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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1369",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1367",
"results": [
{
"created": "2021-03-28T17:44:13.675192+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:43:43.061251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IER3IP1 as ready",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:43:43.045753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ier3ip1 has been classified as Green List (High Evidence).",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:43:36.967019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IER3IP1 were changed from to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:43:17.495051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IER3IP1 were set to ",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:42:58.680754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IER3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:42:40.053731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:41:42.544755+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IER3IP1 as ready",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:41:42.531294+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ier3ip1 has been classified as Green List (High Evidence).",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:41:40.205872+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IER3IP1 were changed from to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:41:18.351994+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IER3IP1 were set to ",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:40:45.772651+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IER3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:40:18.735032+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IER3IP1: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T17:39:18.510751+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:42:01.726292+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFTUD2 as ready",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:42:01.714228+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eftud2 has been classified as Green List (High Evidence).",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:41:56.670523+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:41:29.242225+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFTUD2 were set to ",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:41:03.826303+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:40:31.030025+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:40:13.645846+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFTUD2 as ready",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:40:13.633730+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eftud2 has been classified as Green List (High Evidence).",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:40:07.554710+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:39:39.916570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFTUD2 as ready",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:39:39.906422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eftud2 has been classified as Green List (High Evidence).",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:39:33.373245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:39:16.124571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFTUD2 were set to ",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:38:57.918666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:38:39.480774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:38:00.235703+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFTUD2 as ready",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:38:00.226510+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eftud2 has been classified as Green List (High Evidence).",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:37:53.947433+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:37:46.595699+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:37:17.855051+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFTUD2 were set to ",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:36:50.542660+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:36:25.966204+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:36:20.310064+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFTUD2 were set to ",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:35:53.682849+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:35:24.209069+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:28:10.432793+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP152 as ready",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:28:10.421338+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Green List (High Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:28:05.998993+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:27:39.346177+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP152 were set to ",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:27:07.057319+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:26:39.331803+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:25:30.914169+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP152 as ready",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:25:30.900157+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Red List (Low Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:25:27.966484+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:25:04.585230+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP152 were set to ",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:24:37.652004+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:24:16.062852+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP152 as Red List (low evidence)",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:24:16.052423+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Red List (Low Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:23:51.483237+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Corpus callosum abnoramalities are not a prominent feature of these conditions, rather reduced brain size and simplified gyral pattern.; to: Corpus callosum abnormalities are not a prominent feature of these conditions, rather reduced brain size and simplified gyral pattern.",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:23:42.919147+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:22:23.848097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP152 as ready",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:22:23.837510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Green List (High Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:22:16.373067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:21:52.934467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP152 were set to ",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:21:31.875257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:21:12.820380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:20:40.701853+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome. Gene encodes centriole protein.; to: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. Gene encodes centriole protein.",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:20:06.967990+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP152 as ready",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:20:06.956552+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Green List (High Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:20:04.222148+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:19:34.840899+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP152 were set to ",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:19:05.554490+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:18:36.212237+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:12:08.767462+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-28T10:12:08.753939+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:37:47.426131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPAT as ready",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:37:47.417038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnpat has been classified as Green List (High Evidence).",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:37:39.137624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPAT were changed from to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:37:18.493395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNPAT were set to ",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:36:56.474210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNPAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:36:39.362482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765, MONDO:0009112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:14:49.935241+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL3 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate to Neurodevelopmental disorder with or without autism or seizures, MIM# 619239; Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:14:16.421672+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without autism or seizures, MIM# 619239; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:13:50.382456+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL3 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate to Neurodevelopmental disorder with or without autism or seizures, MIM# 619239; Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:13:14.179569+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUL3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without autism or seizures 619239; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:12:38.224846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL3 were changed from Pseudohypoaldosteronism, type IIE 614496; Intellectual disability; Autism; Seizures to Pseudohypoaldosteronism, type IIE 614496; Neurodevelopmental disorder with or without autism or seizures, MIM#\t619239",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:12:14.204325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CUL3: Changed phenotypes: Pseudohypoaldosteronism, type IIE 614496, Neurodevelopmental disorder with or without autism or seizures 619239",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:11:54.946667+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL3 were changed from Autism; Intellectual disability; Epilepsy to Neurodevelopmental disorder with or without autism or seizures\t619239",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:11:29.389593+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CUL3: Changed phenotypes: Neurodevelopmental disorder with or without autism or seizures MIM#619239",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:10:11.129156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD4 as ready",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:10:11.115390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd4 has been classified as Green List (High Evidence).",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:05:42.611957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD4 were changed from to Immunodeficiency 79, MIM# 619238; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:05:25.132714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD4 were set to ",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:05:06.379495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:04:47.193623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported, functional data, emerging gene.; to: Two individuals reported, functional data.",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:04:36.893963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD4: Changed rating: GREEN; Changed publications: 31781092, 33471124; Changed phenotypes: Immunodeficiency 79, MIM# 619238, Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:03:53.018543+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD4 were changed from Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts to Immunodeficiency 79, MIM# 619238; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:03:16.298623+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD4 were set to 31781092",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:02:47.177150+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD4 as Green List (high evidence)",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:02:47.138201+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd4 has been classified as Green List (High Evidence).",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:02:22.422879+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported, functional data, emerging gene. \nSources: Literature; to: Two individuals reported, functional data. \r\nSources: Literature",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:02:09.700073+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD4: Changed rating: GREEN",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:02:01.739687+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD4: Changed publications: 31781092, 33471124",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T14:01:34.412438+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD4: Changed phenotypes: Immunodeficiency 79, MIM# 619238, Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts",
"entity_name": "CD4",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:57:21.400462+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:57:21.396000+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name KATNIP",
"entity_name": "KIAA0586",
"entity_type": "gene"
}
]
}