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{
"count": 220966,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=708",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=706",
"results": [
{
"created": "2022-10-25T18:30:08.579365+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHM as Red List (low evidence)",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2022-10-25T18:30:08.571341+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chm has been classified as Red List (Low Evidence).",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2022-10-25T18:29:57.139489+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideraemia MIM#303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:15:12.870221+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.150",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DVL3 was added\ngene: DVL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DVL3 were set to 25577943\nPhenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3-MIM#616894\nReview for gene: DVL3 was set to GREEN\nAdded comment: Detection of short stature antenatally and mesomelia at birth reported. \nSources: Literature",
"entity_name": "DVL3",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:10:31.466593+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHKB as ready",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:10:31.453850+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chkb has been classified as Red List (Low Evidence).",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:10:28.285707+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type to Muscular dystrophy, congenital, megaconial type, MIM# 602541",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:10:15.576623+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHKB as Red List (low evidence)",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:10:15.569262+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chkb has been classified as Red List (Low Evidence).",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:10:03.451202+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:09:21.176192+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.150",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DVL1 was added\ngene: DVL1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: DVL1 were set to 25817014; 25817016\nPhenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 (MIM#616331)\nReview for gene: DVL1 was set to GREEN\ngene: DVL1 was marked as current diagnostic\nAdded comment: Previous review by Belinda Chong:\r\n\r\nOnset at birth - Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly . Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2.\r\n\r\nOnly variants that result in truncation (located in the final 2 exons) have been reported as pathogenic. Pathogenic truncating variants that escape NMD have been shown to result in a gain of function with increased canonical WNT activity. The paternal allele is predicted to be imprinted, with the maternal allele expressed (geneimprint.com), however reports so far have been for de novo variants. \nSources: Literature",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:08:19.601152+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD2 as ready",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:08:19.593347+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd2 has been classified as Red List (Low Evidence).",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:08:16.228675+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD2 were changed from Developmental delay, intellectual disability, epilepsy to Epileptic encephalopathy, childhood-onset (MIM # 615369)",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:07:50.266834+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD2 as Red List (low evidence)",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:07:50.255763+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd2 has been classified as Red List (Low Evidence).",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:07:38.259039+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, childhood-onset (MIM # 615369); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:06:16.594867+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFP as ready",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:06:16.584538+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfp has been classified as Green List (High Evidence).",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:06:07.415595+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:04:33.149904+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFL2 as ready",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:04:33.139998+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfl2 has been classified as Red List (Low Evidence).",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:04:29.127415+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFL2 were changed from Nemaline myopathy to Nemaline myopathy 7, autosomal recessive, MIM# 610687",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:04:15.595422+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFL2 as Red List (low evidence)",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:04:15.585962+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfl2 has been classified as Red List (Low Evidence).",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2022-10-25T17:04:05.167462+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2022-10-25T16:59:22.518086+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.150",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DNMT3A was added\ngene: DNMT3A was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNMT3A were set to 30478443\nReview for gene: DNMT3A was set to AMBER\nAdded comment: Two allelic syndromes, with LOF variants causing an overgrowth syndrome, and GOF variants causimg a primordial dwarfism syndrome.\r\n\r\nThe primordial dwarfism phenotype is associated with proportionate IUGR antenatally with more evident postnatal growth failure and microcephaly. \nSources: Literature",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:30:23.193056+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.632",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SERPINA1 as ready",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:30:23.184230+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.632",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: serpina1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:29:59.634551+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.632",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency to Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:29:37.022834+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.631",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SERPINA1 as Amber List (moderate evidence)",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:29:37.012658+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.631",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: serpina1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:29:26.123873+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.630",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SERPINA1.",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:29:10.553242+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.630",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SERPINA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:29:10.541195+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFC1 as ready",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:29:10.529086+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Red List (Low Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:29:07.145678+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFC1 were changed from Congenital heart defects to Heterotaxy, visceral, 2, autosomal MIM#605376",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:28:54.516966+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFC1 as Red List (low evidence)",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:28:54.509133+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Red List (Low Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:28:43.313074+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 2, autosomal MIM#605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:25:27.877336+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:25:27.867894+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Red List (Low Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:25:22.239991+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP83 as Red List (low evidence)",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:25:22.231285+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Red List (Low Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:25:10.420557+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP83: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:19:25.669563+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:19:25.661093+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Red List (Low Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:19:20.503842+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP290 were changed from Joubert syndrome to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:19:06.684198+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP290 as Red List (low evidence)",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:19:06.671808+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Red List (Low Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:18:54.555823+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP290: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:17:53.278743+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.625",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SELENON as ready",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:17:53.268118+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.625",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: selenon has been classified as Red List (Low Evidence).",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:17:38.240413+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.625",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion to Myopathy, congenital, with fiber-type disproportion, MIM# 255310",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:17:27.238644+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.624",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:16:58.152791+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.623",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SELENON as Red List (low evidence)",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:16:58.142107+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.623",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: selenon has been classified as Red List (Low Evidence).",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-10-25T13:16:43.931819+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.622",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:45:16.471417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.421",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maturity-onset diabetes of the young, type IX - MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:42:56.617715+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.30",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maturity-onset diabetes of the young, type IX - MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:38:52.771144+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.166",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32335906, 33586461, 30442288, 28991257; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2022-10-24T20:48:42.566662+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-10-24T20:48:42.558148+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-10-24T20:48:39.212052+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCE were changed from Combined immune deficiency with syndromic features to Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-10-24T20:48:03.515183+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBCE as Green List (high evidence)",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-10-24T20:48:03.506480+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:53:50.447599+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:52:00.332535+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:52:00.324988+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Red List (Low Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:51:56.949446+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VCP were changed from Inclusion body myopathy with early-onset paget disease and frontotemporal dementia to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Charcot-Marie-Tooth disease, type 2Y, MIM# 616687",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:51:34.218027+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VCP were set to ",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:51:18.865523+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VCP as Red List (low evidence)",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:51:18.845204+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Red List (Low Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:51:01.769404+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2Y, MIM# 616687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:40:52.746582+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VDR as ready",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:40:52.738865+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vdr has been classified as Green List (High Evidence).",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:40:47.949399+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VDR were changed from Vitamin D-dependent rickets to Rickets, vitamin D-resistant, type IIA MIM#277440",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:40:37.386553+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VDR were set to ",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:40:18.151691+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: VDR.",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:39:54.254792+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VHL as ready",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:39:54.231529+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vhl has been classified as Green List (High Evidence).",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:39:47.985635+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VHL were set to ",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:39:29.223525+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome to von Hippel-Lindau syndrome MIM#193300",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:39:16.599441+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: VHL.",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:35:54.613347+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LTBP3 as Green List (high evidence)",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:35:54.604301+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp3 has been classified as Green List (High Evidence).",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:33:30.387669+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDB3 as ready",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:33:30.379267+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldb3 has been classified as Green List (High Evidence).",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:33:22.135329+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDB3 were changed from Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C to Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:33:10.576463+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LDB3 were set to ",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:33:02.610273+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:32:56.187651+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LDB3 as Green List (high evidence)",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:32:56.178692+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldb3 has been classified as Green List (High Evidence).",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:32:46.254511+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:31:02.431243+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN5 as Green List (high evidence)",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:31:02.420503+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn5 has been classified as Green List (High Evidence).",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:29:36.291281+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR24 as ready",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:29:36.281537+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr24 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:29:29.929036+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHCR24 as Amber List (moderate evidence)",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2022-10-24T18:29:29.919189+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr24 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHCR24",
"entity_type": "gene"
}
]
}