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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1248",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1246",
"results": [
{
"created": "2021-08-08T15:08:48.326303+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRX1 were changed from Agnathia-otocephaly complex, MIM# 202650 to Agnathia-otocephaly complex, MIM# 202650",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:08:37.785372+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRRX1 as ready",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:08:37.774427+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrx1 has been classified as Green List (High Evidence).",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:08:28.241812+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRX1 were changed from to Agnathia-otocephaly complex, MIM# 202650",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:08:08.291065+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:07:47.548658+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRRX1 were set to ",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:07:32.218340+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRRX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:07:02.712571+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRRX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21294718, 22211708, 22674740, 23444262; Phenotypes: Agnathia-otocephaly complex, MIM# 202650; Mode of inheritance: None",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:03:20.214118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1D as ready",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:03:20.204654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1d has been classified as Green List (High Evidence).",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:03:12.550413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1D were changed from to Treacher Collins syndrome 2, MIM# 613717",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:02:54.676876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1D were set to ",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:02:37.487857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1D was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:02:20.116666+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR1D: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:02:00.213998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131976, 24603435, 27448281, 25790162; Phenotypes: Treacher Collins syndrome 2, MIM# 613717; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:01:26.915884+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:00:37.973925+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1D as ready",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:00:37.961240+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1d has been classified as Green List (High Evidence).",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:00:32.175770+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1D were changed from to Treacher Collins syndrome 2, MIM# 613717",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T15:00:08.774564+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1D were set to ",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:59:40.764369+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:59:15.541451+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131976, 24603435, 27448281, 25790162; Phenotypes: Treacher Collins syndrome 2, MIM# 613717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:55:33.645021+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL11 as ready",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:55:33.635105+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Green List (High Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:55:30.841221+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:55:07.719213+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL11 were set to ",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:54:46.186100+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:54:21.000255+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Craniofacial and limb abnormalities are common.",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:51:50.931353+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP73 as ready",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:51:50.916190+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp73 has been classified as Green List (High Evidence).",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:51:40.877203+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TP73 as Green List (high evidence)",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:51:40.867695+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp73 has been classified as Green List (High Evidence).",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:51:10.911191+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP73 was added\ngene: TP73 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP73 were set to 31130284; 34077761\nPhenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466\nReview for gene: TP73 was set to GREEN\nAdded comment: 7 unrelated families reported. In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls.\r\n\r\nClinical features included recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also had neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. \nSources: Literature",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:48:05.880347+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP73 were changed from Intellectual disability; lissencephaly to Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466; Intellectual disability; lissencephaly",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:47:25.353086+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TP73: Added comment: Additional 5 families reported in PMID 34077761; Changed rating: GREEN; Changed publications: 31130284, 34077761; Changed phenotypes: Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466, Intellectual disability, lissencephaly",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:46:12.255998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP73 were changed from Cortical malformation; Lissencephaly to Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466; Cortical malformation; Lissencephaly",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:45:52.304706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466; Mode of inheritance: None",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:45:31.441027+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP73 were changed from brain malformation; lissencephaly to Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466; brain malformation; lissencephaly",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:44:57.218939+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466; Mode of inheritance: None",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:43:08.558594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040 to Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:42:42.523207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SYT2: Changed phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040, Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:42:23.254451+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic, 616040 to Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2021-08-08T14:42:06.416452+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SYT2: Changed phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040, Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive OMIM#619461",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2021-08-08T10:00:06.907845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1C as ready",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T10:00:06.897276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1c has been classified as Green List (High Evidence).",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:59:58.668012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1C were changed from to Treacher Collins syndrome 3, MIM# 248390; Leukodystrophy, hypomyelinating, 11, MIM# 616494",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:59:39.608434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1C were set to ",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:59:21.970971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:59:01.548354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131976, 30957429, 26151409, 32042905; Phenotypes: Treacher Collins syndrome 3, MIM# 248390, Leukodystrophy, hypomyelinating, 11, MIM# 616494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:57:24.779988+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1C as ready",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:57:24.770628+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1c has been classified as Green List (High Evidence).",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:57:22.506192+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1C were changed from to Treacher Collins syndrome 3, MIM# 248390",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:56:54.641056+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1C were set to ",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:56:31.948298+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-08T09:56:06.718080+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131976, 30957429; Phenotypes: Treacher Collins syndrome 3, MIM# 248390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:58:25.292258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF3B4 as ready",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:58:25.281874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b4 has been classified as Green List (High Evidence).",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:58:16.210029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B4 were changed from to Acrofacial dysostosis 1, Nager type, MIM# 154400",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:57:59.364790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SF3B4 were set to ",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:57:39.917181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SF3B4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:57:21.195134+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SF3B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541558, 23568615, 24003905; Phenotypes: Acrofacial dysostosis 1, Nager type, MIM# 154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:56:38.542916+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF3B4 as ready",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:56:38.531784+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b4 has been classified as Green List (High Evidence).",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:56:36.451536+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B4 were changed from to Acrofacial dysostosis 1, Nager type, MIM# 154400",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:56:16.265855+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SF3B4 were set to ",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:55:49.006946+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SF3B4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:55:19.702085+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SF3B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541558, 23568615, 24003905; Phenotypes: Acrofacial dysostosis 1, Nager type, MIM# 154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:53:08.384702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMCO1 as ready",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:53:08.374808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmco1 has been classified as Green List (High Evidence).",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:52:59.836236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMCO1 were changed from to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:52:42.249893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMCO1 were set to ",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:52:23.022165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:51:57.886080+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20018682, 23320496, 17351359, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:51:16.732219+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMCO1 as ready",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:51:16.720610+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmco1 has been classified as Green List (High Evidence).",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:51:04.822479+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMCO1 were changed from to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:50:43.322077+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMCO1 were set to ",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:50:20.328365+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:49:55.739140+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Clinical features include severe intellectual disability, as well as distinctive craniofacial features, including brachycephaly, synophrys, arched eyebrows, \"cupid's bow\" upper lip, and microdontia. In addition, nonspecific skeletal anomalies are common, including bifid ribs, scoliosis, and spinal fusion.\r\n\r\nMore than 20 individuals reported.; to: Clinical features include severe intellectual disability, as well as distinctive craniofacial features, including brachycephaly, synophrys, arched eyebrows, \"cupid's bow\" upper lip, and microdontia. In addition, nonspecific skeletal anomalies are common, including bifid ribs, scoliosis, and spinal fusion.\r\n\r\nMore than 20 individuals reported. c.292_293del (p.Ser98*) variant has been identified in multiple individuals from different ethnicities.",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:49:13.358063+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20018682, 23320496, 17351359, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:45:29.380388+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF3B2 as ready",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:45:29.370488+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b2 has been classified as Green List (High Evidence).",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:45:21.994430+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SF3B2 as Green List (high evidence)",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:45:21.983134+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b2 has been classified as Green List (High Evidence).",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:45:13.875026+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SF3B2 was added\ngene: SF3B2 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SF3B2 were set to 34344887\nPhenotypes for gene: SF3B2 were set to Craniofacial microsomia\nReview for gene: SF3B2 was set to GREEN\nAdded comment: Twenty individuals from seven families reported with de novo or transmitted haploinsufficient variants in SF3B2. Affected individuals had mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities.\r\n\r\nTargeted morpholino knockdown of SF3B2 in Xenopus resulted in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease.\r\n\r\nThe families were ascertained from a cohort and the authors suggest that haploinsufficient variants in SF3B2 are the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases. \nSources: Literature",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:37:35.575533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA3D were changed from Hand and foot malformations to Hand and foot malformations; Hirschsprung disease",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2021-08-07T17:32:37.930808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33772159, 29861105; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2021-08-07T16:19:25.608257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RGS10 as ready",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-08-07T16:19:25.597710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgs10 has been classified as Red List (Low Evidence).",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-08-07T16:19:00.869918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RGS10 was added\ngene: RGS10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RGS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RGS10 were set to 34315806; 34339853\nPhenotypes for gene: RGS10 were set to Immunodeficiency; short stature\nReview for gene: RGS10 was set to RED\nAdded comment: Three affected siblings with short stature and immunodeficiency and segregating biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals had recurrent infections, hypergammaglobulinaemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Limited functional data presented. Further experimental data linking RGS10 to immune function presented in PMID 34339853. \nSources: Literature",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-08-07T16:18:23.361570+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RGS10 as ready",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-08-07T16:18:23.352450+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgs10 has been classified as Red List (Low Evidence).",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-08-07T16:17:28.089616+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RGS10 were set to 34315806",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-08-07T16:16:53.834242+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three affected siblings with short stature and immunodeficiency and segregating biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals had recurrent infections, hypergammaglobulinaemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Limited functional data presented. \nSources: Literature; to: Three affected siblings with short stature and immunodeficiency and segregating biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals had recurrent infections, hypergammaglobulinaemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Limited functional data presented. Further experimental data linking RGS10 to immune function presented in PMID 34339853.\r\nSources: Literature",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-08-07T16:16:24.735799+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RGS10: Changed publications: 34315806, 34339853",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-08-07T16:15:53.725031+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RGS10 was added\ngene: RGS10 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: RGS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RGS10 were set to 34315806\nPhenotypes for gene: RGS10 were set to Immunodeficiency; short stature\nReview for gene: RGS10 was set to RED\nAdded comment: Three affected siblings with short stature and immunodeficiency and segregating biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals had recurrent infections, hypergammaglobulinaemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Limited functional data presented. \nSources: Literature",
"entity_name": "RGS10",
"entity_type": "gene"
},
{
"created": "2021-08-07T12:42:43.464305+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAST3 as ready",
"entity_name": "MAST3",
"entity_type": "gene"
},
{
"created": "2021-08-07T12:42:43.454761+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mast3 has been classified as Green List (High Evidence).",
"entity_name": "MAST3",
"entity_type": "gene"
},
{
"created": "2021-08-07T12:42:38.419463+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAST3 as Green List (high evidence)",
"entity_name": "MAST3",
"entity_type": "gene"
},
{
"created": "2021-08-07T12:42:38.409466+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mast3 has been classified as Green List (High Evidence).",
"entity_name": "MAST3",
"entity_type": "gene"
}
]
}