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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1751",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1749",
"results": [
{
"created": "2020-07-01T20:08:11.412639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emilin1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:06:08.288889+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE3 as ready",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:06:08.279920+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:06:04.609915+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE3 were changed from to {Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM#\t617349",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:05:39.560605+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXE3 as Amber List (moderate evidence)",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-07-01T20:05:39.547771+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:59:38.307972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOC7 was added\ngene: EXOC7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC7 were set to 32103185\nPhenotypes for gene: EXOC7 were set to brain atrophy; seizures; developmental delay; microcephaly\nReview for gene: EXOC7 was set to GREEN\nAdded comment: 4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families. They showed that EXOC7, a member of the mammalian exocyst complex, is highly expressed in developing human cortex. In addition, a zebrafish model of Exoc7 deficiency recapitulates the human disorder with increased apoptosis and decreased progenitor cells during telencephalon development, suggesting that the brain atrophy in human cases reflects neuronal degeneration. \nSources: Literature",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:57:59.066952+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOC7 as ready",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:57:59.053992+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc7 has been classified as Green List (High Evidence).",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:57:40.204478+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOC7 as ready",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:57:40.195793+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc7 has been classified as Green List (High Evidence).",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:53:43.614216+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOC7 as ready",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:53:43.601931+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc7 has been classified as Green List (High Evidence).",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:51:18.386026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNRNPH1 was added\ngene: HNRNPH1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPH1 were set to 32335897; 29938792\nPhenotypes for gene: HNRNPH1 were set to HNRNPH1‐related syndromic intellectual disability\nReview for gene: HNRNPH1 was set to GREEN\nAdded comment: 1st patient reported in 2018 with intellectual disability and dysmorphic features and HNRNPH1 heterozygous missense variant. 2020 paper reports additional 7 cases with ID, short stature, microcephaly, distinctive dysmorphic facial features, and congenital anomalies (cranial, brain, genitourinary, palate, ophthalmologic). They all had HNRNPH1 heterozygous pathogenic variants (missense, frameshift, in‐frame deletion, entire gene duplication) and were identified using clinical networks and GeneMatcher. No comments in paper if all de novo. \nSources: Literature",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:49:29.673849+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPH1 as ready",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:49:29.660200+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnph1 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:48:52.797468+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM2 as ready",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:48:52.786740+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm2 has been classified as Green List (High Evidence).",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:48:49.970807+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM2 were changed from to Arthrogryposis, distal, type 1A/2B4 (MIM#108120)",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:48:17.879011+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPM2 were set to ",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:47:41.703561+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:45:05.422819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDCD6IP was added\ngene: PDCD6IP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD6IP were set to 32286682\nPhenotypes for gene: PDCD6IP were set to Microcephaly; intellectual disability\nReview for gene: PDCD6IP was set to AMBER\nAdded comment: One consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies. \nSources: Literature",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:42:57.702933+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDCD6IP as ready",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:42:57.691012+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:42:51.910833+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDCD6IP as Amber List (moderate evidence)",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:42:51.896694+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:41:52.581831+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDCD6IP as ready",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:41:52.576181+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single family and animal models, upgrade to Amber.",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:41:52.531100+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:41:49.056694+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDCD6IP as Amber List (moderate evidence)",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:41:49.047917+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:40:51.498663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NME5 as ready",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:40:51.485534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:40:36.203739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NME5 as Amber List (moderate evidence)",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:40:36.191291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:40:17.129932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NME5 was added\ngene: NME5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NME5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NME5 were set to 32185794\nPhenotypes for gene: NME5 were set to Primary ciliary dyskinesia\nReview for gene: NME5 was set to AMBER\nAdded comment: One patient with PCD with situs solitus, with radial spokes (RS) and central pair (CP) defects. Patient had a homozygous nonsense variant in NME5, with parents as carriers. Morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy. \nSources: Literature",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:26:58.071083+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NME5 as ready",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:26:58.065296+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single family and animal model, upgrade to Amber.",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:26:58.022204+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:26:53.372446+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NME5 as Amber List (moderate evidence)",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:26:53.363272+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nme5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:23:40.371180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTS19 were set to 31844321",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:23:23.173313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS19 as Green List (high evidence)",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:23:23.162903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts19 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-07-01T19:23:02.366552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: None; Publications: 32323311, 31844321; Phenotypes: Heart valve disease (HVD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS19",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:49:06.058281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3189",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "changed review comment from: Missense mutations identified in two families. First family, proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Variant segregated with disease in the affected proband, mother, and son. Second family, father and three affected children showed amyotrophy and weakness of the distal lower limbs, dating back to early childhood. Some functional studies performed in patient fibroblasts and zebrafish, however these were not conclusive as the two missense mutations are at different locations within the protein. \nSources: Literature; to: Missense mutations identified in two families. First family, proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Variant segregated with disease in the affected proband, mother, and son. Second family, father and three affected children showed amyotrophy and weakness of the distal lower limbs, dating back to early childhood. Some functional studies performed in patient fibroblasts and zebrafish, however these were not conclusive as the two missense mutations are at different locations within the protein. \r\nSources: Literature",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:48:39.809293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3189",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: EMILIN1 was added\ngene: EMILIN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EMILIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EMILIN1 were set to PMID: 31978608; 26462740.\nPhenotypes for gene: EMILIN1 were set to peripheral neuropathy\nPenetrance for gene: EMILIN1 were set to unknown\nReview for gene: EMILIN1 was set to AMBER\nAdded comment: Missense mutations identified in two families. First family, proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Variant segregated with disease in the affected proband, mother, and son. Second family, father and three affected children showed amyotrophy and weakness of the distal lower limbs, dating back to early childhood. Some functional studies performed in patient fibroblasts and zebrafish, however these were not conclusive as the two missense mutations are at different locations within the protein. \nSources: Literature",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:46:30.516727+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:46:30.507190+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Green List (High Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:46:26.753947+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKT3 as Green List (high evidence)",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:46:26.743960+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Green List (High Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:34:49.876945+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS3 as ready",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:34:49.866605+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts3 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:34:46.216133+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS3 as Green List (high evidence)",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:34:46.206509+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts3 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:34:38.716794+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS3 was added\ngene: ADAMTS3 was added to Lymphoedema_syndromic. Sources: Expert Review\nMode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS3 were set to 28985353; 30450763\nPhenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)\nReview for gene: ADAMTS3 was set to GREEN\nAdded comment: Two families and functional data. Some dysmorphism described. \nSources: Expert Review",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:33:00.232654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS3 as ready",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:33:00.222009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts3 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:32:49.669571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS3 as Green List (high evidence)",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:32:49.656539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts3 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:32:29.320432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS3 was added\ngene: ADAMTS3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS3 were set to 28985353; 30450763\nPhenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)\nReview for gene: ADAMTS3 was set to GREEN\nAdded comment: Two families reported, supportive functional data. \nSources: Expert list",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:25:12.713872+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAA as ready",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:25:12.707317+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Metabolic condition with phenotypic overlap.",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:25:12.667647+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:24:58.162608+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAA as Green List (high evidence)",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:24:58.149649+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:09:10.578147+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-07-01T18:09:10.560246+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:59:47.305130+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNE as Amber List (moderate evidence)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:59:47.291238+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:58:53.434029+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:58:53.421049+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:58:46.069227+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNC as Green List (high evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:58:46.060085+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:58:24.093949+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COL12A1 as ready",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:58:24.082004+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col12a1 has been classified as Green List (High Evidence).",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:58:05.071199+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL12A1 as Green List (high evidence)",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:58:05.058849+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col12a1 has been classified as Green List (High Evidence).",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:57:54.251397+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:57:54.247121+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Causes a range of conditions affecting muscle, phenotypic overlap.",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:57:54.213937+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:57:33.174380+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL12A1 was added\ngene: COL12A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COL12A1 were set to 28306229; 31273343; 24334604\nPhenotypes for gene: COL12A1 were set to Myopathic EDS; Bethlem myopathy 2 MIM#616471; Ullrich congenital muscular dystrophy 2 MIM#616470\nReview for gene: COL12A1 was set to GREEN\nAdded comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).\r\n18 cases from 12 unrelated families have been reported with monoallelic variants (both de novo and inherited), and one family has been reported with a homozygous variant. A null mouse model recapitulates the phenotype. \nSources: Expert list",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:57:24.533547+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNC as Green List (high evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:57:24.524223+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:56:18.420034+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMP2 as ready",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:56:18.403654+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:56:13.044597+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMP2 as Amber List (moderate evidence)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:56:13.032401+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:55:29.482053+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFDH as ready",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:55:29.476015+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Metabolic disorder with phenotypic overlap.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:55:29.426678+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Amber List (Moderate Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:55:18.684670+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ETFDH as Amber List (moderate evidence)",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:55:18.674695+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Amber List (Moderate Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:52:52.973644+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOK7 as Green List (high evidence)",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:52:52.961072+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dok7 has been classified as Green List (High Evidence).",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:52:21.447363+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNA as ready",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:52:21.440238+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Phenotypic overlap.",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:52:21.385057+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:52:12.410054+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNA as Green List (high evidence)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-07-01T17:52:12.395999+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
}
]
}