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{
"count": 220695,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=134",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=132",
"results": [
{
"created": "2025-11-14T09:20:11.946663+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.252",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene TOGARAM2 from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:20:11.742994+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.252",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TOGARAM2 was added\ngene: TOGARAM2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: TOGARAM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM2 were set to PMID:38374469\nPhenotypes for gene: TOGARAM2 were set to Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related",
"entity_name": "TOGARAM2",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:17:40.649629+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.251",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene MAP3K1 from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:17:40.473421+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.251",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MAP3K1 was added\ngene: MAP3K1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: MAP3K1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAP3K1 were set to 39062623\nPhenotypes for gene: MAP3K1 were set to Hearing loss disorder, MONDO:0005365, MAP3K1-related",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:15:23.888446+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.250",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CENPP from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:15:23.718954+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.250",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CENPP was added\ngene: CENPP was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: CENPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CENPP were set to 36071244\nPhenotypes for gene: CENPP were set to autosomal dominant nonsyndromic hearing loss; MONDO:0019587",
"entity_name": "CENPP",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:14:16.371273+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.249",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene TRRAP from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:14:16.197492+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.249",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TRRAP was added\ngene: TRRAP was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRRAP were set to PMID: 31231791\nPhenotypes for gene: TRRAP were set to Deafness, autosomal dominant 75 MIM#618778",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:13:40.564936+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.248",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene TECTB from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:13:40.391787+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TECTB was added\ngene: TECTB was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: TECTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TECTB were set to 40832383\nPhenotypes for gene: TECTB were set to Hearing loss disorder, MONDO:0005365, TECTB-related",
"entity_name": "TECTB",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:13:03.685726+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.248",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene SMARCA4 from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:13:03.430379+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SMARCA4 was added\ngene: SMARCA4 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMARCA4 were set to 37399313\nPhenotypes for gene: SMARCA4 were set to Otosclerosis MONDO:0005349, SMARCA4-related",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:12:26.540081+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.247",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene SEZ6 from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:12:26.294749+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.247",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SEZ6 was added\ngene: SEZ6 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SEZ6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEZ6 were set to 34135477\nPhenotypes for gene: SEZ6 were set to Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related",
"entity_name": "SEZ6",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:11:49.953329+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.247",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene REST from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:11:49.779477+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.247",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: REST was added\ngene: REST was added to Deafness_IsolatedAndComplex. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: REST were set to 29961578; 34828371\nPhenotypes for gene: REST were set to Deafness, autosomal dominant 27, MIM# 612431",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:11:02.777672+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.246",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NCOA3 from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:11:02.598075+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.246",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NCOA3 was added\ngene: NCOA3 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NCOA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NCOA3 were set to 33326993\nPhenotypes for gene: NCOA3 were set to Non-syndromic hearing loss",
"entity_name": "NCOA3",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:10:26.335514+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.245",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene MPDZ from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:10:26.148811+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.245",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MPDZ was added\ngene: MPDZ was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDZ were set to 34135477; 29026089\nPhenotypes for gene: MPDZ were set to Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:09:48.363188+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.245",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene MEPE from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:09:48.189942+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.245",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MEPE was added\ngene: MEPE was added to Deafness_IsolatedAndComplex. Sources: Expert Review Amber,Expert Review\nMode of inheritance for gene: MEPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEPE were set to 30287925\nPhenotypes for gene: MEPE were set to Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related; hereditary congenital facial paresis; otosclerosis",
"entity_name": "MEPE",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:08:58.916814+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.244",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene IKZF2 from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:08:58.746978+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.244",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: IKZF2 was added\ngene: IKZF2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF2 were set to PMID: 39406892\nPhenotypes for gene: IKZF2 were set to nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:08:22.961430+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.244",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GOSR2 from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:08:22.771468+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.244",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GOSR2 was added\ngene: GOSR2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Expert Review\nMode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOSR2 were set to 37074134\nPhenotypes for gene: GOSR2 were set to hearing loss, autosomal recessive, MONDO:0019588, GOSR2-related",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:06:38.368535+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.243",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CPD from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:06:38.197836+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.243",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CPD was added\ngene: CPD was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CPD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPD were set to PMID: 41026541\nPhenotypes for gene: CPD were set to Nonsyndromic genetic hearing loss, MONDO:0019497, CPD-related",
"entity_name": "CPD",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:05:47.399786+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.242",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ATP11A from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:05:47.211720+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.242",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ATP11A was added\ngene: ATP11A was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP11A were set to 35278131; 36300302\nPhenotypes for gene: ATP11A were set to Deafness, autosomal dominant 84, MIM# 619810; Auditory neuropathy, autosomal dominant 2, MIM# 620384",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:05:11.491530+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.242",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ANKRD24 from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:05:11.231346+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.242",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ANKRD24 was added\ngene: ANKRD24 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ANKRD24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANKRD24 were set to PMID: 39434538\nPhenotypes for gene: ANKRD24 were set to sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related",
"entity_name": "ANKRD24",
"entity_type": "gene"
},
{
"created": "2025-11-14T09:04:23.214764+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.241",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ADAMTS1 from panel Deafness_Isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T09:04:22.962015+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.241",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ADAMTS1 was added\ngene: ADAMTS1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ADAMTS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS1 were set to 34135477\nPhenotypes for gene: ADAMTS1 were set to Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related",
"entity_name": "ADAMTS1",
"entity_type": "gene"
},
{
"created": "2025-11-14T08:54:04.872361+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.29",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene QSER1 from panel Fetal anomalies",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-14T08:54:04.480538+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.29",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: QSER1 was added\ngene: QSER1 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature,Literature\nMode of inheritance for gene: QSER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: QSER1 were set to PMID: 41139957\nPhenotypes for gene: QSER1 were set to Neurodevelopmental disorder, MONDO:0700092, QSER1-related",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-14T08:51:57.381358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3549",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: ZNF334 was added\ngene: ZNF334 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF334 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF334 were set to PIMD: 41168503\nPhenotypes for gene: ZNF334 were set to Familial cold autoinflammatory syndrome, MONDO:0018768, ZNF334-related\nReview for gene: ZNF334 was set to RED\nAdded comment: ZNF334 encodes zinc finger protein 334 and function is not clearly defined. \r\n\r\nPMID: 41168503 describes 1 individual with late onset cold induced autoinflammatory disease (urticaria, fever, arthralgia, lymphadenopathy, onset 40 yo) and progressive SNHL. \r\n\r\nFunctional studies indicated reduced interaction ZNF334 and HSP90 (a cold stress regulator protein), monocytic cells lines with truncated ZNF344 showed enhanced cold induced TNF/NFKB1/NLRP3/STAT3 signalling. \r\n\r\nThis variant was truncating NMD escape, however the gene has pLI = 0. \r\nFurther literature is required. \nSources: Literature",
"entity_name": "ZNF334",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:45:10.502093+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:44:43.995368+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Joint stiffness and limitations described as part of the phenotype.; to: Joint stiffness and limitations described as part of the phenotype.",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:44:37.425506+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:44:10.721625+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOK7 as ready",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:44:10.714100+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.465",
"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": "2025-11-13T17:44:03.204003+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOK7 were changed from to Fetal akinesia deformation sequence 3, MIM# 618389; Myasthenic syndrome, congenital, 10, MIM# 254300",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:43:40.164759+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOK7 were set to ",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:43:18.029782+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:42:45.794789+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DOK7: Changed phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389, Myasthenic syndrome, congenital, 10, MIM# 254300",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:42:03.774711+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene DOK7 from panel Multiple pterygium syndrome_Fetal akinesia sequence",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T17:40:47.185870+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLQ as ready",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:40:47.178324+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Amber List (Moderate Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:40:44.140063+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLQ were changed from to Myasthenic syndrome, congenital, 5, MIM# 603034",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:40:14.881618+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLQ were set to ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:39:50.645751+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:39:21.368825+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COLQ as Amber List (moderate evidence)",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:39:21.360933+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Amber List (Moderate Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:38:52.105237+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, more than 10 families reported. However, cannot find reports of presentation with multiple pterygia specifically.; to: Well established gene-disease association, more than 10 families reported. However, cannot find reports of presentation with arthrogryposis specifically, though contractures are common in the Congenital Myasthenic Syndromes, hence Amber rating.",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:37:58.404353+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.457",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene COLQ from panel Multiple pterygium syndrome_Fetal akinesia sequence",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T17:36:02.950671+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:36:02.939652+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Green List (High Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:31:46.523152+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:31:19.773740+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:30:57.090748+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Typically presents with cystic hygroma/hydrops fetalis.; to: Typically presents with cystic hygroma/hydrops fetalis. Arthrogryposis is a feature.",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:30:43.616813+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:28:59.380188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUDT6 were changed from Osteogenesis imperfecta to Osteogenesis imperfecta, MONDO:0019019, NUDT6-related",
"entity_name": "NUDT6",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:28:41.422985+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUDT6 as ready",
"entity_name": "NUDT6",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:28:41.415180+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt6 has been classified as Red List (Low Evidence).",
"entity_name": "NUDT6",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:28:38.336871+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUDT6 were changed from Osteogenesis imperfecta to Osteogenesis imperfecta, MONDO:0019019, NUDT6-related",
"entity_name": "NUDT6",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:26:49.367224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUDT6 as ready",
"entity_name": "NUDT6",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:26:49.359973+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt6 has been classified as Red List (Low Evidence).",
"entity_name": "NUDT6",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:24:15.991558+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QSER1 as ready",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:24:15.984128+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qser1 has been classified as Red List (Low Evidence).",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:23:57.070932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene QSER1 from panel Fetal anomalies",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T17:23:56.649238+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: QSER1 was added\ngene: QSER1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature,Literature\nMode of inheritance for gene: QSER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: QSER1 were set to PMID: 41139957\nPhenotypes for gene: QSER1 were set to Neurodevelopmental disorder, MONDO:0700092, QSER1-related",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:22:47.989178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QSER1 as ready",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:22:47.979142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qser1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:22:39.442919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: QSER1 as Amber List (moderate evidence)",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:22:39.435683+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qser1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:22:15.302512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QSER1 as ready",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:22:15.292264+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qser1 has been classified as Red List (Low Evidence).",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:21:58.411391+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WRAP73 as ready",
"entity_name": "WRAP73",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:21:58.403630+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wrap73 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WRAP73",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:21:17.498398+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene WRAP73 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T17:21:17.342904+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WRAP73 was added\ngene: WRAP73 was added to Eye Anterior Segment Abnormalities. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: WRAP73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WRAP73 were set to 33693649\nPhenotypes for gene: WRAP73 were set to Anterior segment dysgenesis, MONDO:0019503, WRAP73-related",
"entity_name": "WRAP73",
"entity_type": "gene"
},
{
"created": "2025-11-13T17:20:24.307152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WRAP73 were changed from Microsperophakia to Anterior segment dysgenesis, MONDO:0019503, WRAP73-related",
"entity_name": "WRAP73",
"entity_type": "gene"
},
{
"created": "2025-11-13T14:44:36.188088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3545",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: WRAP73: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis, MONDO:0019503, WRAP73-related; Mode of inheritance: None",
"entity_name": "WRAP73",
"entity_type": "gene"
},
{
"created": "2025-11-13T14:41:15.731765+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.467",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: QSER1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 41139957; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, QSER1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T14:40:05.459129+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.467",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T14:39:49.493670+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.467",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene QSER1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T14:39:49.264300+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.467",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: QSER1 was added\ngene: QSER1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: QSER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: QSER1 were set to PMID: 41139957\nPhenotypes for gene: QSER1 were set to Neurodevelopmental disorder, MONDO:0700092, QSER1-related",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T13:02:16.710726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3545",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: QSER1 was added\ngene: QSER1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: QSER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: QSER1 were set to PMID: 41139957\nPhenotypes for gene: QSER1 were set to Neurodevelopmental disorder, MONDO:0700092, QSER1-related\nReview for gene: QSER1 was set to AMBER\nAdded comment: QSER1 encodes glutamine and serine rich protein 1 of which the function is not clearly defined however is thought to have a role in methylation. \r\n\r\nPMID: 41139957 describes 3 individuals with de novo heterozygous variants in QSER1 without clear consistent phenotypes. \r\n2 individuals were born at less than 26 weeks with developmental delay with the individual that was born at term found to have normal development. Other associated features noted were ophthalmologic abnormalities (2), genitourinary abnormalities (2), congenital cardiac abnormalities (2), hemiparesis/gait abnormalities (1), preaxial polydactyly (1). \r\n\r\nVariant types included frameshift and splice site. \r\nOne variant was present in 3 hets in gnomAD v4 with the others absent. \r\n\r\nFunctional studies demonstrated widespread expression of the protein in zebrafish without further experiments to examine molecular mechanism of variants or downstream effects. \nSources: Literature",
"entity_name": "QSER1",
"entity_type": "gene"
},
{
"created": "2025-11-13T12:39:35.169110+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SOX3 as Green List (high evidence)",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2025-11-13T12:39:35.157673+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Green List (High Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2025-11-13T12:39:28.859460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3544",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SOX3 as Green List (high evidence)",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2025-11-13T12:39:28.849660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3544",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Green List (High Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2025-11-13T12:39:00.482469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3543",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SOX3 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:38:47.600320+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.76",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SOX3 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:34:36.891026+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.75",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene THRB from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:34:07.098794+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.74",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene THRA from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:33:35.954078+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.73",
"user_name": "Chirag Patel",
"item_type": "panel",
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{
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]
}