HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1602",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1600",
"results": [
{
"created": "2020-09-09T08:25:24.498462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TET2 were changed from Dementia; Lymphoma/myeloid malignancy to Dementia; Lymphoma/myeloid malignancy; Immunodeficiency",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-09T08:25:03.105376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TET2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-09T08:23:11.133314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TET2 as Green List (high evidence)",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-09T08:23:11.124740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet2 has been classified as Green List (High Evidence).",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-08T15:12:45.235249+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.32",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "edited their review of gene: NOBOX: Changed publications: PMIDs: 27836978, 21837770, 25514101, 17701902, 27798098, 29067606; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOBOX",
"entity_type": "gene"
},
{
"created": "2020-09-08T15:12:05.687933+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.32",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Missense and PTC variants have been identified in > 3 unrelated women diagnosed with POI from different studies\r\n- The vast majority of variants are heterozygous, with only one homozygous variant reported in 1 individual with primary amenorrhea and serum FSH level significantly exceeding the threshold value (PMID: 27836978)\r\n- Loss of Function has been clearly demonstrated, while dominant negative effect has also been suggested although there is currently limited evidence (PMID: 17701902)\r\n- Individuals carrying the same variant can have heterogeneous clinical presentations; to: - Missense and PTC variants have been identified in > 3 unrelated women diagnosed with POI from different studies\r\n- The vast majority of variants are heterozygous, with limited reports of homozygous variants (PMID: 27836978; 29067606)\r\n- Loss of Function has been clearly demonstrated, while dominant negative effect has also been suggested although there is currently limited evidence (PMID: 17701902)\r\n- Individuals carrying the same variant can have heterogeneous clinical presentations",
"entity_name": "NOBOX",
"entity_type": "gene"
},
{
"created": "2020-09-08T14:44:43.170643+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HECW2 as ready",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2020-09-08T14:44:43.161530+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hecw2 has been classified as Green List (High Evidence).",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2020-09-08T14:43:46.541908+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HECW2 were changed from to Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268)",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2020-09-08T14:36:52.368120+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HECW2 were set to ",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2020-09-08T14:36:26.088601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HECW2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2020-09-08T12:47:30.900973+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.32",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: NOBOX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 27836978, 21837770, 25514101, 17701902, 27798098; Phenotypes: Premature ovarian failure 5, 611548, AD (more commonly referred to as Premature ovarian insufficiency (POI) in the literature); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOBOX",
"entity_type": "gene"
},
{
"created": "2020-09-08T12:12:41.568654+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NEK1 as ready",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-09-08T12:12:41.560094+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Green List (High Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-09-08T12:12:37.840573+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NEK1 as Green List (high evidence)",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-09-08T12:12:37.830533+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Green List (High Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-09-08T12:11:56.601087+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NEK1 was added\ngene: NEK1 was added to Motor Neuron Disease. Sources: Literature\nMode of inheritance for gene: NEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NEK1 were set to 31768050; 26945885; 27455347; 29929116\nPhenotypes for gene: NEK1 were set to Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892\nReview for gene: NEK1 was set to GREEN\nAdded comment: Exome-wide significant burden of heterozygous loss-of-function identified in ALS case-control studies that is replicated in both familial and simplex cohorts. Segregation of a PTV reported in 2 affected first-degree relatives in a single family. A loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons. \nSources: Literature",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:45:29.199579+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2976",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27389779; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:04:46.250364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLR7 as ready",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:04:46.241015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlr7 has been classified as Green List (High Evidence).",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:04:35.846423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLR7 were changed from to Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:04:16.623552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TLR7 were set to ",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:03:59.519415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLR7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:03:32.978491+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLR7 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:02:34.112608+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TLR7: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:54:59.417907+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F1 as ready",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:54:59.408708+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Red List (Low Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:54:57.058947+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:54:33.877587+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F1 were set to ",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:54:10.960396+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:53:54.172373+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR2F1 as Red List (low evidence)",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:53:54.163103+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Red List (Low Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:53:27.105315+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:49:43.543000+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC5 as ready",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:49:43.532224+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc5 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:45:24.255953+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC5 were changed from to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:45:03.985244+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC5 were set to ",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:44:21.262808+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC5 as Red List (low evidence)",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:44:21.250761+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc5 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:43:52.257164+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXOSC5: Rating: RED; Mode of pathogenicity: None; Publications: 32504085, 29302074; Phenotypes: Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia; Mode of inheritance: None",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:39:03.131726+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC5 as ready",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:39:03.121076+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc5 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:38:54.161126+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC5 as Green List (high evidence)",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:38:54.150285+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc5 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:38:45.624574+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC5 was added\ngene: EXOSC5 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC5 were set to 32504085; 29302074\nPhenotypes for gene: EXOSC5 were set to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia\nReview for gene: EXOSC5 was set to GREEN\nAdded comment: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient. Cerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively. A LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.\r\n\r\n- PMID: 29302074 (2019) - Three sibs with a homozygous EXOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken. \nSources: Literature",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:37:26.498792+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC5 were changed from Developmental delays, short stature, cerebellar hypoplasia and motor weakness to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:36:57.381412+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC5 as Green List (high evidence)",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:36:57.370766+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc5 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:36:26.615418+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:36:21.210733+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC5: Added comment: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient.\r\nCerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively.\r\n\r\nA LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.\r\n\r\n- PMID: 29302074 (2019) - Three sibs with a homozygous EXOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken.; Changed rating: GREEN; Changed publications: 32504085, 29302074; Changed phenotypes: Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:34:37.869632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC5 as ready",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:34:37.861109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc5 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:34:27.200267+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC5 were changed from to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:34:08.545312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC5 were set to ",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T21:33:49.282222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T20:38:42.182592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4275",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXCOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient.\r\nCerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively.\r\n\r\nA LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.\r\n\r\n- PMID: 29302074 (2019) - Three sibs with a homozygous EXCOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken.; to: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient.\r\nCerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively.\r\n\r\nA LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.\r\n\r\n- PMID: 29302074 (2019) - Three sibs with a homozygous EXOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken.",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T20:37:51.011481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4275",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: EXOSC5: Rating: ; Mode of pathogenicity: None; Publications: 32504085, 29302074; Phenotypes: Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-09-07T19:38:23.744770+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM173 as ready",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-09-07T19:38:23.733028+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem173 has been classified as Green List (High Evidence).",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-09-07T19:38:19.690867+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM173 as Green List (high evidence)",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-09-07T19:38:19.683047+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem173 has been classified as Green List (High Evidence).",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-09-07T19:37:57.523090+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM173 was added\ngene: TMEM173 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review\nMode of inheritance for gene: TMEM173 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM173 were set to 27613991; 32398023\nPhenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, MIM#\t615934\nReview for gene: TMEM173 was set to GREEN\nAdded comment: Four individuals reported with severe interstitial lung disease in the setting of STING-associated vasculopathy. \nSources: Expert Review",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:30:35.953913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A1 as ready",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:30:35.941915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:30:29.721625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A1 were changed from to Bladder-Exstrophy-Epispadias Complex (BEEC)",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:30:02.231038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC20A1 were set to ",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:29:50.346578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC20A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:29:32.999329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC20A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32850778, 27013921; Phenotypes: Bladder-Exstrophy-Epispadias Complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:14:24.016223+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA8 as ready",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:14:24.007414+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla8 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:14:21.742073+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from to Mitochondrial myopathy with lactic acidosis (MIM#251950), AR",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:14:00.553764+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPLA8 were set to ",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:13:38.211401+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:13:13.732540+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681094, 25512002; Phenotypes: Mitochondrial myopathy with lactic acidosis (MIM#251950), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:12:14.752844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA8 as ready",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:12:14.742709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla8 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:11:40.485223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from to Mitochondrial myopathy with lactic acidosis (MIM#251950), AR",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:10:13.012227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPLA8 were set to ",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:09:56.408820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:04:14.989581+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F1 as ready",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:04:14.978764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Green List (High Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:04:06.992533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:03:51.897070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F1 were set to ",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:03:35.370536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:03:11.820277+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F1 as ready",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:03:11.810733+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Green List (High Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:03:05.337320+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F1 were set to ",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:02:33.250662+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:01:36.661439+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:01:12.631456+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:00:48.584990+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F1 as ready",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:00:48.575852+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Green List (High Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:00:43.418769+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:00:25.361922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:00:13.547497+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F1 as ready",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:00:13.535901+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Green List (High Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T18:00:06.691061+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F1 were set to ",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:59:37.870258+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:59:10.550279+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:59:03.977140+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722",
"entity_name": "NR2F1",
"entity_type": "gene"
}
]
}