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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1827",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1825",
"results": [
{
"created": "2020-04-21T11:18:19.558512+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:17:46.772559+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27789573, 29100083; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:17:07.086787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRB2 were changed from Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:16:57.994388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:16:28.452109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GABRB2 was changed from to Other",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:16:02.926553+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDE1 as ready",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:16:02.917431+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nde1 has been classified as Green List (High Evidence).",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:15:59.016747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:15:06.751906+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:14:44.471733+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDE1 were set to ",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:14:16.788141+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:13:46.979706+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30637988; Phenotypes: Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:12:25.099248+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.33",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 29706646; Phenotypes: Polymicrogyria, hypoplastic corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:12:02.930346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDE1 as ready",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:12:02.922258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: The two OMIM phenotypes likely represent a spectrum of brain abnormalities associated with this gene.",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:12:02.876422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nde1 has been classified as Green List (High Evidence).",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:11:46.612455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:11:30.557360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDE1 were set to ",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:11:15.429908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:05:54.994971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC45 as ready",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:05:54.985610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc45 has been classified as Green List (High Evidence).",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:05:47.208197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC45 were changed from to Meier-Gorlin syndrome 7, MIM 617063",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:05:07.885445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDC45 were set to ",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:04:48.209283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDC45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:03:57.861689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPSF1 were changed from Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia to Myopia 27, 618827; high myopia; early-onset high myopia",
"entity_name": "CPSF1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:03:28.317891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPSF1 as ready",
"entity_name": "CPSF1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:03:28.304490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpsf1 has been classified as Green List (High Evidence).",
"entity_name": "CPSF1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:03:06.113542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPSF1 as Green List (high evidence)",
"entity_name": "CPSF1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:03:06.104488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpsf1 has been classified as Green List (High Evidence).",
"entity_name": "CPSF1",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:02:10.681595+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS19 as ready",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:02:10.668014+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:02:06.494437+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS19 as Amber List (moderate evidence)",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:02:06.485642+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-21T11:01:37.486270+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS19 was added\ngene: ADAMTS19 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS19 were set to 31844321\nPhenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease\nReview for gene: ADAMTS19 was set to AMBER\nAdded comment: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype \nSources: Literature",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:58:30.861360+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:58:21.131399+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD4 as ready",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:58:21.111629+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Green List (High Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:58:08.417129+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:57:43.376170+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:57:23.627966+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to 31388190",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:56:51.596179+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to ",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:56:17.462823+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:55:39.079890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD4 as ready",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:55:39.066789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Green List (High Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:55:34.816834+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:55:10.681575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:54:39.128717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to ",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:54:24.534713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:53:43.230730+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASA1 as ready",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:53:43.216995+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Green List (High Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:53:41.327800+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation 608354 to Capillary malformation-arteriovenous malformation, MIM# 608354",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:53:26.554719+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RASA1 were set to ",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:53:14.157018+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:53:06.420456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1, MIM#608354",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:52:47.228291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RASA1 were set to ",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:52:04.534941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RASA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:51:25.659110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP69 as ready",
"entity_name": "CFAP69",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:51:25.646433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap69 has been classified as Green List (High Evidence).",
"entity_name": "CFAP69",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:51:17.424237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP69 were changed from to Asthenoteratospermia (Impaired sperm motility; severe flagellar abnormalities (short, coiled, absent or irregular calibre))",
"entity_name": "CFAP69",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:50:55.479602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP69 were set to ",
"entity_name": "CFAP69",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:50:40.780505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFAP69 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP69",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:50:03.003989+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: ABCA4.",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:49:34.780570+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA4 as ready",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:49:34.771038+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca4 has been classified as Green List (High Evidence).",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:49:30.765117+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCA4 were set to ",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:49:18.033176+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:48:33.412741+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA4 as ready",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:48:33.399889+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca4 has been classified as Green List (High Evidence).",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:48:29.300637+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCA4 were set to ",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:48:15.576029+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: ABCA4.",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:48:07.490763+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:45:30.658187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA4 as ready",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:45:30.649473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca4 has been classified as Green List (High Evidence).",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:45:13.034707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCA4 were changed from to Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:44:37.177830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCA4 were set to ",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:44:23.581465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:44:08.959090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: ABCA4.",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:43:29.620272+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLK2 as ready",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:43:29.608757+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlk2 has been classified as Green List (High Evidence).",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:43:23.775452+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:42:56.305048+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TLK2 were set to ",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:42:29.749922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:41:50.772897+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:39:55.093552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLK2 as ready",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:39:55.081252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlk2 has been classified as Green List (High Evidence).",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:39:46.544389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:39:23.541801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TLK2 were set to ",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:39:09.635807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:37:52.957662+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1A as ready",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:37:52.945807+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:37:47.467267+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DYRK1A as Green List (high evidence)",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:37:47.454856+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:37:14.984276+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYRK1A was added\ngene: DYRK1A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYRK1A were set to 25707398; 31263215\nPhenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7 (MIM#614104)\nReview for gene: DYRK1A was set to GREEN\nAdded comment: Review of 15 patients with pathogenic DYRK1A variants revealed 11 of whom presented with CAKUT/genital defects. Studies in Xenopus embryos supported findings (Blackburn 2019; PMID: 31263215) \nSources: Literature",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:35:34.235263+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1A as ready",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:35:34.222814+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:35:29.258219+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:34:55.790322+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYRK1A were set to ",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:34:18.502216+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:33:44.338822+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-04-21T10:33:25.762303+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
}
]
}