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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1234",
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"results": [
{
"created": "2021-08-18T14:21:49.273124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1 were changed from to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:21:30.529127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1 were set to ",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:21:11.633588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:20:52.006858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8857020, 15769976, 14684690, 31539878, 28768959, 34125705, 22832530; Phenotypes: Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:20:23.525210+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1 were set to 8857020; 15769976; 14684690; 31539878; 28768959; 34125705; 22832530",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:19:39.049204+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1 as ready",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:19:39.035776+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:19:36.997113+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1 were changed from Insulin-Like Growth Factor I Deficiency; Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; IGF1 to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:19:23.341920+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1 were set to ",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:18:28.826431+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:17:25.293839+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF2 as ready",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:17:25.284705+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf2 has been classified as Green List (High Evidence).",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:17:22.596162+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF2 were changed from Affected tissue: all; Phenotypes resulting from gene over expression: Beckwith-Wiedemann Syndrome (proven effects of dosage alteration rather than gene muation). Phenotype resulting from under expression: Silver-Russell Syndrome to Affected tissue: all; Phenotypes resulting from gene over expression: Beckwith-Wiedemann Syndrome (proven effects of dosage alteration rather than gene muation). Phenotype resulting from under expression: Silver-Russell syndrome 3, MIM #616489",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:16:49.456894+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF2 were set to http://igc.otago.ac.nz/home.html; PMID: 26154720; 30794780",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:16:33.183722+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26154720, 31544945; Phenotypes: Silver-Russell syndrome 3, MIM #616489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:15:17.056162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:14:47.322385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: RSS phenotype.; to: Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay. Disruption of any gene in the HMGA2-PLAG1-IGF2 pathway results in a decrease in IGF2 expression and produces an SRS phenotype similar to that of patients carrying 11p15.5 epigenetic defects.\r\n\r\nBegemann et al. (2015) performed exome sequencing in 4 affected people with severe growth restriction in one family, and identified a heterozygous nonsense mutation in the IGF2 gene that segregated fully with the disorder. Affected individuals inherited the mutation from their healthy fathers, and it originated from the healthy paternal grandmother. Clinical features occurred only in those who inherited the variant allele through paternal transmission, consistent with maternal imprinting of IGF2.\r\n\r\nMany other cases reported since with de novo mutations in IGF2 present on the paternal allele.",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:14:25.272277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IGF2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:33:27.134398+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF2 as ready",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:33:27.123687+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf2 has been classified as Green List (High Evidence).",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:33:25.117474+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF2 were changed from Pre- and post-natal growth failure; SRS; ?Growth restriction, severe, with distinctive facies, 616489; Silver-Russell phenptype; IUGR to Silver-Russell syndrome 3, MIM #616489",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:33:11.018067+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF2 were set to 26154720",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:29:33.535408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OBSL1 as ready",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:29:33.526095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: obsl1 has been classified as Green List (High Evidence).",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:29:26.538062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OBSL1 were changed from to 3-M syndrome 2, MIM #612921",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:29:03.973667+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OBSL1 were set to ",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:28:44.068815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OBSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:28:19.742475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2, MIM #612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:26:42.207848+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OBSL1 as ready",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:26:42.197302+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: obsl1 has been classified as Green List (High Evidence).",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:26:39.313279+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OBSL1 were changed from 3M; 3-M syndrome 2, 612921 to 3-M syndrome 2, MIM #612921",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:26:26.943493+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OBSL1 were set to 21737058",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:25:17.314596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:25:17.304377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:25:08.891538+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM # 269880; Immunodeficiency 36, MIM#616005",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:24:41.983167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3R1 were set to ",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:21:07.302097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T13:20:44.376873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23810378, 23810379, 23810382; Phenotypes: SHORT syndrome, MIM # 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:45:17.596380+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:45:17.584872+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:45:15.486393+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from SHORT syndrome, 269880; SHORT to SHORT syndrome, OMIM # 269880",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:45:06.178191+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3R1 were set to ",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:44:09.974083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLAG1 were set to 28796236; 29913240",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:43:47.938986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLAG1 as Green List (high evidence)",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:43:47.927150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plag1 has been classified as Green List (High Evidence).",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:43:31.457505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLAG1: Added comment: Additional families reported, upgrade to Green.\r\n\r\nSilver-Russell syndrome-4 (SRS4) is characterised by intrauterine growth retardation followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face and prominent forehead, and relative macrocephaly at birth may be observed. So far 4 families have been reported with some functional studies of the role of the gene in the growth pathway.\r\n\r\nAbi Habib et al. (2018) reported 1 family (child, sister and mother) patient with Silver-Russell syndrome (with normal methylation on chromosomes 7, 11, and 14, and exclusion of maternal UPD and chromosomal rearrangements). Using WES they identified a heterozygous 1-bp deletion in the PLAG1 gene. The variant segregated with disease, and was not present in polymorphism databases or ExAC. They also reported another patient with a different heterozygous 1-bp deletion in the PLAG1 gene. This was not found in her unaffected twin brother, older brother, or parents. Experiments in Hep3b cells demonstrated that PLAG1 positively regulates expression of the IGF2 promoter P3, independently and via the HMGA2-PLAG1-IGF2 pathway. Disruption of any gene in the pathway results in a decrease in IGF2 expression and produces an SRS phenotype similar to that of patients carrying 11p15.5 epigenetic defects (SRS1; 180860), except for body asymmetry, which is not expected to occur since the molecular defects are present in all cells of the body, unlike the mosaic epigenetic changes at the 11p15.5 locus.\r\n\r\nInoue et al. (2020) reported 1 family with 2 affected people with Silver-Russell syndrome with a nonsense variant in the PLAG1 gene, which segregated with disease.\r\n\r\nVado et al. (2020) reported 1 family with multiple affected people with Silver-Russell syndrome with a frameshift variant in the PLAG1 gene, which segregated with disease.; Changed rating: GREEN; Changed publications: 28796236, 29913240, 33291420, 32546215",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:42:17.577517+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLAG1 as ready",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:42:17.563648+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plag1 has been classified as Green List (High Evidence).",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:42:15.361660+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLAG1 were changed from SRS; Silver-Russell syndrome to Silver-Russell syndrome 4, MIM # 618907",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:42:02.926255+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLAG1 were set to 28796236",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:00:03.300173+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRCAP as ready",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-08-18T11:00:03.290338+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srcap has been classified as Green List (High Evidence).",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-08-18T10:59:57.457668+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome, 136140; Floating Harbor to Floating-Harbor syndrome, OMIM # 136140",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-08-18T10:59:47.486184+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRCAP were set to ",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-08-18T09:32:41.175519+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14657428, 22130793, 23045302, 26252249, 17264177, 31586944; Phenotypes: Insulin-like growth factor I, resistance to, OMIM # 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2021-08-18T09:25:14.752547+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8857020, 15769976, 14684690, 31539878, 28768959, 34125705, 22832530; Phenotypes: Growth retardation with deafness and mental retardation due to IGF1 deficiency, OMIM # 608747; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T09:06:42.468582+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26154720, 31544945; Phenotypes: Silver-Russell syndrome 3, OMIM #616489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-18T08:58:20.339801+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2, OMIM #612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-08-18T08:51:37.402844+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23810378, 23810379, 23810382; Phenotypes: SHORT syndrome, OMIM # 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-08-18T08:43:38.620615+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28796236, 33291420, 32546215; Phenotypes: Silver-Russell syndrome 4,OMIM # 618907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-08-18T08:31:21.162233+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22265015, 22965468, 22965468; Phenotypes: Floating-Harbor syndrome, OMIM # 136140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-08-17T19:52:40.906779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACRG as ready",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2021-08-17T19:52:40.897181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacrg has been classified as Red List (Low Evidence).",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2021-08-17T19:52:32.260899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACRG were set to ",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2021-08-17T19:52:07.044816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PACRG as Red List (low evidence)",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2021-08-17T19:52:07.035168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacrg has been classified as Red List (Low Evidence).",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2021-08-17T19:51:45.373296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PACRG: Rating: RED; Mode of pathogenicity: None; Publications: 31116684, 31182890, 14737177, 27193298; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:26:25.919884+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB24 as ready",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:26:25.910005+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:26:22.254459+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZBTB24 were set to 21596365; 21906047; 27626380 32061411",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:25:51.968491+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB24 were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069; Facial dysmorphic features; developmental delay; macroglossia; bacterial/opportunistic infections; malabsorption; cytopaenia; malignancies; multiradial configurations of chromosomes 1, 9, 16; Hypogammaglobulinaemia or agammaglobulinaemia; variable antibody deficiency",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:24:37.475260+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZBTB24 were set to ",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:24:07.018422+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZBTB24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:23:10.370797+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WIPF1 as ready",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:23:10.359015+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wipf1 has been classified as Green List (High Evidence).",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:23:07.173822+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WIPF1 were changed from to Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:22:37.664801+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WIPF1 were set to ",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:22:12.767158+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:21:41.379193+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22231303, 27742395, 11869681, 14757742; Phenotypes: Wiskott-Aldrich syndrome 2 MIM# 614493, Reduced T cells, defective lymphocyte responses to anti-CD3, high IgE, Thrombocytopenia with or without small platelets, recurrent bacterial and viral Infections, eczema, bloody diarrhoea, gastrointestinal bleeding, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:18:56.271226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WIPF1 as ready",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:18:56.261803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wipf1 has been classified as Green List (High Evidence).",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:18:49.155831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WIPF1 were changed from to Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:18:29.910366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WIPF1 were set to ",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:18:03.076084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:17:16.168512+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:17:16.158027+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:16:59.626414+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCN2 were changed from to Transcobalamin II deficiency, 275350",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:16:27.824324+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCN2 were set to ",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:15:33.367545+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:14:59.374163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\n26 pathogenic TCN2 variants have been reported in over 40 individuals; multiple mouse models\r\n\r\nHomologous and Compound Heterozygous TCN2 variants (deletions or insertions, nonsense mutations, and point mutations) have been reported; deletions or insertions are the most common, causing frameshifts that result in protein truncation.\r\n\r\nIndividuals usually present within the first year of life with failure to thrive, diarrhoea, anaemia, pallor and agammaglobulinaemia.\r\nSources: Expert list; to: Well established gene-disease association.\r\n\r\n26 pathogenic TCN2 variants have been reported in over 40 individuals; multiple mouse models\r\n\r\nHomozygous and Compound Heterozygous TCN2 variants (deletions or insertions, nonsense mutations, and point mutations) have been reported; deletions or insertions are the most common, causing frameshifts that result in protein truncation.\r\n\r\nIndividuals usually present within the first year of life with failure to thrive, diarrhoea, anaemia, pallor and agammaglobulinaemia.\r\nSources: Expert list",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:14:47.486094+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19373259, 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency, 275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:13:37.784474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:13:37.763631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:13:29.295182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCN2 were set to 19373259",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:13:09.484887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCN2: Changed publications: 19373259, 32841161, 33023511, 30124850",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:12:50.238812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. \nSources: Expert list; to: Well established gene-disease association.\r\n\r\n26 pathogenic TCN2 variants have been reported in over 40 individuals; multiple mouse models\r\n\r\nHomologous and Compound Heterozygous TCN2 variants (deletions or insertions, nonsense mutations, and point mutations) have been reported; deletions or insertions are the most common, causing frameshifts that result in protein truncation.\r\n\r\nIndividuals usually present within the first year of life with failure to thrive, diarrhoea, anaemia, pallor and agammaglobulinaemia.\r\nSources: Expert list",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:12:32.439274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCN2 were changed from to Transcobalamin II deficiency, 275350",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:12:04.491908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCN2 were set to ",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:09:34.711016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-08-17T18:06:43.575755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAP2 as ready",
"entity_name": "TAP2",
"entity_type": "gene"
}
]
}