HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=538",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=536",
"results": [
{
"created": "2023-10-08T17:06:46.834319+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG7 as ready",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:06:46.820337+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog7 has been classified as Green List (High Evidence).",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:06:43.875322+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:06:06.795229+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG7 were set to ",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:05:28.609004+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:04:33.328557+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP2 as ready",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:04:33.316454+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap2 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:04:29.798718+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:03:44.946525+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP2 were set to ",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:03:06.952395+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2023-10-07T13:40:56.900443+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT6 were changed from Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies to Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2023-10-07T13:40:23.607423+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAT6 were set to PMID: 36216080",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2023-10-07T13:39:46.302263+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2023-10-07T13:39:21.830904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT6 were changed from Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies to Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2023-10-07T13:38:56.397316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STAT6: Changed phenotypes: Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2023-10-06T21:01:27.559096+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-10-06T21:01:27.541736+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-10-06T21:01:22.884242+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A2 were changed from to Kufor-Rakeb syndrome, MIM# 606693",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-10-06T21:00:49.508618+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-10-06T21:00:11.587633+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP13A2 as Amber List (moderate evidence)",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-10-06T21:00:11.576013+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:59:36.674613+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome, MIM# 606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:55:54.170565+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:55:54.160697+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:55:25.876735+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRAF were changed from to Cardiofaciocutaneous syndrome (MIM# 115150); Noonan syndrome (MIM# 613706); LEOPARD syndrome (MIM# 613707)",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:54:52.709897+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRAF were set to ",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:54:19.374230+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:53:47.554238+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:53:00.724415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA4 as ready",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:53:00.709144+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca4 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:52:55.837398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA4 were changed from to Coffin-Siris syndrome 4 (MIM# 614609)",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:52:23.558822+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCA4 were set to ",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:51:46.474791+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SMARCA4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:51:15.146567+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:50:26.567801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC3 as ready",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:50:26.558809+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc3 has been classified as Green List (High Evidence).",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:50:14.943647+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC3 were changed from to Cornelia de Lange syndrome 3 MONDO:0012555",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:48:53.674331+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMC3 were set to ",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:48:15.808443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:47:28.610603+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC1A as ready",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:47:28.601746+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:47:22.759364+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2 MONDO:0010370",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:46:44.675714+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMC1A were set to ",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:46:11.976077+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMC1A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:45:27.044617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCB1 as ready",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:45:27.032252+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:45:22.316976+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCB1 were changed from to Coffin-Siris syndrome 3 (MIM# 614608); MONDO:0015452",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:44:47.858148+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCB1 were set to ",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:44:03.999192+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SMARCB1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-10-06T20:43:33.298801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:12:08.005018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRP68 as ready",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:12:07.992418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp68 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:11:54.745967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRP68 as Amber List (moderate evidence)",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:11:54.729106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp68 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:11:35.281372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRP68 was added\ngene: SRP68 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SRP68 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRP68 were set to 32273475\nPhenotypes for gene: SRP68 were set to Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534\nReview for gene: SRP68 was set to AMBER\nAdded comment: Single individual reported with bi-allelic LoF variants and presenting with infantile-onset severe neutropenia and recurrent infections. Multiple lines of functional evidence provided. \nSources: Expert list",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:11:13.748897+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRP68 as ready",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:11:13.737076+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp68 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:07:59.141819+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRP68 as Amber List (moderate evidence)",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:07:59.123421+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp68 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-06T12:07:06.694308+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRP68 was added\ngene: SRP68 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: SRP68 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRP68 were set to 32273475\nPhenotypes for gene: SRP68 were set to Neutropenia, severe congenital, 10, autosomal recessive, MIM# \t620534\nReview for gene: SRP68 was set to AMBER\nAdded comment: Single individual reported with bi-allelic LoF variants and presenting with infantile-onset severe neutropenia and recurrent infections. Multiple lines of functional evidence provided. \nSources: Expert list",
"entity_name": "SRP68",
"entity_type": "gene"
},
{
"created": "2023-10-05T15:21:02.826245+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23556151; Phenotypes: Coffin-Siris syndrome MONDO:0015452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-10-05T15:17:47.628392+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301283; Phenotypes: Cornelia de Lange syndrome 2 MONDO:0010370; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2023-10-05T15:14:38.987173+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301283; Phenotypes: Cornelia de Lange syndrome 3 MONDO:0012555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2023-10-05T14:58:48.176753+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 22426308, 29907796, 3175698; Phenotypes: Coffin-Siris syndrome 3 (MIM# 614608); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-10-05T14:47:05.660045+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "changed review comment from: Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges.\r\n\r\nMissense and an in-frame deletion in SCARCA4 have been observed across 15 CSS patients in the literature (22426308, 23637025, 23929686), suggesting a dominant negative GoF effect. \r\n\r\nLoF variants in SMARCA4 result in Rhabdoid tumor predisposition syndrome, which does not exhibit ID.; to: Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges.\r\n\r\nMissense and an in-frame deletion in SMARCA4 have been observed across 15 CSS patients in the literature (22426308, 23637025, 23929686), suggesting a dominant negative GoF effect. \r\n\r\nLoF variants in SMARCA4 result in Rhabdoid tumor predisposition syndrome, which does not exhibit ID.",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-10-05T14:43:23.918472+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 22426308, 23929686, 23637025; Phenotypes: Coffin-Siris syndrome 4 (MIM# 614609); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-10-05T14:10:50.053411+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10610177, 16474404, 19206169; Phenotypes: Cardiofaciocutaneous syndrome (MIM# 115150), Noonan syndrome (MIM# 613706), LEOPARD syndrome (MIM# 613707); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:44:55.400533+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP1 as ready",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:44:55.391216+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Green List (High Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:44:50.450256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP1 were changed from to developmental and epileptic encephalopathy, 4 MONDO:0012812",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:44:15.992078+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STXBP1 were set to ",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:43:29.427651+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:42:29.891128+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FH as ready",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:42:29.882664+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:42:25.130594+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FH were changed from to Fumarase deficiency (MIM# 606812)",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:41:50.097099+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FH were set to ",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:41:12.434626+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:40:19.993901+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM70 as ready",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:40:19.973040+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem70 has been classified as Green List (High Evidence).",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:39:06.203745+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:38:29.071265+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM70 were set to ",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:38:19.402914+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5541",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31746132, 29052812, 21560188; Phenotypes: Fumarase deficiency (MIM# 606812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:37:54.367386+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:37:16.598339+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:36:15.356582+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM240 as ready",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:36:15.345429+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem240 has been classified as Green List (High Evidence).",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:36:06.614170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM240 were set to ",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:35:31.378809+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM240 were changed from to Spinocerebellar ataxia 21, MIM#\t607454; spinocerebellar ataxia type 21 MONDO:0011833",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:35:04.736389+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM240 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:34:15.449790+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:34:15.440705+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Green List (High Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:34:11.205843+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2 MONDO:0011963",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:33:19.645567+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM216 were set to ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:29:56.552754+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:29:11.989850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMCO1 as ready",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:29:11.973031+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmco1 has been classified as Green List (High Evidence).",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:29:07.640485+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMCO1 were changed from to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#\t213980; cerebrofaciothoracic dysplasia MONDO:0008952",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:28:22.841714+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMCO1 were set to ",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:27:48.351615+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:27:01.251170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF4 as ready",
"entity_name": "TCF4",
"entity_type": "gene"
}
]
}