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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2046",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2044",
"results": [
{
"created": "2019-12-12T12:28:57.912786+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": "2019-12-12T12:28:45.752936+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL1 was added\ngene: DLL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLL1 were set to 31353024\nPhenotypes for gene: DLL1 were set to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis\nReview for gene: DLL1 was set to GREEN\nAdded comment: Fifteen individuals from 12 unrelated families reported. \nSources: Literature",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:24:51.923908+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX6 as ready",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:24:51.915769+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx6 has been classified as Green List (High Evidence).",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:24:42.348778+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX6 as Green List (high evidence)",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:24:42.329570+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx6 has been classified as Green List (High Evidence).",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:24:14.495816+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX6 was added\ngene: DDX6 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX6 were set to 31422817\nPhenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653\nReview for gene: DDX6 was set to GREEN\nAdded comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences. \nSources: Literature",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:22:32.968203+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX6 as ready",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:22:32.960870+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx6 has been classified as Green List (High Evidence).",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:22:28.629268+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX6 as Green List (high evidence)",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:22:28.622029+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx6 has been classified as Green List (High Evidence).",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:22:12.942505+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX6 was added\ngene: DDX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX6 were set to 31422817,\nPhenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653\nReview for gene: DDX6 was set to GREEN\nAdded comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences. \nSources: Literature",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:07:40.279314+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYFIP2 as ready",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:07:40.271615+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyfip2 has been classified as Green List (High Evidence).",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:07:35.617679+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYFIP2 were changed from to Epileptic encephalopathy, early infantile, 65, MIM#618008",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:07:13.500745+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYFIP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:06:55.617201+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYFIP2 were set to ",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:06:38.601648+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYFIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:06:10.122096+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297; Phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:05:23.028934+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYFIP2 as ready",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:05:23.018956+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyfip2 has been classified as Green List (High Evidence).",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:05:15.452216+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYFIP2 were changed from to Epileptic encephalopathy, early infantile, 65, MIM#618008",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:04:59.485359+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYFIP2 were set to ",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:04:44.922350+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYFIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:04:25.860408+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297; Phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:03:31.903586+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYFIP2 as ready",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:03:31.896394+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyfip2 has been classified as Green List (High Evidence).",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:03:26.092594+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYFIP2 as Green List (high evidence)",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:03:26.085602+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyfip2 has been classified as Green List (High Evidence).",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:03:12.209024+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYFIP2 was added\ngene: CYFIP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYFIP2 were set to 29534297\nPhenotypes for gene: CYFIP2 were set to Epileptic encephalopathy, early infantile, 65, MIM#618008\nReview for gene: CYFIP2 was set to GREEN\nAdded comment: Four unrelated individuals with de novo variants in this gene. All variants affected the same highly conserved residue (arg87) in the DUF1394 domain. \nSources: Literature",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:58:38.595686+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSDE1 as ready",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:58:38.587697+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csde1 has been classified as Green List (High Evidence).",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:58:32.954115+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSDE1 as Green List (high evidence)",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:58:32.945184+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csde1 has been classified as Green List (High Evidence).",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:58:07.286853+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSDE1 was added\ngene: CSDE1 was added to Autism_VCGS. Sources: Literature\nMode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSDE1 were set to 31579823\nPhenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly\nReview for gene: CSDE1 was set to GREEN\nAdded comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly. \nSources: Literature",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:56:31.245046+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSDE1 as ready",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:56:31.237609+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csde1 has been classified as Green List (High Evidence).",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:56:21.237079+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSDE1 as Green List (high evidence)",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:56:21.228251+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csde1 has been classified as Green List (High Evidence).",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:55:39.350709+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSDE1 was added\ngene: CSDE1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSDE1 were set to 31579823\nPhenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly\nReview for gene: CSDE1 was set to GREEN\nAdded comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly. \nSources: Literature",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:52:44.300501+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSDE1 as ready",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:52:44.293038+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csde1 has been classified as Green List (High Evidence).",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:52:37.994151+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSDE1 as Green List (high evidence)",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:52:37.986657+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csde1 has been classified as Green List (High Evidence).",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:52:23.511246+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSDE1 was added\ngene: CSDE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSDE1 were set to 31579823\nPhenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly\nReview for gene: CSDE1 was set to GREEN\nAdded comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly. \nSources: Literature",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:17:02.750992+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1363",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: FAM160B1 was added\ngene: FAM160B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: FAM160B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM160B1 were set to PMID: 31353455; 27431290\nPhenotypes for gene: FAM160B1 were set to no OMIM number yet\nReview for gene: FAM160B1 was set to RED\nAdded comment: 1 patient with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism, and homozygous truncating variant in FAM160B1. No functional studies.\r\n\r\n1 family with 2 sibs with DD, ID, speech issues, and with homozygous missense variant in FAM160B1. No functional studies. \nSources: Literature",
"entity_name": "FAM160B1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:17:02.689676+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1363",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: FAM160B1 was added\ngene: FAM160B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: FAM160B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM160B1 were set to PMID: 31353455; 27431290\nPhenotypes for gene: FAM160B1 were set to no OMIM number yet\nReview for gene: FAM160B1 was set to RED\nAdded comment: 1 patient with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism, and homozygous truncating variant in FAM160B1. No functional studies.\r\n\r\n1 family with 2 sibs with DD, ID, speech issues, and with homozygous missense variant in FAM160B1. No functional studies. \nSources: Literature",
"entity_name": "FAM160B1",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:08:17.491993+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1362",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: FBXL3 as Amber List (moderate evidence)",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:08:17.484726+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1362",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: fbxl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:08:06.443275+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1361",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: FBXL3 was added\ngene: FBXL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXL3 were set to PubMed: 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 AMBER\nAdded comment: 3 unrelated families with 8 affected individuals with ID, DD, short stature and mild facial dysmorphism, and with homozygous mutations in FBXL3. Segregated with the disorder in all 3 families. Functional studies of the variants and studies of patient cells were not performed. \nSources: Literature",
"entity_name": "FBXL3",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:07:33.285074+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTN6 as ready",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:07:33.276993+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn6 has been classified as Red List (Low Evidence).",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:07:19.313467+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNTN6 was added\ngene: CNTN6 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: CNTN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CNTN6 were set to 30836150; 28641109; 29983269\nPhenotypes for gene: CNTN6 were set to Intellectual disability; autism; Tourette syndrome; schizophrenia\nReview for gene: CNTN6 was set to RED\nAdded comment: Conflicting evidence based on CNV data, no SNVs identified. \nSources: Literature",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:05:30.365134+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTN6 as ready",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:05:30.357673+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn6 has been classified as Red List (Low Evidence).",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:05:21.270349+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNTN6 was added\ngene: CNTN6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: CNTN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CNTN6 were set to 30836150; 28641109; 29983269\nPhenotypes for gene: CNTN6 were set to Intellectual disability; autism; Tourette syndrome; schizophrenia\nReview for gene: CNTN6 was set to RED\nAdded comment: Conflicting evidence based on CNV data, no SNVs identified. \nSources: Literature",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:04:01.909938+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1359",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: FRY as Amber List (moderate evidence)",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:04:01.902082+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1359",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: fry has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRY",
"entity_type": "gene"
},
{
"created": "2019-12-12T11:03:52.338897+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1358",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: FRY was added\ngene: FRY was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRY were set to PMID: 31487712; 27457812; 21937992\nPhenotypes for gene: FRY were set to no OMIM number yet\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": "2019-12-12T10:58:28.174862+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CMAS as ready",
"entity_name": "CMAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:58:28.166549+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cmas has been classified as Red List (Low Evidence).",
"entity_name": "CMAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:58:17.037131+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CMAS was added\ngene: CMAS was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: CMAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CMAS were set to 31495922\nPhenotypes for gene: CMAS were set to Intellectual disability\nReview for gene: CMAS was set to RED\nAdded comment: Single family, no functional data. \nSources: Literature",
"entity_name": "CMAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:56:38.181593+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CMAS as ready",
"entity_name": "CMAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:56:38.174132+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cmas has been classified as Red List (Low Evidence).",
"entity_name": "CMAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:56:29.958156+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CMAS was added\ngene: CMAS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: CMAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CMAS were set to 31495922\nPhenotypes for gene: CMAS were set to Intellectual disability\nReview for gene: CMAS was set to RED\nAdded comment: Single family, no functional data. \nSources: Literature",
"entity_name": "CMAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:55:38.083944+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1356",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: GABRA5 as ready",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:55:38.076446+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1356",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: gabra5 has been classified as Green List (High Evidence).",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:55:32.718636+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1356",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: GABRA5 as Green List (high evidence)",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:55:32.711106+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1356",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: gabra5 has been classified as Green List (High Evidence).",
"entity_name": "GABRA5",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:55:20.703412+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1355",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: GABRA5 was added\ngene: GABRA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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 PMID: 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": "2019-12-12T10:53:08.846327+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK8 as ready",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:53:08.838660+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk8 has been classified as Green List (High Evidence).",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:53:00.885874+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK8 as Green List (high evidence)",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:53:00.878587+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk8 has been classified as Green List (High Evidence).",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:52:24.695913+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK8 was added\ngene: CDK8 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK8 were set to 30905399\nPhenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures\nReview for gene: CDK8 was set to GREEN\nAdded comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain. \nSources: Literature",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:51:01.667768+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1354",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: ADGRG6 was added\ngene: ADGRG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADGRG6 were set to PMID: 30549416\nPhenotypes for gene: ADGRG6 were set to Lethal congenital contracture syndrome 9; OMIM #616503\nReview for gene: ADGRG6 was set to RED\nAdded comment: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies. \nSources: Literature",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:50:28.505942+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK8 as ready",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:50:28.498399+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk8 has been classified as Green List (High Evidence).",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:50:18.419637+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK8 as Green List (high evidence)",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:50:18.411995+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk8 has been classified as Green List (High Evidence).",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:50:04.564621+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK8 was added\ngene: CDK8 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK8 were set to 30905399\nPhenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures\nReview for gene: CDK8 was set to GREEN\nAdded comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain. \nSources: Literature",
"entity_name": "CDK8",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:44:07.748307+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1351",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: GRIA2 as ready",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:44:07.740292+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1351",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: gria2 has been classified as Green List (High Evidence).",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:44:03.272107+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1351",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: GRIA2 as Green List (high evidence)",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:44:03.264510+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1351",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: gria2 has been classified as Green List (High Evidence).",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:43:52.715537+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1350",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: GRIA2 was added\ngene: GRIA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIA2 were set to PMID: 31300657\nPhenotypes for gene: GRIA2 were set to no OMIM number yet\nReview for gene: GRIA2 was set to GREEN\nAdded comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. \nSources: Literature",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:40:03.129947+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1349",
"user_name": "chirag patel",
"item_type": "entity",
"text": "changed review comment from: 2 unrelated non-photosensitive TTD families with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance. \nSources: Literature; to: 2 unrelated non-photosensitive TTD families (3 affected) with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance. \r\nSources: Literature",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:39:05.165885+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1349",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: GTF2E2 as Amber List (moderate evidence)",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:39:05.158582+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1349",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:38:54.223101+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1348",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: GTF2E2 was added\ngene: GTF2E2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2E2 were set to PMID: 28973399\nPhenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive; OMIM #616943\nReview for gene: GTF2E2 was set to AMBER\nAdded comment: 2 unrelated non-photosensitive TTD families with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance. \nSources: Literature",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:35:21.650988+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1347",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: KDM3B as ready",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:35:21.643234+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1347",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Green List (High Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:35:15.586375+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1347",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: KDM3B as Green List (high evidence)",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:35:15.578604+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1347",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Green List (High Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:35:03.587406+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1346",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: KDM3B was added\ngene: KDM3B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM3B were set to PMID: 30929739\nPhenotypes for gene: KDM3B were set to no OMIM number yet\nReview for gene: KDM3B was set to GREEN\nAdded comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies. \nSources: Literature",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:31:54.308971+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1345",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: LMAN2L as Amber List (moderate evidence)",
"entity_name": "LMAN2L",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:31:54.301766+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1345",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: lman2l has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMAN2L",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:31:30.590136+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1344",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: LMAN2L was added\ngene: LMAN2L was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LMAN2L were set to PMID: 31020005; 26566883\nPhenotypes for gene: LMAN2L were set to ?Mental retardation, autosomal recessive, 52; OMIM #616887\nReview for gene: LMAN2L was set to AMBER\nAdded comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.\r\n\r\n1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane. \nSources: Literature",
"entity_name": "LMAN2L",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:25:09.144287+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1343",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: LSM1 was added\ngene: LSM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM1 were set to PMID: 31010896\nPhenotypes for gene: LSM1 were set to no OMIM number yet\nReview for gene: LSM1 was set to RED\nAdded comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye. \nSources: Literature",
"entity_name": "LSM1",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:22:56.877339+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1342",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: LSS as ready",
"entity_name": "LSS",
"entity_type": "gene"
}
]
}