HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1133",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1131",
"results": [
{
"created": "2021-11-11T18:36:35.819426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9704",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease association curation: Disputed - We have disregarded the very limited functional evidence in light of the complete lack of genetic evidence connecting EFHC1 and epilepsy. In summary, there is convincing evidence disputing the association between EFHC1 and epilepsy. All variants in EFHC1 associated with epilepsy have contradictory evidence for disease association (too common in ExAC/gnomAD, with minor allele frequencies (MAF) of 2.857e-5 to 0.05973). More evidence is needed to either support or refute the role EFHC1 plays in this disease. Classification - 07/27/2018, reviewed Sept 2021",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:36:35.784948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9704",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: efhc1 has been classified as Red List (Low Evidence).",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:36:04.138314+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1386",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EFHC1 as Red List (low evidence)",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:36:04.133249+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1386",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease association curation: Disputed - We have disregarded the very limited functional evidence in light of the complete lack of genetic evidence connecting EFHC1 and epilepsy. In summary, there is convincing evidence disputing the association between EFHC1 and epilepsy. All variants in EFHC1 associated with epilepsy have contradictory evidence for disease association (too common in ExAC/gnomAD, with minor allele frequencies (MAF) of 2.857e-5 to 0.05973). More evidence is needed to either support or refute the role EFHC1 plays in this disease. Classification - 07/27/2018, reviewed Sept 2021",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:36:04.097263+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1386",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: efhc1 has been classified as Red List (Low Evidence).",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:35:59.308355+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DNAJC5 as ready",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:35:59.298226+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dnajc5 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:29:57.479418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDAN1 as ready",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:29:57.466458+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdan1 has been classified as Green List (High Evidence).",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:29:53.769743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDAN1 were changed from Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Dyserythropoietic anemia, congenital, type Ia, OMIM:224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM#224120",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:29:34.503809+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:29:16.707982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:24:57.952139+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1385",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DNAJC5 as ready",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:24:57.942621+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1385",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dnajc5 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:24:43.128207+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1385",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DNAJC5 as Green List (high evidence)",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:24:43.108386+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1385",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dnajc5 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:23:51.065591+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1384",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNAJC5 was added\ngene: DNAJC5 was added to Genetic Epilepsy. Sources: ClinGen\nMode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNAJC5 were set to 22978711; 21820099; 22235333; 31919451; 26659577\nPhenotypes for gene: DNAJC5 were set to adult neuronal ceroid lipofuscinosis (MONDO:0019260)\nReview for gene: DNAJC5 was set to GREEN\nAdded comment: ClinGen Epilepsy GCEP gene-disease curation: Moderate, >3 families reported. Classification - 07/30/2021 \nSources: ClinGen",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:21:45.607479+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DNAJC5 as Green List (high evidence)",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:21:45.602866+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease curation: Moderate, >3 families reported. Classification - 07/30/2021",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:21:45.565226+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dnajc5 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:20:37.206274+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DNAJC5 were set to ",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:01:36.548628+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCND2 as ready",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:01:36.538222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccnd2 has been classified as Green List (High Evidence).",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:01:31.561496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCND2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:01:18.725723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCND2 were set to ",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:00:33.584943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CCND2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2021-11-11T18:00:21.890994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCND2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:57:48.817563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC40 as ready",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:57:48.807030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc40 has been classified as Green List (High Evidence).",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:56:25.504180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC40 were changed from CILIARY DYSKINESIA, PRIMARY, 15 to Ciliary dyskinesia, primary, 15, MIM#613808",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:56:10.885926+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC40 were set to ",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:55:57.033365+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 40 unrelated families reported.; to: Over 40 unrelated families reported. Approximately half had situs inversus.",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:55:13.529793+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC39 as ready",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:55:13.520285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc39 has been classified as Green List (High Evidence).",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:55:09.972139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC39 were changed from CILIARY DYSKINESIA, PRIMARY, 14 to Ciliary dyskinesia, primary, 14, MIM# 613807",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:54:59.290412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC39 were set to ",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:54:46.124444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 20 unrelated families reported.; to: Over 20 unrelated families reported. Situs inverses in approximately half.",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:54:00.288740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC114 as ready",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:54:00.274551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc114 has been classified as Green List (High Evidence).",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:53:56.573844+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC114 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 20, MIM# 615067",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:53:45.259193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC114 were set to ",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:53:23.638606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC103 as ready",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:53:23.628250+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc103 has been classified as Green List (High Evidence).",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:53:20.070669+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC103 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 17, MIM# 614679",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:53:08.397753+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC103 were set to ",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:52:11.648694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:52:11.637468+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:52:07.764655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from MECKEL SYNDROME, TYPE 6; JOUBERT SYNDROME 9; COACH SYNDROME to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:51:55.173217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:51:32.606754+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBL as ready",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:51:32.595679+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbl has been classified as Green List (High Evidence).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:51:28.539756+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBL were changed from NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:51:14.515355+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CBL were set to ",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:51:03.282435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:50:52.446017+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CBL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:50:41.184063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported.; to: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported.\r\n\r\nCan present antenatally with hydrops or congenital heart disease.",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:50:03.849359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:50:03.834562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Green List (High Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:50:00.250522+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from MENTAL RETARDATION X-LINKED CASK-RELATED; MRX WITH/WITHOUT NYSTAGMUS; FG SYNDROME TYPE 4 to FG syndrome 4, MIM# 300422; Mental retardation, with or without nystagmus, MIM# 300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:49:37.977598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASK were set to ",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:49:27.594450+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASK was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:49:13.494868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: FG syndrome is listed in review articles of arthrogryposis-associated conditions, however I am unable to find specific reports of contractures, or mention of contractures in reviews of CASK-related disorders.; to: CASK-related disorders have microcephaly and structural brain abnormalities as features.",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:48:46.572603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CASK: Changed rating: GREEN; Changed phenotypes: FG syndrome 4, MIM# 300422, Mental retardation, with or without nystagmus, MIM# 300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:48:03.512227+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1E as ready",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:48:03.502476+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1e has been classified as Green List (High Evidence).",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:47:59.420081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1E were changed from Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias to Epileptic encephalopathy, early infantile, 69, MIM#618285",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:47:45.361356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1E were set to 30849329",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:47:33.214607+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:47:09.124987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1C as ready",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:47:09.111512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Green List (High Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:47:04.575455+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:46:52.283094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1C were set to ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:46:42.510338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:46:30.424861+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15454078; Phenotypes: Timothy syndrome, MIM# 601005, Long QT syndrome 8, MIM# 618447; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:42:56.629140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA8 as ready",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:42:56.617175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca8 has been classified as Red List (Low Evidence).",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:42:43.884703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA8 were changed from CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:42:22.887824+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CA8 were set to ",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:42:10.016741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CA8 as Red List (low evidence)",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:42:10.005667+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca8 has been classified as Red List (Low Evidence).",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:41:58.858130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least two unrelated families reported, and animal model.; to: Phenotype becomes apparent post-natally; two unrelated families reported, and animal model.",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:41:39.259849+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CA8: Changed rating: RED",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:40:48.906630+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA2 as ready",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:40:48.894979+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca2 has been classified as Green List (High Evidence).",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:40:45.369089+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA2 were changed from OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:40:29.941984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is part of the phenotype in some patients.; to: Can present perinatally.",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:38:44.231845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8orf37 as ready",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:38:44.222563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:38:38.903378+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C8orf37 were changed from CONE-ROD DYSTROPHY 16 to Bardet-Biedl syndrome 21, MIM#617406",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:38:26.980357+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C8orf37 were set to ",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:38:13.627463+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C8orf37 as Amber List (moderate evidence)",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:38:13.616270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:38:00.433403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies. \nSources: Expert list; to: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies, which would not be detectable antenatally. \r\nSources: Expert list",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:37:20.851874+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association.\r\n\r\nNew gene name is CPLANE1.; to: Well established gene-disease associations, structural brain abnormalities. More than 10 unrelated families reported with each association.\r\n\r\nNew gene name is CPLANE1.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:36:57.134063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5orf42 as ready",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:36:57.124381+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Green List (High Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:36:49.390978+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C5orf42 were changed from JOUBERT SYNDROME to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:36:35.791922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C5orf42.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:36:12.675221+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C5orf42 were set to ",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:35:49.052909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C21orf2 as ready",
"entity_name": "C21orf2",
"entity_type": "gene"
}
]
}