF408 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF408 were set to Retinitis pigmentosa 72; Familial exudative vitreoretinopathy (FEVR)",
"entity_name": "ZNF408",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:12.432040+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE26 were set to 18394578\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:12.353141+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USH2A was added\ngene: USH2A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH2A were set to Retinitis pigmentosa 39, 613809; Usher syndrome, type 2A, 276901",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:12.278375+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USH1C was added\ngene: USH1C was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1C were set to Usher syndrome, type 1C",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:12.205788+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TULP1 was added\ngene: TULP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TULP1 were set to Leber congenital amaurosis 15, 613843; Retinitis pigmentosa 14, 600132",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:12.129808+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTC8 was added\ngene: TTC8 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC8 were set to Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 209900",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.983263+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRNT1 was added\ngene: TRNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.908335+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPATA7 was added\ngene: SPATA7 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPATA7 were set to Leber Congenital Amaurosis; Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Leber congenital amaurosis 3",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.827247+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC7A14 was added\ngene: SLC7A14 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: SLC7A14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A14 were set to 27028480; 24670872\nPhenotypes for gene: SLC7A14 were set to Retinitis pigmentosa 68, 615725 (3)",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.750052+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SEMA4A was added\ngene: SEMA4A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SEMA4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.676969+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SAMD11 was added\ngene: SAMD11 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: SAMD11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SAMD11 were set to 27734943\nPhenotypes for gene: SAMD11 were set to Autosomal recessive retinitis pigmentosa",
"entity_name": "SAMD11",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.604307+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SAG was added\ngene: SAG was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAG were set to Oguchi disease-1, 258100; Retinitis pigmentosa 47",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.529718+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.451910+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPGR was added\ngene: RPGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RPGR 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: RPGR were set to Cone-rod dystrophy, X-linked, 1, 304020; Macular degeneration, X-linked atrophic, 300834; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Retinitis pigmentosa 3, 300029",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.380307+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPE65 was added\ngene: RPE65 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPE65 were set to Retinitis pigmentosa 20; Leber congenital amaurosis 2, 204100",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.308058+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RP2 was added\ngene: RP2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RP2 were set to Retinitis Pigmentosa, X-linked; Retinitis pigmentosa 2, 312600",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.235392+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RP1L1 was added\ngene: RP1L1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RP1L1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RP1L1 were set to 31833436; 31236346; 30025130\nPhenotypes for gene: RP1L1 were set to retinitis pigmentosa; Occult macular dystrophy, 613587",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.163774+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RP1 was added\ngene: RP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RP1 were set to Retinitis pigmentosa 1, 180100",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.086293+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RLBP1 was added\ngene: RLBP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RLBP1 were set to Retinitis punctata albescens; Newfoundland rod - cone dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Bothnia retinal dystrophy",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:11.011057+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RHO was added\ngene: RHO was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RHO were set to Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Retinitis punctata albescens; Congenital Stationary Night Blindness",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.937030+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RGR was added\ngene: RGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RGR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RGR were set to Retinitis pigmentosa 44, 613769",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.856536+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: REEP6 was added\ngene: REEP6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: REEP6 were set to Retinitis pigmentosa 77",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.785861+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RDH12 was added\ngene: RDH12 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712; Retinitis Pigmentosa, Recessive",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.713850+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RD3 was added\ngene: RD3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.642966+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBP3 was added\ngene: RBP3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBP3 were set to 19074801; 25766589; 19357286; 9614228\nPhenotypes for gene: RBP3 were set to Retinitis pigmentosa 66, 615233",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.568383+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PROM1 was added\ngene: PROM1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PROM1 were set to Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657",
"entity_name": "PROM1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.497955+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRCD was added\ngene: PRCD was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PRCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRCD were set to Retinitis pigmentosa 36, 610599",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.428072+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POMGNT1 was added\ngene: POMGNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_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 Retinitis pigmentosa 76",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.358734+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PMPCA was added\ngene: PMPCA was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red\nMode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.288340+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLA2G5 was added\ngene: PLA2G5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red\nMode of inheritance for gene: PLA2G5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G5 were set to Fleck retina, familial benign",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.218276+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PHYH was added\ngene: PHYH was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHYH were set to Refsum disease",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.145320+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX7 was added\ngene: PEX7 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to Refsum disease",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:10.000255+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDE6G was added\ngene: PDE6G was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6G were set to Retinitis pigmentosa 57, 613582",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.930687+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDE6B was added\ngene: PDE6B was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6B were set to Retinitis pigmentosa 40; Night blindness, congenital stationary, autosomal dominant 2",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.857494+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDE6A was added\ngene: PDE6A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDE6A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6A were set to Retinitis pigmentosa 43, 613810",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.769762+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C2orf71 was added\ngene: C2orf71 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C2orf71 were set to Retinitis pigmentosa 54",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.696959+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OFD1 was added\ngene: OFD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OFD1 were set to 28191358; 22619378; 29843741\nPhenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.626387+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OAT was added\ngene: OAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.551682+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NRL was added\ngene: NRL was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NRL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: NRL were set to Retinitis pigmentosa 27 (AD); Retinal degeneration, autosomal recessive, clumped pigment type (AR)",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.472705+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NR2E3 was added\ngene: NR2E3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NR2E3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: NR2E3 were set to Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR)",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.402527+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NEUROD1 was added\ngene: NEUROD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEUROD1 were set to 25477324; 29521454; 25684977\nPhenotypes for gene: NEUROD1 were set to ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.330674+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NEK2 was added\ngene: NEK2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: NEK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK2 were set to 24043777\nPhenotypes for gene: NEK2 were set to ?Retinitis pigmentosa 67, 615565",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.254183+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MVK was added\ngene: MVK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MVK were set to Mevalonic aciduria; Hyper-IgD syndrome",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.184563+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MFRP was added\ngene: MFRP was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFRP were set to Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:09.107984+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MERTK was added\ngene: MERTK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MERTK were set to childhood onset rod-cone dystrophy with early macular atrophy; Leber congenital amaurosisRetinitis pigmentosa 38, 613862",
"entity_name": "MERTK",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.964264+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAK was added\ngene: MAK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MAK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAK were set to Retinitis pigmentosa 62, 614181",
"entity_name": "MAK",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.890567+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LRAT was added\ngene: LRAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRAT were set to Leber Congenital Amaurosis; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile; Retinal dystrophy, early-onset severe, 613341",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.816736+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LCA5 was added\ngene: LCA5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.746294+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIZ was added\ngene: KIZ was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: KIZ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIZ were set to Retinitis pigmentosa 69",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.678016+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIAA1549 was added\ngene: KIAA1549 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIAA1549 were set to Retinitis pigmentosa 86",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.607683+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IMPG2 was added\ngene: IMPG2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: IMPG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581; Maculopathy, IMPG2 - related; Retinitis pigmentosa",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.538823+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFT172 was added\ngene: IFT172 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT172 were set to Retinitis pigmentosa 71",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.471461+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFT140 was added\ngene: IFT140 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT140 were set to Retinitis pigmentosa 80",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.403715+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IDH3B was added\ngene: IDH3B was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: IDH3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IDH3B were set to Retinitis pigmentosa 46, 612572",
"entity_name": "IDH3B",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.336915+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HGSNAT was added\ngene: HGSNAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGSNAT were set to Retinitis pigmentosa 73",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.268299+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GUCY2D was added\ngene: GUCY2D was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GUCY2D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GUCY2D were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy 6 (AD); Leber congenital amaurosis 1, 204000; Retinitis pigmentosa",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.199591+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLVCR1 was added\ngene: FLVCR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.130550+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAM161A was added\ngene: FAM161A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, 606068",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:08.063792+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EYS was added\ngene: EYS was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EYS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EYS were set to Retinitis pigmentosa 25, 602772",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:07.982337+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EMC1 was added\ngene: EMC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMC1 were set to 29271071; 23105016\nPhenotypes for gene: EMC1 were set to ?Retinitis pigmentosa; Cerebellar atrophy, visual impairment, and psychomotor retardation",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:07.914804+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DHX38 was added\ngene: DHX38 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DHX38 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHX38 were set to Retinitis pigmentosa 84, 618220",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:07.846640+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DHDDS was added\ngene: DHDDS was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2019-12-24T10:34:07.778277+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP4V2 was added\ngene: CYP4V2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CYP4V2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP4V2 were set to Retinitis pigmentosa; Bietti crystalline corneoretinal dystrophy, 210370",
"entity_name": "CYP4V2",
"entity_type": "gene"
}
]
}