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{
"count": 220380,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1292",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1290",
"results": [
{
"created": "2021-06-18T19:31:07.146532+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2021-06-18T19:30:31.562900+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2021-06-18T19:30:04.753240+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2021-06-18T19:29:38.353737+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2021-06-18T19:23:03.332038+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBDS as ready",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-06-18T19:23:03.322167+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Green List (High Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-06-18T19:22:58.562507+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-06-18T19:22:27.583107+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-06-18T19:21:52.642854+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:41:29.078372+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTEL1 as ready",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:41:29.067037+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtel1 has been classified as Green List (High Evidence).",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:40:11.483593+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTEL1 were changed from to Dyskeratosis congenita, MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:39:43.191838+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTEL1 were set to ",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:39:19.833359+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTEL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:38:48.076290+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453664, 23329068, 25848748, 25607374, 15210109; Phenotypes: Dyskeratosis congenita, MIM# 615190, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:27:19.042634+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS10 as ready",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:27:19.032003+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps10 has been classified as Green List (High Evidence).",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:27:12.391382+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anaemia 9, MIM# 613308",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:26:41.372035+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS10 were set to ",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:26:11.377796+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:24:57.647181+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL5 as ready",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:24:57.635868+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl5 has been classified as Green List (High Evidence).",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:24:54.436317+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL5 were changed from to Diamond-Blackfan anaemia 6, MIM# 612561; MONDO:0012937",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:24:27.483477+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL5 were set to ",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:24:04.738942+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:21:20.633165+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:21:20.622030+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:21:17.870612+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RMRP were changed from to Cartilage-hair hypoplasia, MIM# 250250",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:20:53.837496+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:20:26.849830+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cartilage-hair hypoplasia, MIM# 250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:15:09.519839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EP300 as ready",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:15:09.505775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:15:00.203544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EP300 were changed from to Rubinstein-Taybi syndrome 2 MIM#613684; Menke-Hennekam syndrome 2 MIM#618333",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:14:46.088355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EP300 were set to ",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-06-18T18:14:24.208671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EP300 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-06-18T14:48:41.740578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8065",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29460469, 24381114; Phenotypes: Rubinstein-Taybi syndrome 2 MIM#613684, Menke-Hennekam syndrome 2 MIM#618333, Colorectal cancer, somatic MIM#114500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:28:16.970940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PARN as ready",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:28:16.959861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parn has been classified as Green List (High Evidence).",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:28:09.555586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:27:56.321516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PARN were set to ",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:27:32.904822+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PARN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:27:13.344166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:27:03.604785+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PARN as ready",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:27:03.595894+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parn has been classified as Green List (High Evidence).",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:26:54.025359+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:26:35.368099+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PARN were set to ",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:26:06.568143+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PARN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:25:22.588698+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:02:44.343084+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PALB2 as ready",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:02:44.332777+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: palb2 has been classified as Green List (High Evidence).",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-06-18T09:02:41.753756+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PALB2 were changed from to Fanconi anaemia, complementation group N, MIM# 610832",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:57:04.825294+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:23:37.047228+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF1 as ready",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:23:37.028267+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf1 has been classified as Green List (High Evidence).",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:23:32.813184+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from Anemia, dyserythropoietic congenital, type IV to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:23:19.823956+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to ",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:23:07.146651+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLF1 as Green List (high evidence)",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:23:07.138075+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf1 has been classified as Green List (High Evidence).",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:22:55.130312+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:22:14.107028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF1 as ready",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:22:14.095635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf1 has been classified as Green List (High Evidence).",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:22:05.553696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:21:44.482199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to ",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:21:24.657487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:21:07.114426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:21:03.381743+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:20:19.534467+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to ",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:19:48.525060+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T08:19:24.123747+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:45:02.467848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAG17 as ready",
"entity_name": "SPAG17",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:45:02.446940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag17 has been classified as Red List (Low Evidence).",
"entity_name": "SPAG17",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:44:53.836330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPAG17 was added\ngene: SPAG17 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPAG17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPAG17 were set to 28548327\nPhenotypes for gene: SPAG17 were set to Spermatogenic failure 55, MIM#619380\nReview for gene: SPAG17 was set to RED\nAdded comment: Single family reported with two affected brothers, homozygous missense variant. \nSources: Literature",
"entity_name": "SPAG17",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:41:23.226200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CATIP as ready",
"entity_name": "CATIP",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:41:23.216749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: catip has been classified as Red List (Low Evidence).",
"entity_name": "CATIP",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:41:11.632415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CATIP was added\ngene: CATIP was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CATIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CATIP were set to 32503832\nPhenotypes for gene: CATIP were set to Spermatogenic failure 54, MIM#\t619379\nReview for gene: CATIP was set to RED\nAdded comment: Homozygous missense variant reported in a single consanguineous family with 4 affecteds. Limited functional data. \nSources: Expert list",
"entity_name": "CATIP",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:37:32.072117+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NCDN were changed from neurodevelopmental delay, intellectual disability, and epilepsy to Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:36:54.805241+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373; Mode of inheritance: None",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:35:13.504714+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NCDN were changed from neurodevelopmental delay, intellectual disability, and epilepsy to Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:34:45.654263+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373; Mode of inheritance: None",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:34:13.173720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NCDN were changed from neurodevelopmental delay, intellectual disability, and epilepsy to Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-06-18T07:33:39.511588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373; Mode of inheritance: None",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:36:39.242647+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAX1 as ready",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:36:39.231562+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hax1 has been classified as Green List (High Evidence).",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:36:35.862827+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:35:21.011007+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAX1 were set to ",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:34:56.561321+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:34:29.438197+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:33:35.980282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAX1 as ready",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:33:35.970517+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hax1 has been classified as Green List (High Evidence).",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:33:28.242329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:33:09.291731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAX1 were set to ",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:32:50.467199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:32:29.350256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:32:06.180717+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAX1 as ready",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:32:06.168087+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hax1 has been classified as Green List (High Evidence).",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:31:59.764546+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:31:31.474323+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAX1 were set to ",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:31:08.857502+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T20:30:34.872118+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-06-17T16:41:54.221680+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFS1 were set to 24498631",
"entity_name": "NFS1",
"entity_type": "gene"
}
]
}