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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2086",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2084",
"results": [
{
"created": "2019-11-24T13:27:27.447083+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-11-24T13:22:07.366062+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen",
"panel_id": 193,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-11-24T13:20:22.864829+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-11-24T13:07:41.891023+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26092869, 21763481; Phenotypes: Joubert syndrome 34, MIM#614175, Meckel syndrome 10, MIM#614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2019-11-24T13:00:28.416081+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886560, 21493627; Phenotypes: Joubert syndrome 27, MIM#617120, Meckel syndrome 9, MIM#614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2019-11-24T08:47:13.737165+11:00",
"panel_name": "Congenital Disorders of Glycosylation_VCGS",
"panel_id": 68,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALT1 as ready",
"entity_name": "B4GALT1",
"entity_type": "gene"
},
{
"created": "2019-11-24T08:47:13.729426+11:00",
"panel_name": "Congenital Disorders of Glycosylation_VCGS",
"panel_id": 68,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galt1 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT1",
"entity_type": "gene"
},
{
"created": "2019-11-24T08:47:02.611554+11:00",
"panel_name": "Congenital Disorders of Glycosylation_VCGS",
"panel_id": 68,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "B4GALT1",
"entity_type": "gene"
},
{
"created": "2019-11-24T07:48:21.838817+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT1",
"entity_type": "gene"
},
{
"created": "2019-11-24T07:33:14.116016+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2019-11-24T07:29:34.631013+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2019-11-23T21:12:45.881648+11:00",
"panel_name": "Renal tubulointerstitial disease_KidGen_VCGS",
"panel_id": 199,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ATP6V0A4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-23T21:12:40.954103+11:00",
"panel_name": "Renal tubulointerstitial disease_KidGen_VCGS",
"panel_id": 199,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:AQP2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-23T21:10:59.267439+11:00",
"panel_name": "Renal cystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ALMS1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-23T21:10:53.474258+11:00",
"panel_name": "Renal cystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ACTN4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-23T21:00:55.427622+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE1 as ready",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T21:00:55.418736+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Red List (Low Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T21:00:37.057113+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYNE1 as Red List (low evidence)",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T21:00:37.048184+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Red List (Low Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T21:00:09.741943+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNE1: Rating: RED; Mode of pathogenicity: None; Publications: 23352163; Phenotypes: Autism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:55:04.481515+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE1 as ready",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:55:04.473356+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Green List (High Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:54:59.111896+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYNE1 as Green List (high evidence)",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:54:59.100408+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Green List (High Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:52:37.707669+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYNE1 was added\ngene: SYNE1 was added to Arthrogryposis_VCGS. Sources: Literature\nMode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SYNE1 were set to 27782104\nPhenotypes for gene: SYNE1 were set to Distal arthrogryposis\nReview for gene: SYNE1 was set to GREEN\nAdded comment: Three families reported with bi-allelic distal truncating variants in this gene (KASH domain). This appears to be a specific genotype-phenotype correlation with variants elsewhere in the gene causing different phenotypes. \nSources: Literature",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:43:28.306434+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AVPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:41:39.152373+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AVPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AVPR1A",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:39:00.661803+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AVP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal, MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:37:05.137530+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 10, MIM#603516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:31:08.432285+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP8A2: Rating: ; Mode of pathogenicity: None; Publications: 22892528, 31612321; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:18:12.964279+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6AP1 was added\ngene: ATP6AP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP6AP1 were set to 27231034\nPhenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972\nReview for gene: ATP6AP1 was set to GREEN\ngene: ATP6AP1 was marked as current diagnostic\nAdded comment: 11 males from 6 unrelated families with primarily an immunodeficiency disorder; six patients from 3 families who carried the same variant (E346K) had neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities \nSources: Expert list",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:12:30.860513+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP2B3: Rating: RED; Mode of pathogenicity: None; Publications: 22912398, 27653636; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: None",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:05:57.272046+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP2A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Darier disease, MIM#124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2019-11-23T20:00:37.777503+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 2, MIM#614820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2019-11-23T19:56:35.124343+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP10A: Rating: RED; Mode of pathogenicity: None; Publications: 31696658; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP10A",
"entity_type": "gene"
},
{
"created": "2019-11-23T19:47:46.732055+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATAD1 was added\ngene: ATAD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD1 were set to 28180185\nPhenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011\nReview for gene: ATAD1 was set to GREEN\ngene: ATAD1 was marked as current diagnostic\nAdded comment: Severe progressive neurological disorder, severe/profound intellectual disability is a feature \nSources: Expert list",
"entity_name": "ATAD1",
"entity_type": "gene"
},
{
"created": "2019-11-23T19:39:03.952212+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASTN1 was added\ngene: ASTN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASTN1 were set to 29706646; 27431290; 26539891\nReview for gene: ASTN1 was set to GREEN\ngene: ASTN1 was marked as current diagnostic\nAdded comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation. \nSources: Expert list",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2019-11-23T19:26:45.780104+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Asparagine synthetase deficiency, MIM#615574; Mode of inheritance: None",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2019-11-23T19:20:03.134908+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria, MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2019-11-23T19:16:10.534844+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASH1L was added\ngene: ASH1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASH1L were set to 23033978; 25961944; 28394464; 28191889; 27824329\nPhenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796\nReview for gene: ASH1L was set to GREEN\ngene: ASH1L was marked as current diagnostic\nAdded comment: Multiple cases with de novo variants and intellectual disability reported as part of large cohorts identifying multiple candidate genes. \nSources: Expert list",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2019-11-23T19:09:22.110893+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24022475; Phenotypes: Webb-Dattani syndrome 615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARNT2",
"entity_type": "gene"
},
{
"created": "2019-11-23T19:04:35.279885+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2019-11-23T18:31:12.829034+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2019-11-23T18:26:19.794320+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia, MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2019-11-23T18:20:42.164482+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 1, MIM#136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2019-11-23T18:17:07.405749+11:00",
"panel_name": "Frontonasal dysplasia_VCGS",
"panel_id": 104,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALX1 as ready",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2019-11-23T18:17:07.397728+11:00",
"panel_name": "Frontonasal dysplasia_VCGS",
"panel_id": 104,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alx1 has been classified as Green List (High Evidence).",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2019-11-23T18:16:55.364819+11:00",
"panel_name": "Frontonasal dysplasia_VCGS",
"panel_id": 104,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2019-11-23T18:15:11.006626+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2019-11-23T18:08:10.192607+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending, MIM#607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2019-11-23T15:49:49.724206+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABAT: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2019-11-23T15:37:47.411632+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADD3 as ready",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2019-11-23T15:37:47.404139+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Green List (High Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2019-11-23T15:37:39.484571+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADD3 as Green List (high evidence)",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2019-11-23T15:37:39.475056+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Green List (High Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2019-11-23T15:37:17.643996+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADD3 was added\ngene: ADD3 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADD3 were set to 29768408; 23836506\nPhenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3, MIM#617008\nAdded comment: Four families reported in the literature with bi-allelic variants in this gene causing intellectual disability. \nSources: Expert list",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:47:22.039897+11:00",
"panel_name": "Congenital Disorders of Glycosylation_VCGS",
"panel_id": 68,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 30221345, 23404334, 28733338; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:30:27.072236+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG14: Added comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.; Changed rating: GREEN; Changed publications: 30221345, 23404334, 28733338",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:26:40.211948+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:22:34.564391+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM#229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:19:11.225099+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease XII, MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:13:21.371596+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 8, MIM#614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AKR1C2",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:11:00.366917+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:09:31.847125+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGTR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AGTR2",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:07:06.837141+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2019-11-23T14:04:48.268996+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM#600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:57:35.363774+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:49:06.675227+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AGGF1",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:46:11.711985+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM#208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:44:16.459063+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM#614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:26:35.597744+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29768408, 23836506; Phenotypes: Cerebral palsy, spastic quadriplegic, 3, MIM#617008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:20:11.302348+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM#606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:17:47.117338+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286; Phenotypes: Mental retardation, autosomal recessive 36, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:13:27.669465+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM#231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:06:24.826725+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 1, recessive, MIM#277600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:04:10.929615+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2019-11-23T13:01:15.301763+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTA1: Rating: RED; Mode of pathogenicity: None; Publications: 21514153; Phenotypes: Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800, Nemaline myopathy 3, MIM#161800, Myopathy, actin, congenital, with cores, MIM#161800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2019-11-23T12:52:27.461054+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolemia 2, MIM#618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-11-23T12:48:21.557433+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM#614473, Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2019-11-23T12:43:28.257635+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABAT: Rating: ; Mode of pathogenicity: None; Publications: 10407778, 20052547, 27596361, 28411234,; Phenotypes: GABA-transaminase deficiency, MIM#613163; Mode of inheritance: None",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2019-11-23T12:37:54.826083+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:24.359432+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB11 was added\ngene: ZBTB11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: ZBTB11 was set to Unknown",
"entity_name": "ZBTB11",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:23.965836+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YY1 was added\ngene: YY1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: YY1 was set to Unknown",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:23.463338+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YWHAG was added\ngene: YWHAG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: YWHAG was set to Unknown",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:23.072095+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XRCC4 was added\ngene: XRCC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: XRCC4 was set to Unknown",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:22.575609+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XIST was added\ngene: XIST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: XIST was set to Unknown",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:22.161135+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR73 was added\ngene: WDR73 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: WDR73 was set to Unknown",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:21.664506+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR45B was added\ngene: WDR45B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: WDR45B was set to Unknown",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:21.263917+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDFY3 was added\ngene: WDFY3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: WDFY3 was set to Unknown",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:20.769605+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WAC was added\ngene: WAC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: WAC was set to Unknown",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:20.371223+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VARS2 was added\ngene: VARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: VARS2 was set to Unknown",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:19.861263+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAMP1 was added\ngene: VAMP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: VAMP1 was set to Unknown",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:19.468844+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP18 was added\ngene: USP18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: USP18 was set to Unknown",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:18.962357+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UNC13A was added\ngene: UNC13A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: UNC13A was set to Unknown",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:18.574133+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBTF was added\ngene: UBTF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: UBTF was set to Unknown",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:18.101734+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBR4 was added\ngene: UBR4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: UBR4 was set to Unknown",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:17.665608+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBA5 was added\ngene: UBA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: UBA5 was set to Unknown",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:17.160793+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TXNL4A was added\ngene: TXNL4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: TXNL4A was set to Unknown",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:16.768570+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBG1 was added\ngene: TUBG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: TUBG1 was set to Unknown",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2019-11-22T21:34:16.276517+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBB2A was added\ngene: TUBB2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: TUBB2A was set to Unknown",
"entity_name": "TUBB2A",
"entity_type": "gene"
}
]
}