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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1031",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1029",
"results": [
{
"created": "2022-01-24T12:37:46.850326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT43 as ready",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:37:46.838384+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift43 has been classified as Green List (High Evidence).",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:37:42.624294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT43 were changed from CRANIOECTODERMAL DYSPLASIA TYPE 3 to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:37:29.696922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT43 were set to ",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:36:54.247180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT172 as ready",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:36:54.236685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift172 has been classified as Green List (High Evidence).",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:36:50.820375+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from JEUNE SYNDROME; MAINZER-SALDINO SYNDROME to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630; Bardet-Biedl syndrome",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:36:29.744133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT172 were set to ",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:35:53.400372+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT122 as ready",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:35:53.382827+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift122 has been classified as Green List (High Evidence).",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:35:49.259475+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from CRANIOECTODERMAL DYSPLASIA to Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:35:36.906753+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT122 were set to ",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:35:06.452091+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: IFITM5.",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:34:51.054830+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFITM5 as ready",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:34:51.042446+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifitm5 has been classified as Green List (High Evidence).",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:34:47.687494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFITM5 were changed from OSTEOGENESIS IMPERFECTA TYPE V to Osteogenesis imperfecta, type V MIM#610967",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:34:35.948677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFITM5 were set to ",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:34:22.471551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFITM5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:33:46.437317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IER3IP1 as ready",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:33:46.423581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2692",
"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": "2022-01-24T12:33:42.926341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy, and diabetes syndrome 614231 to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:33:27.489219+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IER3IP1 were set to ",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:31:06.438092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX8 as ready",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:31:06.428656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax8 has been classified as Green List (High Evidence).",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:30:58.195556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX8 were changed from to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:30:33.283817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX8 were set to ",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:30:14.211957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:29:55.082692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33434492, 9590296, 11232006, 15356023, 15718293; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700, Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:28:13.165677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX8 were changed from Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:27:57.526221+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX8 were set to ",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:27:24.304400+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX8 as Amber List (moderate evidence)",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:27:24.284695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:27:12.532849+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Typically presents post-natally.; to: Isolated congenital hypothyroidism typically presents post-natally.\r\n\r\nHowever note PMID 33434492 reports 5 individuals identified in large cohorts with MRKHS and likely deleterious variants in PAX8. At least one of the individuals had congenital hypothyroidism together with features of MRKHS.",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:26:14.751551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PAX8: Changed rating: AMBER; Changed publications: 33434492; Changed phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700, Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:24:19.132586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX8 as ready",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:24:19.123036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax8 has been classified as Red List (Low Evidence).",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:24:12.062778+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX8 were changed from CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:23:58.359827+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:23:46.192731+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX8 as Red List (low evidence)",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:23:46.182046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax8 has been classified as Red List (Low Evidence).",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:23:35.404927+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:22:21.922835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX6 as ready",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:22:21.900063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Green List (High Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:22:17.207487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from COLOBOMA OF OPTIC NERVE; FOVEAL HYPOPLASIA; ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY; PETERS ANOMALY; KERATITIS HEREDITARY; ANIRIDIA; BILATERAL OPTIC NERVE HYPOPLASIA to Microphthalmia; Coloboma, ocular, MIM# 120200",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:21:58.794495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX6 were set to ",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:21:42.708505+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:20:45.417400+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX3 as ready",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:20:45.405665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax3 has been classified as Green List (High Evidence).",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:20:41.843050+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX3 were changed from CRANIOFACIAL-DEAFNESS-HAND SYNDROME; WAARDENBURG SYNDROME, TYPE 1 to Craniofacial-deafness-hand syndrome, MIM#122880; Waardenburg syndrome, type 1, MIM#193500; Waardenburg syndrome, type 3, MIM#148820",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:20:27.991725+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:20:16.007576+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Skeletal abnormalities are part of the phenotype.",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:20:02.821678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PAX3: Changed rating: GREEN",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:18:55.526199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAPSS2 as ready",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:18:55.510993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: papss2 has been classified as Green List (High Evidence).",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:18:47.496580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAPSS2 were changed from to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:18:29.598702+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAPSS2 were set to ",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:18:11.623736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAPSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:17:44.668806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22791835, 25594860, 31461705, 23633440, 9771708, 19474428; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:16:39.293523+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAPSS2 as ready",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:16:39.281949+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: papss2 has been classified as Green List (High Evidence).",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:16:35.586481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAPSS2 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:16:20.753366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAPSS2 were set to ",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:16:04.575577+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:11:57.422282+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PALB2 as ready",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:11:57.411350+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2677",
"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": "2022-01-24T12:11:54.053215+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PALB2 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP N to Fanconi anaemia, complementation group N, MIM# 610832",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:06:02.012416+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAK3 as ready",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:06:01.978782+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak3 has been classified as Green List (High Evidence).",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:05:45.800558+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, over 20 families reported.\r\n\r\nPMID: 31943058 (2020) - Animal mouse model with a hemizygous variant (p.R67C) in the Pak3 gene, recapitulated some features of the human ID phenotype. Mutant male mice exhibited impairments in long-term spatial memory and pattern separation function, suggestive of altered hippocampal neurogenesis. Analysing critical periods of hippocampal neurogenesis revealed dysfunctional maturation and learning-associated recruitment, as well as accelerated death of selective populations of adult-born hippocampal neurons - offering a possible mechanism to the observed cognitive impairments.; to: Well established gene-disease association, over 20 families reported. Prenatal presentation with agenesis of corpus callosum reported, PMID 31843706.\r\n\r\nPMID: 31943058 (2020) - Animal mouse model with a hemizygous variant (p.R67C) in the Pak3 gene, recapitulated some features of the human ID phenotype. Mutant male mice exhibited impairments in long-term spatial memory and pattern separation function, suggestive of altered hippocampal neurogenesis. Analysing critical periods of hippocampal neurogenesis revealed dysfunctional maturation and learning-associated recruitment, as well as accelerated death of selective populations of adult-born hippocampal neurons - offering a possible mechanism to the observed cognitive impairments.",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:03:38.908578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAK3 were changed from AGENESIS OF THE CORPUS CALLOSUM; MENTAL RETARDATION X-LINKED TYPE 30 to Mental retardation, X-linked 30/47, MIM# 300558; Agenesis of the corpus callosum",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:03:09.752031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAK3 were set to 24556213",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:02:31.239988+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:02:31.228690+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pafah1b1 has been classified as Green List (High Evidence).",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:02:26.984763+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAFAH1B1 were changed from SUBCORTICAL BAND HETEROTOPIA; LISSENCEPHALY TYPE 1 to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:02:13.868772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAFAH1B1 were set to ",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:57:37.374832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAFAH1B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:57:09.951994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTX2 as ready",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:57:09.941103+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otx2 has been classified as Green List (High Evidence).",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:57:05.875660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTX2 were changed from MICROPHTHALMIA SYNDROMIC TYPE 5 to Microphthalmia, syndromic 5, MIM# 610125",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:56:53.938589+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTX2 were set to ",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:56:43.350687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:56:11.802404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC6 as ready",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:56:11.789411+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc6 has been classified as Green List (High Evidence).",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:56:08.042433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from MEIER-GORLIN SYNDROME 3 to Meier-Gorlin syndrome 3, MIM# 613803",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:55:37.091600+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC4 as ready",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:55:37.073402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc4 has been classified as Green List (High Evidence).",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:55:33.048149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC4 were changed from MEIER-GORLIN SYNDROME 2 to Meier-Gorlin syndrome 2, MIM# 613800; MONDO:0013428",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:54:14.776233+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC1 as ready",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:54:14.765506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Green List (High Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:54:11.077878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC1 were changed from MEIER-GORLIN SYNDROME 1 to Meier-Gorlin syndrome 1, MIM# 224690",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:53:54.918140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellect typically normal.; to: IUGR is a feature.",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:53:42.645074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ORC1: Changed rating: GREEN",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:53:38.015774+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30423443, 25772934, 28050600); Phenotypes: Mitochondrial complex I deficiency, nuclear type 30 MIM#301021; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2022-01-24T11:38:25.295508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: None; Publications: 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2022-01-24T08:53:33.025621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UQCRC2 were set to 28275242; 23281071",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2022-01-24T08:53:15.572299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRC2 as Green List (high evidence)",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2022-01-24T08:53:15.561526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrc2 has been classified as Green List (High Evidence).",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2022-01-24T08:52:57.699171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UQCRC2: Added comment: Third family with different variant reported, together with functional data.; Changed rating: GREEN; Changed publications: 28275242, 23281071, 33865955",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2022-01-24T08:51:41.901591+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UQCRC2 were set to 28275242; 23281071",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2022-01-24T08:51:07.846924+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRC2",
"entity_type": "gene"
}
]
}