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{
"count": 220403,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=948",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=946",
"results": [
{
"created": "2022-03-03T18:30:56.937955+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2022-03-03T18:30:49.636321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2022-03-03T18:30:31.304160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QDPR were set to ",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2022-03-03T18:30:03.719243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2022-03-03T18:29:43.693348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:44:37.396542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:44:12.982184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRM2B were set to 24741716",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:43:51.167365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32827185; Phenotypes: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:37:43.787025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: OPDM4 as ready",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:37:43.777758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm4 has been classified as Green List (High Evidence).",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:28:42.840723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: OPDM4 as Green List (high evidence)",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:28:42.829667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm4 has been classified as Green List (High Evidence).",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:27:18.269602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: OPDM4 was added\nSTR: OPDM4 was added to Mendeliome. Sources: Literature\nMode of inheritance for STR: OPDM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM4 were set to 35148830\nPhenotypes for STR: OPDM4 were set to Oculopharyngodistal myopathy MONDO:0025193\nReview for STR: OPDM4 was set to GREEN\nSTR: OPDM4 was marked as clinically relevant\nAdded comment: 5'UTR repeat upstream of RILPL1. Analyses suggest that toxic RNA gain-of-function is the mechanism of disease for the repeat expansion. Distribution of CGG repeat units in RILPL1 ranged from 9 to 16 among 200 normal controls. The size of the CGG repeat ranged from 139 to 197 (169.91 ± 21.82) repeats in 11 unrelated individuals with OPDM. Segregation evidence from 1 family, with 2 affected individuals with the repeat expansion and 1 individual with essential tremor but not OPDM and 86 repeats (intermediate). \nSources: Literature",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:18:50.801719+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: OPDM4 as ready",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:18:50.788218+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm4 has been classified as Green List (High Evidence).",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:18:46.294904+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: OPDM4 as Green List (high evidence)",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:18:46.284783+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm4 has been classified as Green List (High Evidence).",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:18:33.876486+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: OPDM4 was added\nSTR: OPDM4 was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: OPDM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM4 were set to 35148830\nPhenotypes for STR: OPDM4 were set to Oculopharyngodistal myopathy MONDO:0025193\nReview for STR: OPDM4 was set to GREEN\nSTR: OPDM4 was marked as clinically relevant\nAdded comment: 5'UTR repeat upstream of RILPL1. Analyses suggest that toxic RNA gain-of-function is the mechanism of disease for the repeat expansion.\r\nDistribution of CGG repeat units in RILPL1 ranged from 9 to 16 among 200 normal controls. The size of the CGG repeat ranged from 139 to 197 (169.91 ± 21.82) repeats in 11 unrelated individuals with OPDM. Segregation evidence from 1 family, with 2 affected individuals with the repeat expansion and 1 individual with essential tremor but not OPDM and 86 repeats (intermediate). \nSources: Literature",
"entity_name": "OPDM4",
"entity_type": "str"
},
{
"created": "2022-03-03T17:06:42.737066+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"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": "2022-03-03T17:06:03.189256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OXR1 as ready",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:06:03.169383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:05:57.435956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OXR1 as Amber List (moderate evidence)",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:05:57.425702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:05:44.971010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OXR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000; Mode of inheritance: None",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:04:32.341311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED27 as ready",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:04:32.329017+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:04:27.513693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED27 as Green List (high evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:04:27.501894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:03:54.912381+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC9 as ready",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:03:54.895045+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc9 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:03:48.535761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC9 as Green List (high evidence)",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2022-03-03T17:03:48.523605+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc9 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:51:24.431562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4729",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: OXR1 was added\ngene: OXR1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXR1 were set to PMID: 31785787\nPhenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000\nReview for gene: OXR1 was set to GREEN\nAdded comment: Early-onset condition associated with cerebellar atrophy and severe global developmental delay. Limited antenatal information provided but affected individuals were much older at the time of formal diagnosis PMID: 31785787, antenatal detection may be possible.\r\n\r\n---\r\n5 individuals from 3 unrelated families reported with bi-allelic variants in this gene. Presentation was in early childhood with hypotonia, global developmental delay, delayed walking at about age 3 years, and severely impaired intellectual development with profound speech delay or even absent language. All also developed epilepsy between 7 and 10 years of age, but the seizures were controlled by medication in most. Subtle nonspecific dysmorphic features included poor overall growth, large forehead, tall face, mild hypertelorism, joint hyperlaxity, and long fingers and toes. Brain imaging in all 5 individuals showed cerebellar atrophy and dysplasia. Additional cerebellar features, such as tremor, ataxia, and nystagmus, were not noted in these individuals. \nSources: Literature",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:41:23.120310+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4729",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MED27 was added\ngene: MED27 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED27 were set to 33443317\nPhenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286\nReview for gene: MED27 was set to GREEN\nAdded comment: Severe neurodevelopmental disorder with onset in infancy associated with multiple, significant brain anomalies which may be detectable antenatally (although antenatal phenotype not reported in published cases) \nSources: Literature",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:25:21.643095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4729",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: EXOSC9 was added\ngene: EXOSC9 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC9 were set to 33040083; 30690203; 29727687\nPhenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D - MIM#618065\nReview for gene: EXOSC9 was set to GREEN\nAdded comment: Multiple antenatal features reported including IUGR, reduced fetal movements, oligohydramnios, congenital fractures and contractures. \nSources: Literature",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:25:17.064383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC8 as ready",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:25:17.054065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc8 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:25:12.229704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC8 as Green List (high evidence)",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:25:12.219631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc8 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:24:45.080297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC5 as ready",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:24:45.061459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4728",
"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": "2022-03-03T16:24:39.587413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC5 as Green List (high evidence)",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:24:39.577869+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4728",
"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": "2022-03-03T16:24:17.333836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CWF19L1 as ready",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:24:17.310842+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cwf19l1 has been classified as Green List (High Evidence).",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:24:12.067814+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CWF19L1 as Green List (high evidence)",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:24:12.056979+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cwf19l1 has been classified as Green List (High Evidence).",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:22:36.446612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBP4 as ready",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:22:36.436903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbp4 has been classified as Green List (High Evidence).",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:22:31.221842+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBP4 as Green List (high evidence)",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:22:31.210381+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbp4 has been classified as Green List (High Evidence).",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:22:20.818542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBP4 was added\ngene: RBP4 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBP4 were set to 25910211; 29178648\nPhenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10 MIM#616428\nReview for gene: RBP4 was set to GREEN\nAdded comment: At least 3 unrelated microphthalmia, anophthalmia and coloboma families and supporting functional assays. Study established an uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA. \nSources: Expert Review",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:20:59.650798+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRR12 as ready",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:20:59.639617+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prr12 has been classified as Green List (High Evidence).",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:20:54.388867+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRR12 as Green List (high evidence)",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:20:54.380011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prr12 has been classified as Green List (High Evidence).",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:20:43.902359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRR12 was added\ngene: PRR12 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRR12 were set to 33314030; 29556724\nPhenotypes for gene: PRR12 were set to Neuroocular syndrome, MIM#619539; Complex microphthalmia\nReview for gene: PRR12 was set to GREEN\nAdded comment: PMID 33314030: Four unrelated families reported with unilateral or bilateral microphthalmia +/- Peters anomaly. In addition, 3 unrelated families reported with more complex phenotype including ID in PMID 29556724. \nSources: Expert Review",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:20:00.790209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4722",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals \nSources: Literature; to: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 (more info in supplementary material) report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals \r\nSources: Literature",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:19:41.249525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4722",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: EXOSC8 was added\ngene: EXOSC8 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC8 were set to 34210538; 24989451\nPhenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C - MIM#616081\nReview for gene: EXOSC8 was set to GREEN\nAdded comment: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals \nSources: Literature",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:18:58.812748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAB21L1 as ready",
"entity_name": "MAB21L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:18:58.801439+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mab21l1 has been classified as Green List (High Evidence).",
"entity_name": "MAB21L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:18:54.039898+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAB21L1 as Green List (high evidence)",
"entity_name": "MAB21L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:18:54.030401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mab21l1 has been classified as Green List (High Evidence).",
"entity_name": "MAB21L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:18:43.177660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAB21L1 was added\ngene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAB21L1 were set to 30487245\nPhenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479\nReview for gene: MAB21L1 was set to GREEN\nAdded comment: Pontocerebellar hypoplasia, Dandy-Walker malformation, microcephaly reported. \nSources: Expert Review",
"entity_name": "MAB21L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:15:35.447247+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXW11 as ready",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:15:35.436828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxw11 has been classified as Green List (High Evidence).",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:15:30.379501+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXW11 as Green List (high evidence)",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:15:30.369889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxw11 has been classified as Green List (High Evidence).",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:15:16.994281+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 7 unrelated individuals; structural brain, eye and limb anomalies. \nSources: Expert Review; to: 7 unrelated individuals; structural brain, craniofacial, eye and limb anomalies. \r\nSources: Expert Review",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:15:06.042573+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXW11 was added\ngene: FBXW11 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBXW11 were set to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914\nReview for gene: FBXW11 was set to GREEN\nAdded comment: 7 unrelated individuals; structural brain, eye and limb anomalies. \nSources: Expert Review",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:12:43.744481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4718",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: EXOSC5 was added\ngene: EXOSC5 was added to Fetal anomalies. 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 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects - MIM#619576\nReview for gene: EXOSC5 was set to GREEN\nAdded comment: Associated with congenital anomalies \nSources: Literature",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:12:36.409246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPN15 as ready",
"entity_name": "CAPN15",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:12:36.397986+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn15 has been classified as Green List (High Evidence).",
"entity_name": "CAPN15",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:12:29.004260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPN15 as Green List (high evidence)",
"entity_name": "CAPN15",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:12:28.984523+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn15 has been classified as Green List (High Evidence).",
"entity_name": "CAPN15",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:12:17.755587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAPN15 was added\ngene: CAPN15 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPN15 were set to 32885237\nPhenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318; microphthalmia HP:0000568; coloboma HP:0000589\nReview for gene: CAPN15 was set to GREEN\nAdded comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth. \nSources: Expert Review",
"entity_name": "CAPN15",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:10:56.348554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C16orf62 as ready",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:10:56.328563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c16orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:09:46.945447+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C16orf62 as Amber List (moderate evidence)",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:09:46.913110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c16orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:09:36.332318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).\r\n\r\nMicrophthalmia and multiple other anomalies. \nSources: Expert Review; to: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impaired autophagy and VPS35L knockout mouse resulted in early embryonic lethality (PMID 25434475;31712251).\r\n\r\nMicrophthalmia and multiple other anomalies. \r\nSources: Expert Review",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:09:14.238978+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C16orf62 was added\ngene: C16orf62 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C16orf62 were set to 25434475; 31712251\nPhenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135\nReview for gene: C16orf62 was set to AMBER\nAdded comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).\r\n\r\nMicrophthalmia and multiple other anomalies. \nSources: Expert Review",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:07:19.511979+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4714",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CWF19L1 was added\ngene: CWF19L1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CWF19L1 were set to 27016154\nPhenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 - MIM#616127\nReview for gene: CWF19L1 was set to GREEN\nAdded comment: Fetal phenotype also described by 27016154 - MTOP at 22 weeks of gestation of an affected fetus due to small cerebellum and agenesis of corpus callosum. Postmortem examination showed unilateral hexadactyly and vertebral malformations. \nSources: Literature",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:06:28.815410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM218 as ready",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:06:28.803345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem218 has been classified as Green List (High Evidence).",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:06:22.101616+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM218 as Green List (high evidence)",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:06:22.092229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem218 has been classified as Green List (High Evidence).",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:05:42.156064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NID1 as ready",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:05:42.144936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nid1 has been classified as Green List (High Evidence).",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:05:34.861198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NID1 as Green List (high evidence)",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:05:34.847170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nid1 has been classified as Green List (High Evidence).",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:04:57.874306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTX2 as ready",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:04:57.861254+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:04:52.259346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTX2 as Green List (high evidence)",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:04:52.249826+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:04:10.913566+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0556 as ready",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:04:10.900332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0556 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:04:03.761980+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0556 as Green List (high evidence)",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:04:03.750255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0556 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:03:50.834719+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0556.",
"entity_name": "KIAA0556",
"entity_type": "gene"
}
]
}