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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1266",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1264",
"results": [
{
"created": "2021-07-19T13:35:37.623059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOPORS were changed from to Retinitis pigmentosa 31 (MIM#609923)",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:35:20.139946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOPORS were set to ",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:35:00.776688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOPORS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:34:22.158551+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:33:32.218214+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUFU were set to 28965847",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:33:04.481718+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:32:37.750403+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:32:37.740986+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:32:02.806214+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUFU: Added comment: Heterozygous truncating variants in SUFU in 15 subjects from 6 unrelated families of various ethnic backgrounds (familial and de novo cases). Clinical features of early-onset (congenital) ocular ataxia and developmental delay, with some phenotypic variability. Neuroimaging revealed subtle cerebellar changes, but no full-blown molar tooth sign of Joubert syndrome. Paper reports that condition reported here and SUFU-associated Basal cell nevus syndrome (Gorlin) are likely allelic disorders, as there is currently no convincing evidence for a clinical overlap.\r\n\r\nFunctional studies showed no differences in cilia occurrence, morphology, or localization of ciliary proteins, such as smoothened. However, analysis of expression of HH signaling target genes detected a significant increase in the general signaling activity in COMA patient–derived fibroblasts compared with control cells. We observed higher basal HH signaling activity resulting in increased basal expression levels of GLI1, GLI2, GLI3, and Patched1. Neuroimaging revealed subtle cerebellar changes, but no full-blown molar tooth sign. Knockout mice with SuFu deficiency demonstrated that SuFu is required for proper midhindbrain patterning and controls cerebellar patterning.; Changed rating: GREEN; Changed publications: 28965847, 33024317; Changed phenotypes: Joubert syndrome 32, MIM#617757, SUFU-related neurodevelopmental syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:31:25.847405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUFU as ready",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:31:25.836777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:30:50.794913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome; Basal cell nevus syndrome, MIM# 109400",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:30:31.758216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUFU were set to ",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:30:09.017761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUFU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:29:46.936647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUFU: Changed phenotypes: Joubert syndrome 32, MIM#617757, SUFU-related neurodevelopmental syndrome, Basal cell nevus syndrome, MIM# 109400",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:29:06.991944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families described with what are postulated to be hypomorphic bi-allelic variants in this gene and Joubert syndrome. Note gene also causes dominant Basal Cell Nevus Syndrome.; to: Two unrelated families described with what are postulated to be hypomorphic bi-allelic variants in this gene and Joubert syndrome.",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:28:52.316208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUFU: Added comment: Mono-allelic variants are also associated with Basal cell nevus syndrome/predisposition to medulloblastoma.; Changed rating: GREEN; Changed publications: 28965847, 19533801, 31485359; Changed phenotypes: Joubert syndrome 32, MIM#617757, Basal cell nevus syndrome, MIM# 109400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:25:08.098335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCNN1G as ready",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:25:08.086353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1g has been classified as Green List (High Evidence).",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:24:59.612651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCNN1G were changed from to Liddle syndrome 2, MIM# 618114; Pseudohypoaldosteronism, type I, MIM# 264350",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:24:40.726144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCNN1G were set to ",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:24:10.160682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCNN1G was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:23:51.757384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:23:39.047824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCNN1G: Added comment: Variants resulting in constitutive activation of epithelial sodium channel activity have been demonstrated in the beta and gamma subunits as the cause of the autosomal dominant form of hypertension, Liddle syndrome, which is characterized by volume expansion, hypokalemia, and alkalosis.\r\n\r\nVariants causing loss of epithelial sodium channel activity cause the converse phenotype of volume depletion, hyperkalaemia and acidosis characteristic of patients with pseudohypoaldosteronism type I.\r\n\r\nWell established gene-disease associations.; Changed rating: GREEN; Changed phenotypes: Liddle syndrome 2, MIM# 618114, Pseudohypoaldosteronism, type I, MIM# 264350; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:21:58.054186+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCLT1 as ready",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:21:58.042402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sclt1 has been classified as Green List (High Evidence).",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:21:49.228763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCLT1 were changed from to Orofaciodigital syndrome type IX; Senior-Loken syndrome; Bardet-Biedl syndrome",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:21:21.894157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCLT1 were set to ",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:20:53.260529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:19:21.519571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGR as ready",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:19:21.509621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgr has been classified as Green List (High Evidence).",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:19:11.266737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:18:52.974077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGR were set to ",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:18:25.616155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:05:33.575651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCSH as ready",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:05:33.565772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkcsh has been classified as Green List (High Evidence).",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:05:24.615081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 (MIM#174050)",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:05:03.419102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKCSH were set to ",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:04:40.629999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PRKCSH was changed from to None",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:03:38.335522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKCSH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:03:18.529502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11047756, 29038287, 12529853, 12577059; Phenotypes: Polycystic liver disease 1 (MIM#174050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:03:02.698988+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PRKCSH: Well established gene-disease association.",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2021-07-19T13:01:25.819073+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:23:59.960489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC1B as ready",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:23:59.951070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc1b has been classified as Green List (High Evidence).",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:23:50.209479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POC1B were changed from to Cone-rod dystrophy 20 (MIM#615973)",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:23:29.946497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POC1B were set to ",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:22:54.421563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:22:14.493751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:22:10.644664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:21:35.382504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:21:35.373763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:21:26.290220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia (MIM#212065)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:21:06.771526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:20:47.140938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:20:20.966780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PMM2: Added comment: Well established gene-disease association.; Changed rating: GREEN; Changed publications: 28108845",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:19:43.646708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:19:17.591583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKHD1 as ready",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:19:17.581268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Green List (High Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:19:08.929993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:18:01.836986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:17:40.739357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Included due to phenotypic overlap with nephronophthisis.; to: Well established gene-disease association.",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:16:30.558452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MUC1: Changed publications: 29186029, 29156055, 29520014",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:16:13.724245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUC1 as ready",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:16:13.713289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: muc1 has been classified as Green List (High Evidence).",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:16:01.832566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1 (MIM#174000)",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:15:41.732124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUC1 were set to ",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:15:21.262452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:14:44.607064+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:14:37.507988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MUC1: Added comment: Well established gene-disease association, but note main variant type not readily tractable by NGS.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: Medullary cystic kidney disease 1 (MIM#174000); Changed phenotypes: Medullary cystic kidney disease 1 (MIM#174000); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:13:09.392177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF7 as ready",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:13:09.381638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif7 has been classified as Green List (High Evidence).",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:12:48.954508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF7 were changed from to Joubert syndrome 12, MIM# 200990; Acrocallosal syndrome, MIM# 200990; MONDO:0008708; Hydrolethalus syndrome 2, MIM# 614120",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:12:28.835987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF7 were set to ",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:12:08.698538+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:11:04.766960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0753 as ready",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:11:04.758522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0753 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:10:56.312532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0753 were changed from to Orofaciodigital syndrome XV, MIM# 617127; Joubert syndrome",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:10:40.869158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0753 were set to ",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:10:14.197953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA0753 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:09:56.315488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0753: Changed phenotypes: Orofaciodigital syndrome XV 617127, Joubert syndrome; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:09:08.201199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0753: Changed rating: GREEN",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:08:18.227651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:08:18.218333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:08:03.347165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23, MIM# 616490; Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:07:33.760061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0586 were set to ",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:07:08.872252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:06:50.069826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0586: Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546, Joubert syndrome",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:05:57.478122+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT52 as ready",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:05:57.467377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift52 has been classified as Green List (High Evidence).",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:05:45.797913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:05:27.295685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT52 were set to ",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:05:07.852848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:04:20.427858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT27 as ready",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:04:20.417985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:04:11.991998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:03:53.511069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT27 were set to ",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-19T12:03:33.992572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:22:07.235500+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG2 as ready",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:22:07.221367+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg2 has been classified as Green List (High Evidence).",
"entity_name": "POLG2",
"entity_type": "gene"
}
]
}