HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2043",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2041",
"results": [
{
"created": "2019-12-13T21:25:54.085647+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNRPE were set to ",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-13T21:25:39.772302+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNRPE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-13T21:25:15.968602+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 31671093, 23246290; Phenotypes: Hypotrichosis 11, OMIM #615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-13T21:23:42.527666+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: SNRPE as ready",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-13T21:23:42.524553+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": "Added comment: Comment when marking as ready: Three unrelated families reported with hypotrichosis simplex; only one family reported with ID.",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-13T21:23:42.498642+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: snrpe has been classified as Red List (Low Evidence).",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-13T21:23:07.101019+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": "Publications for gene: SNRPE were set to ",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-13T17:00:35.075624+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAPER as ready",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-12-13T17:00:35.068396+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-12-13T17:00:26.287903+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAPER as Green List (high evidence)",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-12-13T17:00:26.281173+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-12-13T17:00:09.086523+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCAPER was added\ngene: SCAPER was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319\nPhenotypes for gene: SCAPER were set to Intellectual disability; retinitis pigmentosa\nReview for gene: SCAPER was set to GREEN\nAdded comment: 28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene. \nSources: Literature",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:57:08.419138+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAMP5 as ready",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:57:08.412407+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scamp5 has been classified as Green List (High Evidence).",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:57:04.524020+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAMP5 as Green List (high evidence)",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:57:04.516212+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scamp5 has been classified as Green List (High Evidence).",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:56:36.951534+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCAMP5 was added\ngene: SCAMP5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCAMP5 were set to 31439720\nPhenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism\nAdded comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect. \nSources: Literature",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:54:16.996906+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAMP5 as ready",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:54:16.990196+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scamp5 has been classified as Green List (High Evidence).",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:54:05.941876+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAMP5 as Green List (high evidence)",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:54:05.934403+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scamp5 has been classified as Green List (High Evidence).",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:53:46.432020+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCAMP5 was added\ngene: SCAMP5 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCAMP5 were set to 31439720\nPhenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism\nMode of pathogenicity for gene: SCAMP5 was set to Other\nReview for gene: SCAMP5 was set to GREEN\nAdded comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect. \nSources: Literature",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:52:24.175280+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAMP5 as ready",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:52:24.172115+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two unrelated individuals and functional data, upgraded to Green.",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:52:24.147033+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scamp5 has been classified as Green List (High Evidence).",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:52:04.728293+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAMP5 as Green List (high evidence)",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:52:04.720697+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scamp5 has been classified as Green List (High Evidence).",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:49:34.342406+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF113A was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:46:28.755414+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2CA as ready",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:46:28.748329+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2ca has been classified as Green List (High Evidence).",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:46:18.331653+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2CA as Green List (high evidence)",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:46:18.324969+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2ca has been classified as Green List (High Evidence).",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:45:58.112391+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP2CA was added\ngene: PPP2CA was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2CA were set to 30595372\nPhenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354\nReview for gene: PPP2CA was set to GREEN\nAdded comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation. \nSources: Literature",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:40:53.906647+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU3F3 as ready",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:40:53.900045+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou3f3 has been classified as Green List (High Evidence).",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:40:41.879754+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POU3F3 as Green List (high evidence)",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:40:41.873023+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou3f3 has been classified as Green List (High Evidence).",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:40:09.637903+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU3F3 was added\ngene: POU3F3 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POU3F3 were set to 24550763; 31303265\nPhenotypes for gene: POU3F3 were set to Intellectual disability\nReview for gene: POU3F3 was set to GREEN\nAdded comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.\r\n\r\n1 patient reported with whole gene deletion and ID. \nSources: Literature",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:31:59.627592+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PISD as ready",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:31:59.620960+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pisd has been classified as Green List (High Evidence).",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:31:55.705773+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PISD were set to ",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:31:27.270664+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PISD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:30:57.767321+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31263216, 30858161; Phenotypes: Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities, no OMIM number yet.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:29:47.763447+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PISD as ready",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:29:47.755905+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pisd has been classified as Green List (High Evidence).",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:29:38.798294+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:28:24.180387+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PISD: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. 1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:27:53.964025+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PISD were changed from no OMIM number yet. to Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities; no OMIM number yet.",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:27:23.225795+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31263216, 30858161; Phenotypes: Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:23:22.993548+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGU as ready",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:23:22.986640+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigu has been classified as Green List (High Evidence).",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:23:18.333859+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGU as Green List (high evidence)",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:23:18.326890+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigu has been classified as Green List (High Evidence).",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:22:50.184066+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGU was added\ngene: PIGU was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGU were set to 31353022\nPhenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590\nReview for gene: PIGU was set to GREEN\nAdded comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface. \nSources: Literature",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:19:24.719181+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353022; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:17:19.448648+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGB as ready",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:17:19.441497+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigb has been classified as Green List (High Evidence).",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:17:14.814904+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGB as Green List (high evidence)",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:17:14.805205+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigb has been classified as Green List (High Evidence).",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:16:40.157592+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGB was added\ngene: PIGB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGB were set to 31256876\nPhenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580\nReview for gene: PIGB was set to GREEN\nAdded comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects. \nSources: Literature",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:14:30.289878+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGB as ready",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:14:30.283188+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigb has been classified as Green List (High Evidence).",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:14:21.426989+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGB as Green List (high evidence)",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:14:21.420118+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigb has been classified as Green List (High Evidence).",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:14:02.573442+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGB was added\ngene: PIGB was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGB were set to 31256876\nPhenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580\nReview for gene: PIGB was set to GREEN\nAdded comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects. \nSources: Literature",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:11:02.668028+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIBF1 as ready",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:11:02.660711+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:10:52.132808+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIBF1 as Green List (high evidence)",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:10:52.121780+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:10:32.842413+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIBF1 was added\ngene: PIBF1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIBF1 were set to 26167768; 30858804; 29695797\nPhenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767\nReview for gene: PIBF1 was set to GREEN\nAdded comment: Three unrelated families plus three Hutterite families reported with bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:06:57.937782+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHF21A as ready",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:06:57.930763+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf21a has been classified as Green List (High Evidence).",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:06:47.195152+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHF21A as Green List (high evidence)",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:06:47.188521+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf21a has been classified as Green List (High Evidence).",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-13T16:06:28.000490+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF21A was added\ngene: PHF21A was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHF21A were set to 31649809; 30487643; 22770980\nPhenotypes for gene: PHF21A were set to Intellectual disability; dysmorphic features\nReview for gene: PHF21A was set to GREEN\nAdded comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.\r\n\r\n2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation. \nSources: Literature",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:58:38.751239+11:00",
"panel_name": "Arrhythmia_SuperPanel_VCGS",
"panel_id": 254,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Arrhythmia_SuperPanel_VCGS\nSet child panels to: Brugada syndrome_VCGS; Ventricular fibrillation_VCGS; Atrial fibrilation_VCGS; Sick sinus syndrome_VCGS; Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS; Short QT syndrome_VCGS; Long QT syndrome_VCGS\nSet panel types to: Superpanel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-13T15:54:57.815972+11:00",
"panel_name": "Hypertrophic cardiomyopathy_VCGS",
"panel_id": 111,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QBP as ready",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:54:57.808494+11:00",
"panel_name": "Hypertrophic cardiomyopathy_VCGS",
"panel_id": 111,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Green List (High Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:54:54.783049+11:00",
"panel_name": "Hypertrophic cardiomyopathy_VCGS",
"panel_id": 111,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1QBP as Green List (high evidence)",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:54:54.775368+11:00",
"panel_name": "Hypertrophic cardiomyopathy_VCGS",
"panel_id": 111,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Green List (High Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:54:25.074805+11:00",
"panel_name": "Hypertrophic cardiomyopathy_VCGS",
"panel_id": 111,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C1QBP was added\ngene: C1QBP was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert list\nMode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1QBP were set to 28942965\nPhenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713\nReview for gene: C1QBP was set to GREEN\nAdded comment: Four unrelated families reported; hypertrophic cardiomyopathy is a feature of the condition. \nSources: Expert list",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:49:45.310962+11:00",
"panel_name": "Cardiomyopathy_SuperPanel_VCGS",
"panel_id": 253,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Cardiomyopathy_SuperPanel_VCGS\nSet child panels to: Left ventricular non-compaction cardiomyopathy_VCGS; Dilated cardiomyopathy_VCGS; Hypertrophic cardiomyopathy_VCGS; Arrhythmogenic right ventricular cardiomyopathy_VCGS\nSet panel types to: Superpanel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-13T15:41:54.964948+11:00",
"panel_name": "Nephrotic Syndrome_VCGS",
"panel_id": 144,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA5 as ready",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:41:54.957704+11:00",
"panel_name": "Nephrotic Syndrome_VCGS",
"panel_id": 144,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama5 has been classified as Green List (High Evidence).",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:41:52.571896+11:00",
"panel_name": "Nephrotic Syndrome_VCGS",
"panel_id": 144,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA5 were changed from to Nephrotic syndrome",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:41:09.738566+11:00",
"panel_name": "Nephrotic Syndrome_VCGS",
"panel_id": 144,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA5 were set to ",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:40:49.238920+11:00",
"panel_name": "Nephrotic Syndrome_VCGS",
"panel_id": 144,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-12-13T15:39:41.696536+11:00",
"panel_name": "Nephrotic Syndrome_VCGS",
"panel_id": 144,
"panel_version": "0.0",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211; Phenotypes: Nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:41:52.815967+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.302",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: POLR2A as ready",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:41:52.809225+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.302",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: polr2a has been classified as Green List (High Evidence).",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:41:44.317131+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.302",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: POLR2A as Green List (high evidence)",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:41:44.309876+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.302",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: polr2a has been classified as Green List (High Evidence).",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:41:27.337560+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.301",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: POLR2A was added\ngene: POLR2A was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR2A were set to 31353023\nPhenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#\t618603\nMode of pathogenicity for gene: POLR2A was set to Other\nReview for gene: POLR2A was set to GREEN\nAdded comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype. \nSources: Literature",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:37:52.718506+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1393",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: POLR2A as ready",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:37:52.711641+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1393",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: polr2a has been classified as Green List (High Evidence).",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:37:43.607930+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1393",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: POLR2A as Green List (high evidence)",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:37:43.600854+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1393",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: polr2a has been classified as Green List (High Evidence).",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T13:37:15.556850+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1392",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: POLR2A was added\ngene: POLR2A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR2A were set to 31353023\nPhenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#\t618603\nMode of pathogenicity for gene: POLR2A was set to Other\nReview for gene: POLR2A was set to GREEN\nAdded comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype. \nSources: Literature",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2019-12-13T10:22:43.358281+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI1 as ready",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2019-12-13T10:22:43.350175+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai1 has been classified as Green List (High Evidence).",
"entity_name": "GNAI1",
"entity_type": "gene"
}
]
}