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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2042",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2040",
"results": [
{
"created": "2019-12-14T20:49:16.959931+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEGS1 as ready",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2019-12-14T20:49:16.952506+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2019-12-14T20:49:06.485409+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DEGS1 as Green List (high evidence)",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2019-12-14T20:49:06.478141+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2019-12-14T20:48:41.794061+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DEGS1 was added\ngene: DEGS1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DEGS1 were set to 30620338; 30620337\nPhenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18, MIM#618404\nReview for gene: DEGS1 was set to GREEN\nAdded comment: 20 individuals from 14 unrelated families. \nSources: Literature",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2019-12-14T20:41:46.445684+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF1 as ready",
"entity_name": "ARHGEF1",
"entity_type": "gene"
},
{
"created": "2019-12-14T20:41:46.438678+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef1 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGEF1",
"entity_type": "gene"
},
{
"created": "2019-12-14T20:41:37.081161+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGEF1 was added\ngene: ARHGEF1 was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGEF1 were set to 30521495\nPhenotypes for gene: ARHGEF1 were set to Immunodeficiency 62, MIM#618459\nReview for gene: ARHGEF1 was set to RED\nAdded comment: Single family, functional data. \nSources: Literature",
"entity_name": "ARHGEF1",
"entity_type": "gene"
},
{
"created": "2019-12-14T19:56:19.482176+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLD2 as ready",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2019-12-14T19:56:19.475134+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold2 has been classified as Red List (Low Evidence).",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2019-12-14T19:56:03.845851+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLD2 was added\ngene: POLD2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLD2 were set to 31449058\nPhenotypes for gene: POLD2 were set to Intellectual disability; immunodeficiency\nReview for gene: POLD2 was set to RED\nAdded comment: Single family, functional data. \nSources: Literature",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2019-12-14T19:53:24.288649+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLD2 as ready",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2019-12-14T19:53:24.281954+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold2 has been classified as Red List (Low Evidence).",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2019-12-14T19:53:07.632088+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLD2 was added\ngene: POLD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLD2 were set to 31449058\nPhenotypes for gene: POLD2 were set to Intellectual disability; immunodeficiency\nReview for gene: POLD2 was set to RED\nAdded comment: Single family, functional data. \nSources: Literature",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2019-12-14T19:51:46.328412+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLD1 as ready",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2019-12-14T19:51:46.321444+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold1 has been classified as Red List (Low Evidence).",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2019-12-14T19:51:36.911675+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLD1 was added\ngene: POLD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLD1 were set to 31449058\nPhenotypes for gene: POLD1 were set to Intellectual disability; immunodeficiency\nReview for gene: POLD1 was set to RED\nAdded comment: Single family reported with biallelic variants in this gene. Note heterozygous variants cause a different condition: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381 \nSources: Literature",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2019-12-14T17:07:18.676338+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOCD as ready",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2019-12-14T17:07:18.669203+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myocd has been classified as Green List (High Evidence).",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2019-12-14T17:06:54.628914+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYOCD as Green List (high evidence)",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2019-12-14T17:06:54.620089+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myocd has been classified as Green List (High Evidence).",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2019-12-14T17:06:27.509036+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOCD was added\ngene: MYOCD was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature\nMode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYOCD were set to 31513549\nPhenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy\nReview for gene: MYOCD was set to GREEN\nAdded comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease). \nSources: Literature",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:05:43.819983+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF292 as ready",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:05:43.812559+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf292 has been classified as Green List (High Evidence).",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:05:29.482452+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF292 as Green List (high evidence)",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:05:29.475346+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf292 has been classified as Green List (High Evidence).",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:05:10.090552+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF292 was added\ngene: ZNF292 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF292 were set to 31723249\nPhenotypes for gene: ZNF292 were set to Intellectual disability; Autism; ADHD\nReview for gene: ZNF292 was set to GREEN\nAdded comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain. \nSources: Literature",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:02:24.696211+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF292 as ready",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:02:24.684599+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf292 has been classified as Green List (High Evidence).",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:02:19.866706+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: no OMIM number yet",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:02:19.844976+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF292 were changed from no OMIM number yet to Intellectual disability; autism; ADHD",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:01:02.094549+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMIZ1 as ready",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:01:02.090923+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Please note transcription error in review relating to another gene, ZNF292. 19 families reported with heterozygous variants in this gene and a neurodevelopmental phenotype.",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2019-12-14T14:01:02.062180+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmiz1 has been classified as Green List (High Evidence).",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:59:45.444629+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMIZ1 as ready",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:59:45.437459+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmiz1 has been classified as Green List (High Evidence).",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:59:37.211666+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZMIZ1 as Green List (high evidence)",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:59:37.203585+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmiz1 has been classified as Green List (High Evidence).",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:59:14.795255+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZMIZ1 was added\ngene: ZMIZ1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZMIZ1 were set to 30639322\nPhenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659\nReview for gene: ZMIZ1 was set to GREEN\nAdded comment: 19 unrelated individuals with heterozygous variants in this gene reported. \nSources: Literature",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:51:36.544351+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAMP2 as ready",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:51:36.537352+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp2 has been classified as Green List (High Evidence).",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:51:25.981891+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VAMP2 as Green List (high evidence)",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:51:25.974495+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp2 has been classified as Green List (High Evidence).",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:51:04.676704+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAMP2 was added\ngene: VAMP2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VAMP2 were set to 30929742\nPhenotypes for gene: VAMP2 were set to Intellectual disability; Autism\nReview for gene: VAMP2 was set to GREEN\nAdded comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. \nSources: Literature",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:47:08.548513+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAMP2 as ready",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:47:08.541305+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp2 has been classified as Green List (High Evidence).",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:47:02.971151+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VAMP2 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:45:54.823269+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB as ready",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:45:54.812548+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb has been classified as Green List (High Evidence).",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:45:50.138435+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM#615771",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:45:38.548090+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB were set to ",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:45:29.765656+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:45:13.558210+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM#615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:34:29.697701+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TENM3 as ready",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:34:29.694507+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Intellectual disability is part of the phenotype.",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:34:29.674954+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tenm3 has been classified as Green List (High Evidence).",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:33:10.722879+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TENM3 as Green List (high evidence)",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:33:10.715715+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tenm3 has been classified as Green List (High Evidence).",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:32:54.216629+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TENM3 was added\ngene: TENM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094\nPhenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma\nReview for gene: TENM3 was set to GREEN\nAdded comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:29:47.010007+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TENM3 as ready",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:29:47.002501+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tenm3 has been classified as Green List (High Evidence).",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:29:38.615066+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TENM3 were changed from to Microphthalmia, syndromic 15, MIM#615145; coloboma",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:29:21.968893+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TENM3 were set to ",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:29:00.284436+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TENM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:28:40.571480+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30513139, 22766609, 27103084, 29753094; Phenotypes: Microphthalmia, syndromic 15, MIM#615145, coloboma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:27:09.358581+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TENM3 as ready",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:27:09.351241+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tenm3 has been classified as Green List (High Evidence).",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:27:05.621639+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TENM3 as Green List (high evidence)",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:27:05.613373+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tenm3 has been classified as Green List (High Evidence).",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:26:36.278246+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TENM3 was added\ngene: TENM3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Literature\nMode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094\nPhenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma\nReview for gene: TENM3 was set to GREEN\nAdded comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:15:14.961195+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TARS as ready",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:15:14.954033+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tars has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:15:04.279540+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TARS as Amber List (moderate evidence)",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:15:04.272501+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tars has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:14:41.083208+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TARS was added\ngene: TARS was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TARS were set to 31374204\nPhenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546\nReview for gene: TARS was set to AMBER\nAdded comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.\r\n\r\n2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function. \nSources: Literature",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:11:25.204157+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TARS as ready",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:11:25.195539+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tars has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:09:47.036407+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TANC2 as ready",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:09:47.028137+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tanc2 has been classified as Green List (High Evidence).",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:09:36.638597+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TANC2 as Green List (high evidence)",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:09:36.630606+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tanc2 has been classified as Green List (High Evidence).",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2019-12-14T13:09:17.544205+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TANC2 was added\ngene: TANC2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TANC2 were set to 31616000\nPhenotypes for gene: TANC2 were set to Intellectual disability; autism; epilepsy; dysmorphism\nReview for gene: TANC2 was set to GREEN\nAdded comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes. \nSources: Literature",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:21:36.623321+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SVBP as ready",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:21:36.616153+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svbp has been classified as Green List (High Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:21:31.542003+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SVBP as Green List (high evidence)",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:21:31.534316+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svbp has been classified as Green List (High Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:21:04.846064+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SVBP was added\ngene: SVBP was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SVBP were set to 31363758; 30607023\nPhenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569\nReview for gene: SVBP was set to GREEN\nAdded comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \nSources: Literature",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:16:26.814982+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SVBP as ready",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:16:26.807242+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svbp has been classified as Green List (High Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:16:16.455866+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SVBP as Green List (high evidence)",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:16:16.448615+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svbp has been classified as Green List (High Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:15:57.148544+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SVBP was added\ngene: SVBP was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SVBP were set to 31363758; 30607023\nPhenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569\nReview for gene: SVBP was set to GREEN\nAdded comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \nSources: Literature",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:12:34.493905+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX4 as ready",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:12:34.486669+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox4 has been classified as Green List (High Evidence).",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:12:25.388271+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX4 as Green List (high evidence)",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:12:25.380708+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox4 has been classified as Green List (High Evidence).",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2019-12-14T09:12:02.761827+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX4 was added\ngene: SOX4 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX4 were set to 30661772\nPhenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506\nReview for gene: SOX4 was set to GREEN\nAdded comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells. \nSources: Literature",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2019-12-13T21:26:18.759422+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNRPE as ready",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-13T21:26:18.752244+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snrpe has been classified as Green List (High Evidence).",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-13T21:26:10.323506+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNRPE were changed from to Hypotrichosis 11; OMIM #615059",
"entity_name": "SNRPE",
"entity_type": "gene"
}
]
}