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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1546",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1544",
"results": [
{
"created": "2020-10-09T21:40:34.761507+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFSD8 as Green List (high evidence)",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:40:34.751061+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Green List (High Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:40:26.074855+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 OMIM #610951\nReview for gene: MFSD8 was set to GREEN\nAdded comment: Retinal degeneration is part of the phenotype. \nSources: Expert Review",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:37:36.646405+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACBD5 as ready",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:37:36.635268+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acbd5 has been classified as Green List (High Evidence).",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:37:34.742124+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy (MIM#618863)",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:37:19.496812+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:37:08.266671+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799409, 23105016; Phenotypes: Retinal dystrophy with leukodystrophy (MIM#618863); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:35:05.985728+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP1 as ready",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:35:05.977494+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:35:01.278856+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPP1 as Green List (high evidence)",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:35:01.246609+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:34:47.723729+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500\nReview for gene: TPP1 was set to GREEN\nAdded comment: Retinal degeneration is part of the phenotype. \nSources: Expert Review",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:32:32.581253+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPT1 as ready",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:32:32.573039+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppt1 has been classified as Green List (High Evidence).",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:32:20.924899+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPT1 as Green List (high evidence)",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:32:20.913865+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppt1 has been classified as Green List (High Evidence).",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:32:12.308609+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPT1 was added\ngene: PPT1 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, MIM#256730\nReview for gene: PPT1 was set to GREEN\nAdded comment: Retinal degeneration is part of the phenotype. \nSources: Expert Review",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:29:25.363810+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRN as ready",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:29:25.350509+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grn has been classified as Green List (High Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:29:17.405524+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRN as Green List (high evidence)",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:29:17.397565+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grn has been classified as Green List (High Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:29:07.803966+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRN was added\ngene: GRN was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11, OMIM #614706\nReview for gene: GRN was set to GREEN\nAdded comment: Retinal degeneration is part of the phenotype. \nSources: Expert Review",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:26:33.307537+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSF as ready",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:26:33.299930+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Green List (High Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:26:23.977838+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTSF as Green List (high evidence)",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:26:23.967920+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Green List (High Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:26:13.990457+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSF was added\ngene: CTSF was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362\nReview for gene: CTSF was set to GREEN\nAdded comment: Retinal degeneration is a feature. \nSources: Expert Review",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:25:00.393600+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSD as ready",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:25:00.385782+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsd has been classified as Green List (High Evidence).",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:24:56.625547+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTSD as Green List (high evidence)",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:24:56.618003+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsd has been classified as Green List (High Evidence).",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:24:44.118444+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSD was added\ngene: CTSD was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, OMIM #610127\nReview for gene: CTSD was set to GREEN\nAdded comment: Retinal degeneration is part of the phenotype. \nSources: Expert Review",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:23:21.909199+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN8 as ready",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:23:21.900395+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Green List (High Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:23:16.075446+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLN8 as Green List (high evidence)",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:23:16.065110+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Green List (High Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:23:06.442335+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN8 was added\ngene: CLN8 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 OMIM #600143\nReview for gene: CLN8 was set to GREEN\nAdded comment: Retinal degeneration is part of the phenotype. \nSources: Expert Review",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:21:56.932894+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-09T21:21:21.650508+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:21:21.640418+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:21:17.256589+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLN6 as Green List (high evidence)",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:21:17.246115+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:21:06.808173+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN6 was added\ngene: CLN6 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6 OMIM #601780\nReview for gene: CLN6 was set to GREEN\nAdded comment: Retinal degeneration is a feature. \nSources: Expert Review",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:19:43.667741+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN5 as ready",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:19:43.656801+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Green List (High Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:19:38.806843+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLN5 as Green List (high evidence)",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:19:38.796267+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Green List (High Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-10-09T21:19:29.770466+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN5 was added\ngene: CLN5 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5 OMIM #256731\nReview for gene: CLN5 was set to GREEN\nAdded comment: Retinal degeneration is a feature. \nSources: Expert Review",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:33:49.083427+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRIT1 as ready",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:33:49.075083+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krit1 has been classified as Green List (High Evidence).",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:33:44.006859+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRIT1 were changed from Cerebral cavernous malformations 1; Cerebral cavernous malformations-1, 116860; Cerebral Cavernous Malformations; Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas; Familial Cerebral Cavernous Malformation; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 to Cavernous malformations of CNS and retina, 116860; Cerebral cavernous malformations-1, 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:33:27.587409+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: KRIT1.",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:33:18.779939+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRIT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:32:55.674861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: KRIT1.",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:32:25.007432+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: KRIT1.",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:32:07.291669+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473). Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM)\r\n\r\nAmerican-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM); to: American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM)",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:31:39.528904+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473). Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM); to: Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473). Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM)\r\n\r\nAmerican-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM)",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:31:07.891129+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571644, 29593473; Phenotypes: Cavernous malformations of CNS and retina, 116860, Cerebral cavernous malformations-1, 116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:28:22.323265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRIT1 as ready",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:28:22.312816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krit1 has been classified as Green List (High Evidence).",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:28:14.885989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRIT1 were changed from to Cavernous malformations of CNS and retina, 116860; Cerebral cavernous malformations-1, 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:27:23.717359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRIT1 were set to ",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:26:58.446371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:23:15.685027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH3TC2 as ready",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:23:15.677123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh3tc2 has been classified as Green List (High Evidence).",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:23:05.096982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH3TC2 were changed from to Charcot-Marie-Tooth disease, type 4C MIM#601596, Mononeuropathy of the median nerve, mild MIM#613353",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:22:45.384415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SH3TC2 were set to ",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:22:24.475233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SH3TC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:22:05.727588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:20:43.257880+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHB4 as ready",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:20:43.249567+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephb4 has been classified as Green List (High Evidence).",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:20:35.027373+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPHB4 were set to ",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:20:25.638372+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:19:53.816278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:19:53.810010+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Evidence for mono-allelic variants causing disease is limited.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:19:53.770458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:19:07.117751+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:17:28.404722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPN3 as ready",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:17:28.393223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn3 has been classified as Green List (High Evidence).",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:17:19.531345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPN3 were changed from to Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129; Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:17:00.900038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAPN3 were set to ",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:16:40.929418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAPN3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:16:22.588027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937337, 28881388, 32342993, 32557990; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129, Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:14:00.730687+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAPN3 were set to 31937337; 28881388; 32342993",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:12:54.469274+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A5 as ready",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:12:54.458516+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:12:51.549356+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:12:22.683031+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A5 were set to ",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:11:46.416115+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T19:11:16.183153+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T16:05:57.267187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A5 as ready",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T16:05:57.255324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T16:05:49.040256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T16:05:36.256732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4849",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16571644, 29593473; Phenotypes: Cavernous malformations of CNS and retina, 116860, Cerebral cavernous malformations-1, 116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-10-09T16:05:30.462224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A5 were set to ",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T16:05:11.406649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SLC6A5 was changed from to Other",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T16:04:54.295099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T16:04:33.421428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:47:00.350374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
}
]
}