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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2014",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2012",
"results": [
{
"created": "2020-01-02T15:23:34.500954+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:23:23.656807+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:22:48.162084+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJB1 was changed from Unknown to Other",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:22:21.296537+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:22:00.497549+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJB1 as Amber List (moderate evidence)",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:22:00.431610+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:21:29.890779+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:14:38.030858+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment on publications: Another six individuals reported in 17503324, though in one digenic inheritance was suggested.",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:14:37.979266+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXI1 were set to 29242249; 9843211",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:00:20.512008+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIAPH3 as ready",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:00:20.506785+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Additional family identified (PMID 27658576), promoted to Amber. Same variant.",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2020-01-02T15:00:20.477231+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:59:30.332591+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DIAPH3 were set to 23441200; 20624953",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:59:06.140863+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIAPH3 as Amber List (moderate evidence)",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:59:06.127832+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:57:15.781570+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIABLO as ready",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:57:15.776437+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Additional publication identified, promoted to Amber.",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:57:15.727961+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diablo has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:57:12.737546+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DIABLO were set to 21722859; 10929711",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:56:11.961159+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIABLO as Amber List (moderate evidence)",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:56:11.946369+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diablo has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:55:52.401901+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIABLO as Amber List (moderate evidence)",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:55:51.890735+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diablo has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:40:20.146364+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC50 as ready",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:40:20.139964+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Additional family identified, classification changed to Green.",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:40:20.090715+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc50 has been classified as Green List (High Evidence).",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:40:16.560099+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC50 were set to 17503326; 27911912; 24875298",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:39:54.086522+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC50 were set to 17503326; 27911912",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:39:15.884975+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC50 as Green List (high evidence)",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:39:15.872166+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc50 has been classified as Green List (High Evidence).",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:36:06.383470+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CATSPER2 as ready",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:36:06.370795+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: catsper2 has been classified as Red List (Low Evidence).",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:36:01.547483+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CATSPER2 as Red List (low evidence)",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:36:01.534912+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: catsper2 has been classified as Red List (Low Evidence).",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:35:28.322367+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CATSPER2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:31:59.332189+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIFM1 as ready",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:31:59.318681+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aifm1 has been classified as Green List (High Evidence).",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:31:40.519313+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIFM1 were changed from to Deafness, X-linked 5, MIM# 300614",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:31:15.835645+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIFM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:29:57.763590+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIFM1 were set to ",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:29:33.756050+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:28:59.694292+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25986071; Phenotypes: Deafness, X-linked 5, MIM# 300614; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:05:44.107109+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATC1L as ready",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:05:44.096221+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spatc1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:05:34.942559+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPATC1L as Amber List (moderate evidence)",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:05:34.929357+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spatc1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T14:04:28.790943+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATC1L was added\ngene: SPATC1L was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: SPATC1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATC1L were set to 30177775\nPhenotypes for gene: SPATC1L were set to Deafness\nReview for gene: SPATC1L was set to AMBER\nAdded comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of hearing loss described, some functional data. \nSources: Expert list",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:59:57.187025+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATC1L as ready",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:59:57.173647+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spatc1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:59:31.845118+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPATC1L as Amber List (moderate evidence)",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:59:31.832135+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spatc1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:59:00.906205+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATC1L was added\ngene: SPATC1L was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: SPATC1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPATC1L were set to 30177775\nPhenotypes for gene: SPATC1L were set to Deafness\nReview for gene: SPATC1L was set to AMBER\nAdded comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of hearing loss described, some functional data. \nSources: Expert list",
"entity_name": "SPATC1L",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:49:53.413438+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:49:53.400762+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:49:48.745759+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPATA5 as Green List (high evidence)",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:49:48.734638+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:49:15.441597+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATA5 was added\ngene: SPATA5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5 were set to 26299366\nPhenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM#\t616577\nReview for gene: SPATA5 was set to GREEN\nAdded comment: 14 children from 10 families reported, deafness is part of the phenotype. \nSources: Expert list",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:35:07.856464+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A2 as ready",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:35:07.843676+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:34:58.211380+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC52A2 as Green List (high evidence)",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:34:58.198237+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:34:23.476059+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM#\t614707\nReview for gene: SLC52A2 was set to GREEN\nAdded comment: Deafness is part of the phenotype. \nSources: Expert list",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:31:03.683255+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SLC25A6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-02T13:30:09.481315+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A5 as ready",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:30:09.469547+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:30:02.377153+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A5 was added\ngene: SLC26A5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: SLC26A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC26A5 were set to 24164807\nPhenotypes for gene: SLC26A5 were set to Deafness, autosomal recessive 61, MIM#\t613865\nReview for gene: SLC26A5 was set to RED\nAdded comment: Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379). \nSources: Expert list",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:23:10.427167+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:23:10.414488+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:23:06.510681+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGPL1 as Green List (high evidence)",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:23:06.498308+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:22:31.015697+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGPL1 was added\ngene: SGPL1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to 28181337; 28165339; 28165343\nPhenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM#\t617575\nReview for gene: SGPL1 was set to GREEN\nAdded comment: Deafness is part of the phenotype. \nSources: Expert list",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:18:22.110671+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERAC1 as ready",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:18:22.098526+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serac1 has been classified as Green List (High Evidence).",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:18:18.331888+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SERAC1 as Green List (high evidence)",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:18:18.319486+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serac1 has been classified as Green List (High Evidence).",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2020-01-02T13:17:43.265247+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM#\t614739\nReview for gene: SERAC1 was set to GREEN\nAdded comment: Deafness is a common part of the phenotype of this metabolic condition. \nSources: Expert list",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2020-01-02T10:11:47.649783+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICK as ready",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-01-02T10:11:47.638176+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ick has been classified as Red List (Low Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-01-02T10:11:35.773701+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ICK was added\ngene: ICK was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list\nMode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICK were set to 19185282; 27069622\nPhenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, MIM#\t612651\nReview for gene: ICK was set to RED\nAdded comment: 6 affected individuals from 2 Amish families reported originally (founder effect); another Turkish family reported since. However, renal cysts only reported in the Amish families, emerging ciliopathy gene, renal phenotype remains to be elucidated. \nSources: Expert list",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:54:45.720843+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP2 as ready",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:54:45.708942+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:54:37.967564+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WBP2 as Amber List (moderate evidence)",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:54:37.955412+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:54:18.285577+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WBP2 was added\ngene: WBP2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WBP2 were set to 26881968\nPhenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM#\t617639\nReview for gene: WBP2 was set to AMBER\nAdded comment: Two unrelated families identified in a large cohort; supportive animal model data. \nSources: Expert list",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:54:10.812191+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WBP2 were changed from Deafness, autosomal recessive 107, MIM3\t617639 to Deafness, autosomal recessive 107, MIM#\t617639",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:52:00.187199+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP2 as ready",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:52:00.175028+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:51:27.545586+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WBP2 as Amber List (moderate evidence)",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:51:27.533490+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:50:51.433765+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WBP2 was added\ngene: WBP2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WBP2 were set to 26881968\nPhenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM3\t617639\nReview for gene: WBP2 was set to AMBER\nAdded comment: Two unrelated families identified in a large cohort; supportive animal model data. \nSources: Expert list",
"entity_name": "WBP2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:48:05.077626+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM132E as ready",
"entity_name": "TMEM132E",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:48:05.065112+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem132e has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM132E",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:47:55.240054+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM132E as Amber List (moderate evidence)",
"entity_name": "TMEM132E",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:47:55.228931+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem132e has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM132E",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:47:36.280889+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM132E was added\ngene: TMEM132E was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM132E were set to 25331638\nPhenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM#\t618481\nReview for gene: TMEM132E was set to AMBER\nAdded comment: Single family reported, supportive animal model. \nSources: Expert list",
"entity_name": "TMEM132E",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:45:12.704019+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM132E as ready",
"entity_name": "TMEM132E",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:45:12.690355+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem132e has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM132E",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:45:08.109702+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM132E as Amber List (moderate evidence)",
"entity_name": "TMEM132E",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:45:08.097721+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem132e has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM132E",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:44:33.908713+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM132E was added\ngene: TMEM132E was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM132E were set to 25331638\nPhenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM#\t618481\nReview for gene: TMEM132E was set to AMBER\nAdded comment: Single family reported, supportive animal model. \nSources: Expert list",
"entity_name": "TMEM132E",
"entity_type": "gene"
}
]
}