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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1132",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1130",
"results": [
{
"created": "2021-11-12T10:10:37.995999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDON were changed from to Holoprosencephaly 11, MIM# 614226; MONDO:0013642",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:10:15.779642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDON were set to ",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:09:54.308952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:09:35.381068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.; to: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.\r\n\r\nNote single report of bi-allelic variants in association with coloboma: PMID 32729136",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:08:44.484661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:07:49.731425+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDON as ready",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:07:49.720840+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdon has been classified as Green List (High Evidence).",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:07:46.459758+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDON were changed from HOLOPROSENCEPHALY 11 to Holoprosencephaly 11, MIM# 614226; MONDO:0013642",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:07:35.040108+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDON were set to ",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:07:17.319827+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:05:39.235759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1C as ready",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:05:39.208724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Green List (High Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:05:35.381632+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1C were changed from IMAGe Syndrome; BECKWITH-WIEDEMANN SYNDROME to Beckwith-Wiedemann syndrome, MIM# 130650; IMAGe syndrome, MIM# 614732; Silver-Russell syndrome",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:05:20.419554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKN1C were set to ",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:05:04.488438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:05:00.606361+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDKN1C: Added comment: LoF variants in this gene cause overgrowth and BWS.\r\n\r\nIMAGe syndrome: reported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved \"hot-spot\" within the PCNA-binding domain of CDKN1C between codons 272-279. Note 3 families reported with RSS phenotype without other IMAGE features, all with missense changes at amino acid positions 279 and 281.\r\n\r\nCan present antenatally with macrosomia/IUGR respectively.; Changed rating: GREEN; Changed publications: 10424811, 8841187, 22205991, 20503313, 19843502, 15372379, 23511928, 30794780, 33076988, 31976094, 31497289; Changed phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650, IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:03:05.649592+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKL5 as ready",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:03:05.639399+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl5 has been classified as Green List (High Evidence).",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:02:58.313475+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKL5 were changed from to Developmental and epileptic encephalopathy 2, MIM# 300672",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:02:21.868425+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKL5 were set to ",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:01:53.397755+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:01:23.214853+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 2, MIM# 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:00:36.180617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKL5 as ready",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:00:36.169440+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl5 has been classified as Green List (High Evidence).",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:00:32.646782+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKL5 were changed from to Developmental and epileptic encephalopathy 2, MIM# 300672",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T10:00:05.110720+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKL5 were set to ",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:59:31.543830+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:58:55.725125+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 2, MIM# 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:57:52.868518+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKL5 as ready",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:57:52.857685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl5 has been classified as Green List (High Evidence).",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:57:46.294562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKL5 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 to Developmental and epileptic encephalopathy 2, MIM# 300672",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:57:34.957273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKL5 were set to 19793311",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:57:34.541696+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKL5 were set to ",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:57:20.672562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 2, MIM# 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:55:00.725930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:54:18.888845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:54:09.275251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK13 as ready",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:54:09.259076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:54:04.141861+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK13 were changed from Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:53:52.455096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK13 were set to ",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:53:00.867605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH3 as ready",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:53:00.856488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh3 has been classified as Green List (High Evidence).",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:52:52.234312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH3 were changed from to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:52:11.456592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH3 were set to ",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:51:51.080554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:51:32.045347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:50:25.798810+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH3 as ready",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:50:25.788440+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh3 has been classified as Green List (High Evidence).",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:50:22.030122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH3 were changed from EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:50:09.535735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH3 were set to ",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:49:52.668680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805154, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:29:25.958106+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH1 as ready",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:29:25.947917+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh1 has been classified as Green List (High Evidence).",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:29:23.644065+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH1 were changed from Blepharocheilodontic syndrome 1; BLEPHAROCHEILODONTIC to Blepharocheilodontic syndrome 1, MIM# 119580",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:29:14.248489+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH1 were set to 27566442; 28301459",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:29:05.694656+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:28:53.861134+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 1, MIM# 119580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:27:50.616845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH1 as ready",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:27:50.605792+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh1 has been classified as Green List (High Evidence).",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:27:46.562965+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 1, MIM# 119580",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:27:34.241913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH1 were set to ",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:27:22.575201+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:27:09.890630+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 1, MIM# 119580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:24:58.952110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC6 as ready",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:24:58.943389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:24:54.419933+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5 (MIM#613805)",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:24:41.789525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDC6 were set to ",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:24:29.901525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDC6 as Red List (low evidence)",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:24:29.879876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:23:42.900107+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC45 as ready",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:23:42.890380+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc45 has been classified as Green List (High Evidence).",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:23:38.681269+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDC45 as Green List (high evidence)",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:23:38.664068+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc45 has been classified as Green List (High Evidence).",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:23:29.977903+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC45 was added\ngene: CDC45 was added to Growth failure. Sources: Expert Review\nMode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC45 were set to 31474763; 27374770\nPhenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, MIM 617063\nReview for gene: CDC45 was set to GREEN\nAdded comment: More than 10 families reported, short stature is a defining feature. \nSources: Expert Review",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:21:35.255341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC45 as ready",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:21:35.239435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc45 has been classified as Green List (High Evidence).",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:21:31.644474+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC45 were changed from Meier-Gorlin Syndrome and Craniosynostosis to Meier-Gorlin syndrome 7, MIM 617063",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:21:17.972721+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDC45 were set to ",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:21:03.644379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 31474763, 27374770; Phenotypes: Meier-Gorlin syndrome 7, MIM 617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:14:49.270808+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: EFHC1.",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-11-12T09:14:23.502243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: EFHC1.",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:23:12.528650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: CPA6.\nTag disputed tag was added to gene: CPA6.",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:22:40.553536+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: CPA6.\nTag disputed tag was added to gene: CPA6.",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:21:41.296498+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN9A were set to 19763161; 29500686; 30834459; 23895530",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:20:25.074754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MICAL1 as ready",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:20:25.063323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mical1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:19:42.732414+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNC were set to 31924696",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:19:11.047461+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNC as Green List (high evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:19:11.038249+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:16:55.830883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:16:29.710645+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR3 as ready",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2021-11-11T20:16:29.701574+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:58:41.007169+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1389",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC46A1 as ready",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:58:40.996947+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1389",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc46a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:57:54.153658+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1389",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC46A1 as Green List (high evidence)",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:57:54.143092+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1389",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc46a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:49:24.618655+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1388",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RYR3 as Amber List (moderate evidence)",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:49:24.608177+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1388",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:48:37.505373+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1387",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RYR3 was added\ngene: RYR3 was added to Genetic Epilepsy. Sources: ClinGen\nMode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RYR3 were set to 25262651\nPhenotypes for gene: RYR3 were set to undetermined early-onset epileptic encephalopathy (MONDO:0018614)\nReview for gene: RYR3 was set to AMBER\nAdded comment: 2 probands with different de novo missense variants in a single publication. Classified as Limited by ClinGen Epilepsy GCEP - Classification - 06/19/2018. \nSources: ClinGen",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:36:35.824125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9704",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EFHC1 as Red List (low evidence)",
"entity_name": "EFHC1",
"entity_type": "gene"
}
]
}