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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1407",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1405",
"results": [
{
"created": "2021-02-18T14:49:21.698381+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNA11 was added\ngene: GNA11 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNA11 were set to 26778290\nPhenotypes for gene: GNA11 were set to Extensive dermal melanocytosis; Phakomatosis pigmentovascularis",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.657020+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR3 was added\ngene: FGFR3 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR3 were set to 22499344; 16841094\nPhenotypes for gene: FGFR3 were set to Epidermal naevi; Syringocystadenoma papilliferum",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.615912+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR1 were set to 26942290\nPhenotypes for gene: FGFR1 were set to Epidermal naevi",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.570543+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT1 was added\ngene: AKT1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT1 were set to 33030203; 21793738\nPhenotypes for gene: AKT1 were set to Proteus syndrome",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.524354+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTB were set to 28347698",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.494797+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Mosaic skin disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-18T12:51:39.276469+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.125",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32548275; Phenotypes: autosomal dominant optical atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2021-02-17T21:44:10.473489+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5orf42 as ready",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-02-17T21:44:10.462942+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Green List (High Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-02-17T21:44:05.699991+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-02-17T21:43:43.430796+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C5orf42 were set to ",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-02-17T21:43:15.256997+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-02-17T21:42:45.277024+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360; Phenotypes: Joubert syndrome 17, MIM# 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:28:38.257101+11:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6B as ready",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:28:38.249188+11:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:28:34.870473+11:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAT6B as Amber List (moderate evidence)",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:28:34.860651+11:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:27:19.084901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCUBE3 were changed from Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184; Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:26:58.001511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCUBE3: Changed phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184, Short stature, skeletal abnormalities, craniofacial abnormalities, dental anomalies",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:26:27.201143+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCUBE3 were changed from Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184; Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:25:50.819897+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCUBE3: Changed phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184, Short stature, skeletal abnormalities, craniofacial abnormalities, dental anomalies",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:24:31.390883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC45B were changed from Progressive Myopathy with Eccentric Cores to Myofibrillar myopathy 11, MIM# 619178; Progressive Myopathy with Eccentric Cores",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2021-02-17T08:24:10.488258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myofibrillar myopathy 11, MIM# 619178; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2021-02-17T05:30:00.581426+11:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.18",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: KAT6B was added\ngene: KAT6B was added to Periventricular Grey Matter Heterotopia. Sources: Literature\nMode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT6B were set to 32424177; 23236640\nPhenotypes for gene: KAT6B were set to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170\nPenetrance for gene: KAT6B were set to Complete\nReview for gene: KAT6B was set to AMBER\nAdded comment: Zhang et al (2020 - PMID: 32424177) provide a review of the KAT6B-related phenotypes based on unpublished as well as previously reported patients. Grey matter heterotopia was observed in three individuals. \r\n\r\nAccording to GeneReviews (PMID : 23236640) : Most GPS-associated pathogenic variants cluster in KAT6B exon 18, the last exon, and are predicted to produce truncated proteins associated with a gain-of-function mechanism. SBBYS-causing pathogenic variants also occur most frequently in exon 18, but more distally than the GPS-associated variants. Predicted loss-of-function variants in exons 3, 7, 11, and 14-17 were reported to be associated with the SBBYSS phenotype.\r\n\r\nPlease consider inclusion in the current panel with amber or green rating. \nSources: Literature",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-02-16T15:58:54.638919+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLN6 was added\ngene: CLN6 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLN6 were set to 30561534\nPhenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300\nReview for gene: CLN6 was set to GREEN\ngene: CLN6 was marked as current diagnostic\nAdded comment: Dementia or cognitive decline was a feature of the condition in 15/20 cases from 13 unrelated families with Kufs type ceroid lipofuscinosis caused by biallelic CLN6 variants. In some cases, this was the initial presenting feature of the condition. \nSources: Literature",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:38:54.258870+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B9D2 as ready",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:38:54.247987+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d2 has been classified as Green List (High Evidence).",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:38:51.990781+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM# 614175; Meckel syndrome 10, MIM# 614175",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:38:25.689999+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B9D2 were set to ",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:37:57.671042+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:37:29.178513+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26092869, 21763481, 32726168; 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": "2021-02-15T18:34:56.173507+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHI1 as ready",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:34:56.164739+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahi1 has been classified as Green List (High Evidence).",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:34:53.596495+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:34:23.677549+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:33:54.373384+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:33:24.642496+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:32:19.099891+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHI1 as ready",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:32:19.091331+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahi1 has been classified as Green List (High Evidence).",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:32:04.810985+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:31:36.671874+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:31:09.451856+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:30:40.523746+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:20:16.148855+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-15T18:19:48.521779+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:19:48.498586+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:19:46.017346+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:19:16.925949+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2B were set to ",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:18:50.465164+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:18:24.775091+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBB2B as Amber List (moderate evidence)",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:18:24.767061+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:17:54.576779+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 19465910; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:15:29.868254+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN15 as ready",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:15:29.860428+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen15 has been classified as Green List (High Evidence).",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:15:27.599874+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN15 were changed from to Pontocerebellar hypoplasia, type 2F, MIM# 617026",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:14:59.339945+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN15 were set to ",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:14:27.197186+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:13:57.969896+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 3 unrelated families reported.; to: 3 unrelated families reported.",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:13:50.749084+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM# 617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:12:11.532107+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA1A as ready",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:12:11.523894+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba1a has been classified as Red List (Low Evidence).",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:10:17.055005+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:09:50.058888+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA1A as Red List (low evidence)",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:09:50.050490+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba1a has been classified as Red List (Low Evidence).",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:09:22.816603+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: None",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:07:19.709940+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN54 as ready",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:07:19.702295+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Green List (High Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:07:16.667564+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A, MIM# 277470; Pontocerebellar hypoplasia type 4, MIM# 225753",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:06:49.686016+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN54 were set to ",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:06:20.872124+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-02-15T18:05:52.031841+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: 18711368, 20956791, 20952379; Phenotypes: Pontocerebellar hypoplasia type 2A, MIM# 277470, Pontocerebellar hypoplasia type 4, MIM# 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:30:41.440679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHROOM3 as ready",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:30:41.430679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:30:31.687337+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHROOM3 as Amber List (moderate evidence)",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:30:31.677174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:30:14.240878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHROOM3 was added\ngene: SHROOM3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: SHROOM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHROOM3 were set to 32621286\nPhenotypes for gene: SHROOM3 were set to Anencephaly; cleft lip and palate\nReview for gene: SHROOM3 was set to AMBER\nAdded comment: Animal model and other functional data link SHROOM3 to neural tube development. Single family reported with bi-allelic LoF in a fetus with anencephaly and CL/P. \nSources: Expert Review",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:28:45.890465+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHROOM3 as ready",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:28:45.880787+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:28:20.226468+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHROOM3 as Amber List (moderate evidence)",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:28:20.212034+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:28:12.665962+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHROOM3 was added\ngene: SHROOM3 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: SHROOM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHROOM3 were set to 32621286\nPhenotypes for gene: SHROOM3 were set to Anencephaly; cleft lip and palate\nReview for gene: SHROOM3 was set to AMBER\nAdded comment: Animal model and other functional data link SHROOM3 to neural tube development. Single family reported with bi-allelic LoF in a fetus with anencephaly and CL/P. \nSources: Expert Review",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:25:38.067766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLT3 as ready",
"entity_name": "FLT3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:25:38.056929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flt3 has been classified as Red List (Low Evidence).",
"entity_name": "FLT3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:25:28.510715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLT3 as Red List (low evidence)",
"entity_name": "FLT3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:25:28.502999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flt3 has been classified as Red List (Low Evidence).",
"entity_name": "FLT3",
"entity_type": "gene"
},
{
"created": "2021-02-15T17:25:11.413550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FLT3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:36:51.863682+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSL3 as ready",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:36:51.857056+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msl3 has been classified as Green List (High Evidence).",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:36:42.412969+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSL3 as ready",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:36:42.401857+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msl3 has been classified as Green List (High Evidence).",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:36:30.612185+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSL3 were changed from to Basilicata-Akhtar syndrome, OMIM # 301032",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:36:00.060689+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MSL3 were set to ",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:35:30.058237+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSL3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:34:55.805273+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:34:41.214093+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MSL3: Well established ID gene. 2021 paper documents findings in 25 individuals. Variants found to be clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of missense and splice variants indicated that these have a deleterious effect. The main clinical findings comprised developmental delay and intellectual disability ranging from mild to severe. Autism spectrum disorder, muscle tone abnormalities, and macrocephaly were common as well as hearing impairment and gastrointestinal problems. Hypoplasia of the cerebellar vermis emerged as a consistent magnetic resonance image (MRI) finding.",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:34:40.217277+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: Basilicata-Akhtar syndrome, OMIM # 301032; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:33:41.482432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSL3 as ready",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:33:41.475005+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msl3 has been classified as Green List (High Evidence).",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:33:26.444535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSL3 were changed from to Basilicata-Akhtar syndrome, OMIM # 301032",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:33:12.172487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MSL3 were set to ",
"entity_name": "MSL3",
"entity_type": "gene"
}
]
}