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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2045",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2043",
"results": [
{
"created": "2019-12-12T17:14:59.717646+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ADGRG6 was changed from to None",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:14:54.184266+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADGRG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:14:37.410897+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRG6 as Red List (low evidence)",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:14:37.403124+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Red List (Low Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:14:10.938467+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG6 as ready",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:14:10.930449+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Red List (Low Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:14:08.515798+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRG6 were changed from to Lethal congenital contracture syndrome 9; OMIM #616503",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:13:47.864614+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRG6 were set to ",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:13:26.693883+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADGRG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:13:05.148070+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRG6 as Red List (low evidence)",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:13:05.141274+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Red List (Low Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:12:38.063624+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRG6: Rating: RED; Mode of pathogenicity: None; Publications: 30549416; Phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:11:09.241609+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG6 as ready",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:11:09.234562+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Red List (Low Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:08:08.189610+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA5 as ready",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:08:08.182124+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra5 has been classified as Green List (High Evidence).",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:08:02.914276+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRA5 as Green List (high evidence)",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:08:02.906882+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra5 has been classified as Green List (High Evidence).",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:07:32.685481+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRA5 was added\ngene: GABRA5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRA5 were set to 31056671; 29961870\nPhenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559\nReview for gene: GABRA5 was set to GREEN\nAdded comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current. \nSources: Literature",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:05:14.474334+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA5 as ready",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:05:14.467253+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra5 has been classified as Green List (High Evidence).",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:05:03.954803+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRA5 as Green List (high evidence)",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:05:03.947290+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra5 has been classified as Green List (High Evidence).",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:04:44.115087+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRA5 was added\ngene: GABRA5 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRA5 were set to 31056671; 29961870\nPhenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559\nReview for gene: GABRA5 was set to GREEN\nAdded comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current. \nSources: Literature",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:02:09.726971+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRY as ready",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:02:09.719598+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fry has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:02:05.550060+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRY were changed from no OMIM number yet to Intellectual disability; no OMIM number yet",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:01:40.186815+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRY as ready",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:01:40.179638+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fry has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:01:29.348906+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRY as Amber List (moderate evidence)",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:01:29.342004+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fry has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T17:01:09.712955+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRY was added\ngene: FRY was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRY were set to 31487712; 27457812; 21937992\nPhenotypes for gene: FRY were set to Intellectual disability\nReview for gene: FRY was set to AMBER\nAdded comment: 1 patient with ID/DD and a novel homozygous deletion involving FRY gene identified by genomic SNP microarray. No functional evidence.\r\n\r\n2 consanguineous families with 6 affected individuals with ID, and homozygous mutations of FRY. No functional evidence. \nSources: Literature",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:58:14.153475+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXL3 as ready",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:58:14.146623+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl3 has been classified as Green List (High Evidence).",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:58:00.524772+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXL3 as Green List (high evidence)",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:58:00.516821+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl3 has been classified as Green List (High Evidence).",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:57:44.064988+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXL3 was added\ngene: FBXL3 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXL3 were set to 30481285\nPhenotypes for gene: FBXL3 were set to Intellectual developmental disorder with short stature, facial anomalies, and speech defects; OMIM #606220\nReview for gene: FBXL3 was set to GREEN\nAdded comment: Three unrelated families, multiple affected individuals. \nSources: Literature",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:53:57.816688+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXL3 as ready",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:53:57.813608+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Three families, all different variants, promote to green.",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:53:57.783902+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl3 has been classified as Green List (High Evidence).",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:52:05.194571+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXL3 as Green List (high evidence)",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T16:52:05.186682+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl3 has been classified as Green List (High Evidence).",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:21:58.014934+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETS1 as ready",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:21:58.007301+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ets1 has been classified as Red List (Low Evidence).",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:21:39.922214+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETS1 was added\ngene: ETS1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ETS1 were set to 31160359\nPhenotypes for gene: ETS1 were set to Intellectual disability\nReview for gene: ETS1 was set to RED\nAdded comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region. \nSources: Literature",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:19:53.877982+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETS1 as ready",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:19:53.869926+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ets1 has been classified as Red List (Low Evidence).",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:19:45.398098+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETS1 was added\ngene: ETS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ETS1 were set to 31160359\nPhenotypes for gene: ETS1 were set to Intellectual disability\nReview for gene: ETS1 was set to RED\nAdded comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region. \nSources: Literature",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:15:51.645884+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELMOD1 as ready",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:15:51.638665+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmod1 has been classified as Red List (Low Evidence).",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:15:39.600790+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELMOD1 was added\ngene: ELMOD1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELMOD1 were set to 31327155\nPhenotypes for gene: ELMOD1 were set to Intellectual disability\nReview for gene: ELMOD1 was set to RED\nAdded comment: Single family reported. \nSources: Literature",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:13:43.486390+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELMOD1 as ready",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:13:43.478778+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmod1 has been classified as Red List (Low Evidence).",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:13:34.232343+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELMOD1 was added\ngene: ELMOD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELMOD1 were set to 31327155\nPhenotypes for gene: ELMOD1 were set to Intellectual disability\nReview for gene: ELMOD1 was set to RED\nAdded comment: Single family reported. \nSources: Literature",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:10:02.601994+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF1D as ready",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:10:02.594463+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1d has been classified as Amber List (Moderate Evidence).",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:09:46.562972+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EEF1D as Amber List (moderate evidence)",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:09:46.555163+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1d has been classified as Amber List (Moderate Evidence).",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:09:26.136702+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EEF1D was added\ngene: EEF1D was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EEF1D were set to 30787422; 28097321\nPhenotypes for gene: EEF1D were set to Intellectual disability\nReview for gene: EEF1D was set to AMBER\nAdded comment: Two unrelated families reported; one as part of a very large cohort of consanguineous families reporting multiple new candidate genes. No functional data. \nSources: Literature",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:06:23.684262+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF1D as ready",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:06:23.676658+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1d has been classified as Amber List (Moderate Evidence).",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:06:16.032265+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EEF1D as Amber List (moderate evidence)",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:06:16.024392+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1d has been classified as Amber List (Moderate Evidence).",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:06:02.470323+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EEF1D was added\ngene: EEF1D was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EEF1D were set to 30787422; 28097321\nPhenotypes for gene: EEF1D were set to Intellectual disability\nReview for gene: EEF1D was set to AMBER\nAdded comment: Two unrelated families reported; one as part of a very large cohort of consanguineous families reporting multiple new candidate genes. No functional data. \nSources: Literature",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:01:55.897744+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC1I2 as ready",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:01:55.890229+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:01:49.123489+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DYNC1I2 as Green List (high evidence)",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:01:49.116003+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T13:01:21.856712+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC1I2 was added\ngene: DYNC1I2 was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC1I2 were set to 31079899\nPhenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies\t, MIM#618492\nReview for gene: DYNC1I2 was set to GREEN\nAdded comment: Five individuals from three unrelated families reported. \nSources: Literature",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:59:11.738297+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC1I2 as ready",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:59:11.731380+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:59:01.822389+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DYNC1I2 as Green List (high evidence)",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:59:01.814979+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:58:41.518748+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC1I2 was added\ngene: DYNC1I2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC1I2 were set to 31079899\nPhenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies\t, MIM#618492\nReview for gene: DYNC1I2 was set to GREEN\nAdded comment: Five individuals from three unrelated families reported. \nSources: Literature",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:56:50.523818+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC1I2 as ready",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:56:50.516325+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:56:41.005455+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DYNC1I2 as Green List (high evidence)",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:56:40.998154+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:56:28.290481+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC1I2 was added\ngene: DYNC1I2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC1I2 were set to 31079899\nPhenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies\t, MIM#618492\nReview for gene: DYNC1I2 was set to GREEN\nAdded comment: Five individuals from three unrelated families reported. \nSources: Literature",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:49:25.512410+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DTYMK as ready",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:49:25.505214+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtymk has been classified as Red List (Low Evidence).",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:49:13.158848+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DTYMK was added\ngene: DTYMK was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DTYMK were set to 31271740\nPhenotypes for gene: DTYMK were set to Intellectual disability; microcephaly\nReview for gene: DTYMK was set to RED\nAdded comment: Single family, two affected sibs with compound het variants reported. \nSources: Literature",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:47:18.785093+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DTYMK as ready",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:47:18.777278+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtymk has been classified as Red List (Low Evidence).",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:47:09.918818+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DTYMK was added\ngene: DTYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DTYMK were set to 31271740\nPhenotypes for gene: DTYMK were set to Intellectual disability; microcephaly\nReview for gene: DTYMK was set to RED\nAdded comment: Single family, two affected sibs with compound het variants reported. \nSources: Literature",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:38:52.338082+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJA1 as ready",
"entity_name": "DNAJA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:38:52.330968+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaja1 has been classified as Red List (Low Evidence).",
"entity_name": "DNAJA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:38:37.728514+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJA1 was added\ngene: DNAJA1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJA1 were set to 30972502\nPhenotypes for gene: DNAJA1 were set to Intellectual disability; seizures\nReview for gene: DNAJA1 was set to RED\nAdded comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene. \nSources: Literature",
"entity_name": "DNAJA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:36:44.850896+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJA1 as ready",
"entity_name": "DNAJA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:36:44.843170+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaja1 has been classified as Red List (Low Evidence).",
"entity_name": "DNAJA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:36:34.976269+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJA1 was added\ngene: DNAJA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJA1 were set to 30972502\nPhenotypes for gene: DNAJA1 were set to Intellectual disability; seizures\nReview for gene: DNAJA1 was set to RED\nAdded comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene. \nSources: Literature",
"entity_name": "DNAJA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:17.480523+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLL1 as ready",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:17.472959+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll1 has been classified as Green List (High Evidence).",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:09.502561+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLL1 were changed from to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:30:56.424321+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLL1 were set to ",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:30:38.473308+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:30:17.566160+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Intellectual disability, autism, seizures, variable brain abnormalities, scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:29:06.286469+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLL1 as ready",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:29:06.278424+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll1 has been classified as Green List (High Evidence).",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:28:57.919651+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLL1 as Green List (high evidence)",
"entity_name": "DLL1",
"entity_type": "gene"
}
]
}