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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1356",
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"results": [
{
"created": "2021-04-12T15:45:20.050369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7124",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Green List (High Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:45:18.435153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3641",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: NCDN was added\ngene: NCDN was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NCDN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NCDN were set to 33711248\nPhenotypes for gene: NCDN were set to neurodevelopmental delay, intellectual disability, and epilepsy\nPenetrance for gene: NCDN were set to unknown\nAdded comment: 4x families all missense and de novo except for 1 consag family where 3 affecteds were homozygous and carrier parents unaffected\r\n\r\nID ranged from mild to severe\r\n3/4 probands had seizures\r\nonly 3 affecteds had MRI done, with 1 delayed myelination\r\n\r\nin vitro studies were done \nSources: Literature",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:44:21.185323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7123",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SYK as ready",
"entity_name": "SYK",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:44:21.162368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7123",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: syk has been classified as Green List (High Evidence).",
"entity_name": "SYK",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:44:09.991372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7123",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SYK as Green List (high evidence)",
"entity_name": "SYK",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:44:09.980917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7123",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: syk has been classified as Green List (High Evidence).",
"entity_name": "SYK",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:43:09.029260+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.55",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SERPINH1 as ready",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:43:09.013889+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.55",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: serpinh1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:43:01.434980+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.0",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: CTNNA1 was added\ngene: CTNNA1 was added to Vitreoretinopathy. Sources: Literature\nMode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTNNA1 were set to 33497368\nPhenotypes for gene: CTNNA1 were set to Familial exudative vitreoretinopathy\nReview for gene: CTNNA1 was set to GREEN\nAdded comment: Three independent families reported with familial exudative vitreoretinopathy (FEVR) \nSources: Literature",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:42:34.729835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7122",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NCDN as ready",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:42:34.720202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7122",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ncdn has been classified as Green List (High Evidence).",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:42:20.278257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7122",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NCDN as Green List (high evidence)",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:42:20.266992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7122",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ncdn has been classified as Green List (High Evidence).",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:41:52.184105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7121",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TSPOAP1 was added\ngene: TSPOAP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSPOAP1 were set to 33539324\nPhenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy\nPenetrance for gene: TSPOAP1 were set to unknown\nReview for gene: TSPOAP1 was set to GREEN\nAdded comment: 7 affecteds from 3 families (1 consanguineous)\r\n2x null, 1x missense\r\n\r\nAffecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted)\r\n\r\nmice KO models were investigated \nSources: Literature",
"entity_name": "TSPOAP1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:35:30.665475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7121",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33720042; Phenotypes: Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:33:06.217904+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.78",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SYK was added\ngene: SYK was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SYK were set to 33782605\nPhenotypes for gene: SYK were set to Immune dysregulation and systemic inflammation\nMode of pathogenicity for gene: SYK was set to Other\nReview for gene: SYK was set to GREEN\ngene: SYK was marked as current diagnostic\nAdded comment: 5 unrelated patients with monoallelic missense variants in SYK with immune deficiency, multi-organ inflammatory disease such as colitis, arthritis and dermatitis, and diffuse large B cell lymphomas. 2 patients were confirmed de novo, others were undetermined. Variants exhibited a GoF effect in functional studies. A knock-in mouse model of a patient variant recapitulated aspects of the human disease. \nSources: Literature",
"entity_name": "SYK",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:31:49.736334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7121",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: CLDN11 was added\ngene: CLDN11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN11 were set to 33313762\nPhenotypes for gene: CLDN11 were set to Hypomyelinating leukodystrophy\nReview for gene: CLDN11 was set to GREEN\nAdded comment: In three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia, 2 different heterozygous de novo stop-loss variants were identified. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. \nSources: Literature",
"entity_name": "CLDN11",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:30:17.384239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7121",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SYK was added\ngene: SYK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SYK were set to 33782605\nPhenotypes for gene: SYK were set to Immune dysregulation and systemic inflammation\nMode of pathogenicity for gene: SYK was set to Other\nReview for gene: SYK was set to GREEN\ngene: SYK was marked as current diagnostic\nAdded comment: 5 unrelated patients with monoallelic missense variants in SYK with immune deficiency, multi-organ inflammatory disease such as colitis, arthritis and dermatitis, and diffuse large B cell lymphomas. 2 patients were confirmed de novo, others were undetermined. Variants exhibited a GoF effect in functional studies. A knock-in mouse model of a patient variant recapitulated aspects of the human disease. \nSources: Literature",
"entity_name": "SYK",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:23:46.778504+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.55",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33524049; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:20:48.853255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7121",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: NCDN was added\ngene: NCDN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NCDN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NCDN were set to 33711248\nPhenotypes for gene: NCDN were set to neurodevelopmental delay, intellectual disability, and epilepsy\nPenetrance for gene: NCDN were set to unknown\nReview for gene: NCDN was set to GREEN\nAdded comment: 4x families all missense and de novo except for 1 consag family where 3 affecteds were homozygous and carrier parents unaffected\r\n\r\nID ranged from mild to severe\r\n3/4 probands had seizures\r\nonly 3 affecteds had MRI done, with 1 delayed myelination\r\n\r\nin vitro studies were done \nSources: Literature",
"entity_name": "NCDN",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:49:02.876685+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX1 as ready",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:49:02.863338+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Green List (High Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:48:58.406594+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome, MIM# 188400",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:48:26.550921+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:47:59.540504+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TBX1.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:47:50.779236+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: DiGeorge syndrome, MIM# 188400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:26:39.297321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A5 as ready",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:26:39.287169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:26:30.223503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC5A5 were changed from to Thyroid dyshormonogenesis 1, MIM# 274400; MONDO:0020716",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:26:11.406382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC5A5 were set to ",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:25:53.267007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC5A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:25:36.181676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC5A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9745458, 9171822, 33815280, 32319661; Phenotypes: Thyroid dyshormonogenesis 1, MIM# 274400, MONDO:0020716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:22:37.498606+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A5 as ready",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:22:37.487884+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:22:32.888956+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC5A5 were changed from to Thyroid dyshormonogenesis 1, MIM# 274400",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:22:00.376284+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC5A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:21:28.490818+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A5 as Amber List (moderate evidence)",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:21:28.480805+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T13:20:52.193134+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC5A5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 1, MIM# 274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2021-04-12T10:57:04.830097+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.63",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7971833: 23889995, 23798481; Phenotypes: myopathy, immunodeficiency, cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-04-12T10:51:01.819775+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.63",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "gene: RBCK1 was added\ngene: RBCK1 was added to Cardiomyopathy_Paediatric. Sources: Other\nMode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBCK1 were set to PMID: 7971833\nPenetrance for gene: RBCK1 were set to Complete",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:19:30.975909+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28434495; Phenotypes: Intellectual developmental disorder with neuropsychiatric features, MIM# 617532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:18:50.742924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC45A1 as ready",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:18:50.733804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc45a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:18:41.454254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:18:21.863526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC45A1 were set to ",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:18:03.760570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC45A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:17:46.448377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC45A1 as Amber List (moderate evidence)",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:17:46.438631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc45a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:17:29.295480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28434495; Phenotypes: Intellectual developmental disorder with neuropsychiatric features, MIM# 617532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:16:39.182077+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC45A1 as ready",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:16:39.165735+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc45a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:16:10.756116+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:15:39.386919+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC45A1 were set to ",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:15:12.870178+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC45A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:14:41.240436+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC45A1 as Amber List (moderate evidence)",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:14:41.229169+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc45a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:14:09.203503+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28434495; Phenotypes: Intellectual developmental disorder with neuropsychiatric features, MIM# 617532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:09:49.140835+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A2 as ready",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:09:49.130880+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:09:43.338740+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome, MIM# 227810",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:09:09.249094+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:08:43.622143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC2A2 as Amber List (moderate evidence)",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:08:43.612087+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2021-04-11T19:08:16.167599+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2021-04-11T18:47:01.887401+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R2 as ready",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-04-11T18:47:01.876113+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r2 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-04-11T18:46:55.560239+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-04-11T18:46:30.105937+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3R2 were set to ",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-04-11T18:45:58.271691+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-04-11T18:45:25.162640+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22729224, 23745724, 33604570; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:50:36.481602+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP3 as ready",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:50:36.472233+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp3 has been classified as Green List (High Evidence).",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:50:31.147125+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:50:16.571699+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP3 were set to 18371931",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:49:57.835309+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP3 were set to ",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:49:30.188275+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:01:30.803617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESP1 as ready",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:01:30.794863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:01:11.330728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MESP1 as Amber List (moderate evidence)",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:01:11.320555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:00:54.809500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MESP1 was added\ngene: MESP1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MESP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MESP1 were set to 28677747; 28050627; 27185833; 26694203\nPhenotypes for gene: MESP1 were set to Congenital heart disease\nReview for gene: MESP1 was set to AMBER\nAdded comment: Rare/novel variants reported in at least 7 unrelated individuals with congenital heart disease, in-silicos conflicting, familial segregation only available for some (one de novo, three inherited, others unresolved). Functional data implicates gene in cardiac development. \nSources: Expert list",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:00:40.374321+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESP1 as ready",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:00:40.364499+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T17:00:36.702837+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MESP1 were changed from to Congenital heart disease",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T16:59:22.550713+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MESP1 were set to ",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T16:58:45.621171+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MESP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T16:58:17.869716+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MESP1 as Amber List (moderate evidence)",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T16:58:17.858415+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-11T16:57:45.691717+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MESP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28677747, 28050627, 27185833, 26694203; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MESP1",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:52:27.077519+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR2 as ready",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:52:27.066026+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:52:22.591315+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410; Apert syndrome, MIM# 101200",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:51:55.946998+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:51:24.948696+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGFR2 as Amber List (moderate evidence)",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:51:24.939102+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:50:53.483540+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410, Apert syndrome, MIM# 101200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:20:45.450702+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP27A1 as ready",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:20:45.440384+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Red List (Low Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-04-10T20:20:39.506767+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, MIM# 213700",
"entity_name": "CYP27A1",
"entity_type": "gene"
}
]
}