HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1114",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1112",
"results": [
{
"created": "2021-11-29T13:49:39.297333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACO2 as ready",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:49:39.279878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aco2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:49:25.154733+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, MIM# 614559",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:49:13.002251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACO2 were set to ",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:48:58.842757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519; Phenotypes: Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:48:16.670299+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:48:16.661097+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:48:12.473812+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NOTCH2 as Green List (high evidence)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:48:12.462311+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:48:01.160546+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.224",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOTCH2 was added\ngene: NOTCH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH2 were set to 34794894; 32772338; 32312275; 30304577; 28505269; 28283672\nPhenotypes for gene: NOTCH2 were set to Primary ovarian insufficiency\nReview for gene: NOTCH2 was set to GREEN\nAdded comment: At least 4 missense (in 5 women) with suggestive loss of function mechanisms and supporting mouse models\r\nPMID: 32772338 - variable Hajdu-Cheney syndrome phenotype in family. Affected daughter with truncating variant not expected to cause NMD (pTrp2253Ter) had hypothalamic hypogonadism as a feature of the condition, but mother did not.\r\nPMID: 32312275 - mother and daughter in a POI pedigree were both heterozygous for the missense p.Asp1853His (6 hets in gnomAD v2.1). In vitro functional assays of the variant demonstrated that it wasn't an activating mutation.\r\nPMID: 30304577, 28505269 - 4 unrelated women with POI heterozygous for missense variants (p.Ser1804Leu, p.Gln1811His, p.Leu2408His, p.Pro2359Ala) and 1 woman suspected biallelic (p.Ala2316Val & p.Leu2408His). In vitro luciferase reporter assays in KGN cells demonstrated reduced function for S1804L (15% less), A2316V (27% less), and P2359A (14% less), the other missense were similar to WT. Additionally, p.Leu2408His has 583 hets in gnomAD v2.1. Suggested that POI is associated with loss of function, rather than the gain of function variants that cause Hajdu-Cheney syndrome and Alagille syndrome.\r\nPMID: 28283672 - supporting conditional knockout mouse models \nSources: Literature",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:45:47.724969+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABL1 as ready",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:45:47.714966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:45:33.601474+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABL1 were set to ",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:45:20.423675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:45:09.588261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABL1 as Green List (high evidence)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:45:09.575249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2021-11-29T12:17:15.704876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.766",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MYH8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20949528, 17041932, 15282353; Phenotypes: Trismus-pseudocamptodactyly syndrome (MIM#158300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH8",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:52:04.127024+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LHX8 as ready",
"entity_name": "LHX8",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:52:04.105662+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lhx8 has been classified as Red List (Low Evidence).",
"entity_name": "LHX8",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:51:48.807443+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LHX8 was added\ngene: LHX8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904\nPhenotypes for gene: LHX8 were set to Primary ovarian insufficiency\nReview for gene: LHX8 was set to RED\nAdded comment: Only supporting mouse model. Same variant reported in 2 cases is too common\r\nPMID: 34095689 - 1 POI case with missense p.Ala325Val, which has 533 hets and 22 homozygotes in gnomAD v2.1, too common for Mendelian disease\r\nPMID: 29329412 - Lhx8 knockout mouse model demonstrates premature depletion of oocytes\r\nPMID: 27603904 - 1 POI case also with p.Ala325Val \nSources: Literature",
"entity_name": "LHX8",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:43:08.258760+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.766",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31944481, 30071989, 16444274, 17666408, 27081537; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:39:09.005927+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRDM1 as ready",
"entity_name": "PRDM1",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:39:08.989423+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prdm1 has been classified as Red List (Low Evidence).",
"entity_name": "PRDM1",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:39:03.113291+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRDM1 was added\ngene: PRDM1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: PRDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM1 were set to 34794894; 33095795\nPhenotypes for gene: PRDM1 were set to Primary ovarian insufficiency\nReview for gene: PRDM1 was set to RED\nAdded comment: Single case heterozygous for a missense variant (c.1250C>G:p.P417R) with delayed puberty, congenital heart defect, café-au-lait spots, high arched palate, cubitus valgus, and hyperdontia. \nSources: Literature",
"entity_name": "PRDM1",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:31:22.140791+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: POU5F1 were set to 21273125",
"entity_name": "POU5F1",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:31:02.627211+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: POU5F1: Rating: RED; Mode of pathogenicity: None; Publications: 33095795; Phenotypes: Primary ovarian sufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POU5F1",
"entity_type": "gene"
},
{
"created": "2021-11-29T11:06:18.620519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.766",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: None; Publications: 24825879, 24901346, 25356899, 22495309, 25003005; Phenotypes: Microcephaly, Hip dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:59:56.388919+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.766",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18470948; Phenotypes: Feingold syndrome 1 (MIM#164280); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:59:36.223433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD4 as ready",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:59:36.206245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:59:32.246811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD4 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE to Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:59:20.612274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD4 were set to ",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:59:05.575040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and hematological abnormalities. Normal neurodevelopmental outcomes with treatment reported.\r\n\r\nAt least 6 affected individuals reported.; to: Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and haematological abnormalities. Normal neurodevelopmental outcomes with treatment reported.\r\n\r\nAt least 6 affected individuals reported.\r\n\r\nCongenital anomalies are very rarely reported, uncertain if they are part of the phenotype.",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:58:06.100708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABCD4: Changed rating: AMBER",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:57:09.682589+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AASS as ready",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:57:09.673536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aass has been classified as Red List (Low Evidence).",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:57:00.786491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AASS as Red List (low evidence)",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:57:00.776358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aass has been classified as Red List (Low Evidence).",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:56:48.339640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.; to: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.\r\n\r\nGiven the uncertainty about whether this is a disease entity and lack of associated congenital anomalies or other features that would be detectable in the prenatal setting, downgraded to RED on this panel.",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:56:14.655900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DAZL as ready",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:56:14.647063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dazl has been classified as Amber List (Moderate Evidence).",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:55:46.676412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AASS: Changed rating: RED",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:55:01.775729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: AARS.",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:54:54.194839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AARS as ready",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:54:54.184600+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars has been classified as Green List (High Evidence).",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:54:50.021541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AARS were set to ",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:54:38.621525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AARS as Green List (high evidence)",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:54:38.611147+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars has been classified as Green List (High Evidence).",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:53:51.066358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DAZL as Amber List (moderate evidence)",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:53:51.057290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dazl has been classified as Amber List (Moderate Evidence).",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:53:22.696272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9917",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DAZL was added\ngene: DAZL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DAZL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DAZL were set to 34794894; 33095795; 16884537; 9288969\nPhenotypes for gene: DAZL were set to Primary ovarian insufficiency\nReview for gene: DAZL was set to AMBER\nAdded comment: PMID: 33095795 - Single POI case with heterozygous stopgain (c.640C>T:p.Q214*).\r\nPMID: 16884537 - 4 heterozygous unrelated early menopause/POI cases with heterozygous missense (all rare in gnomAD v2.1, except p.Asn10His which has 14 hets)\r\nPMID: 9288969 - supporting knockout mouse model \nSources: Literature",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:52:47.816155+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.761",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSX2",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:44:42.810203+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DAZL as ready",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:44:42.798204+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dazl has been classified as Amber List (Moderate Evidence).",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:44:29.441202+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DAZL as Amber List (moderate evidence)",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:44:29.430846+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dazl has been classified as Amber List (Moderate Evidence).",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:38:10.127463+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DAZL was added\ngene: DAZL was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: DAZL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DAZL were set to 34794894; 33095795; 16884537; 9288969\nPhenotypes for gene: DAZL were set to Primary ovarian insufficiency\nReview for gene: DAZL was set to AMBER\nAdded comment: PMID: 33095795 - Single POI case with heterozygous stopgain (c.640C>T:p.Q214*).\r\nPMID: 16884537 - 4 heterozygous unrelated early menopause/POI cases with heterozygous missense (all rare in gnomAD v2.1, except p.Asn10His which has 14 hets)\r\nPMID: 9288969 - supporting knockout mouse model \nSources: Literature",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:23:38.468550+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.761",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742093, 12807959; Phenotypes: Orofacial cleft 5 (MIM#608874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:15:37.421156+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BMP8B as ready",
"entity_name": "BMP8B",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:15:37.410599+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bmp8b has been classified as Red List (Low Evidence).",
"entity_name": "BMP8B",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:15:30.039124+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BMP8B was added\ngene: BMP8B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: BMP8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP8B were set to 34794894; 33095795; 10894154; 22579288\nPhenotypes for gene: BMP8B were set to Primary ovarian insufficiency\nReview for gene: BMP8B was set to RED\nAdded comment: Two heterozygous POI cases, one with p.Met342Val which has 32 hets in gnomAD v2.1 and p.Arg260Cys which has 642 hets in gnomAD v2.1. Both more common than expected for Mendelian disease. Knockout mouse models have defective primordial germ cell formation. \nSources: Literature",
"entity_name": "BMP8B",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:03:38.939220+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATG9A as ready",
"entity_name": "ATG9A",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:03:38.928718+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atg9a has been classified as Red List (Low Evidence).",
"entity_name": "ATG9A",
"entity_type": "gene"
},
{
"created": "2021-11-29T10:03:27.260631+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATG9A was added\ngene: ATG9A was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: ATG9A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATG9A were set to 34794894; 30224786\nPhenotypes for gene: ATG9A were set to Primary ovarian insufficiency\nReview for gene: ATG9A was set to RED\nAdded comment: Single heterozygous case reported, with in vitro functional assay supporting a loss of function mechanism for the missense variant. \nSources: Literature",
"entity_name": "ATG9A",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:56:55.082106+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATG7 as ready",
"entity_name": "ATG7",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:56:55.072768+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atg7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATG7",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:56:50.982557+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATG7 as Amber List (moderate evidence)",
"entity_name": "ATG7",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:56:50.972214+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atg7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATG7",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:56:41.462980+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATG7 was added\ngene: ATG7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: ATG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ATG7 were set to 34794894; 34161705; 30224786; 25590799\nPhenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31 MIM#619422; primary ovarian insufficiency\nReview for gene: ATG7 was set to AMBER\nAdded comment: PMID: 30224786 - a heterozygous missense (p.Phe403Leu) in a single proband with POI and in vitro functional assays supporting loss of function for the variant.\r\nPMID: 34161705 - one family with biallelic variants and SCAR31 had late-onset or no puberty, and another patient with SCAR31 from another family presented with hypogonadotropic hypogonadism and gynecomastia (2/5 families reported with endocrine features).\r\nPMID: 25590799 - germ cell-specific mouse Atg7 knockout recapitulates the human POI phenotype \nSources: Literature",
"entity_name": "ATG7",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:41:24.123553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.761",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21189481, 17873122, 25663021; Phenotypes: Combined oxidative phosphorylation deficiency 5 (MIM#611719); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:33:04.841051+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GATA4 as ready",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:33:04.831629+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gata4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:32:40.775132+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GATA4 as Amber List (moderate evidence)",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:32:40.765328+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gata4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:32:30.831629+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GATA4 was added\ngene: GATA4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: GATA4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GATA4 were set to 34794894; 33095795; 29544631\nPhenotypes for gene: GATA4 were set to Primary ovarian insufficiency; congenital heart defect\nReview for gene: GATA4 was set to AMBER\nAdded comment: One woman with a homozygous missense (p.Pro407Arg) and POI, sensorineural deafness, congenital heart defect, and kidney insufficiency. Another woman with a heterozygous missense variant (p.Ala94Thr) with secondary amenorrhea (but no mention of congenital heart defects). Also, supporting mouse models for a role for GATA4 in ovarian development. \nSources: Literature",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-11-29T09:03:44.386387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.761",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10053004, 31848698, 16021469, 30900395; Phenotypes: Molybdenum cofactor deficiency B (MIM#252160); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:49:50.557536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. However, two individuals with adolescent onset described in 25527264, mimicking steroid-responsive neuroinflammatory disorder. HGNC approved name DARS1.; to: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. \r\n\r\nHGNC approved name DARS1.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:49:21.801312+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS as ready",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:49:21.792619+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:49:18.084472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DARS were changed from HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:49:04.155607+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS were set to ",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:48:52.850170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: DARS.",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:48:19.549153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAG1 as ready",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:48:19.538612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:48:17.593826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DAG1 were set to 29337005; 25503980",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:47:57.563074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21388311, 25934851, 24052401, 25503980; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Walker-Warburg syndrome and tectocerebellar dysgraphia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:46:39.059311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAG1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:46:27.942107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DAG1 were set to ",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:44:54.995186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAG1 as Amber List (moderate evidence)",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:44:54.985132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:44:44.250795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25934851, 24052401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:41:22.879190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CYP21A2.",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:41:05.039235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP2U1 as ready",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:41:05.025132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Red List (Low Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:41:01.533843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2U1 were changed from HEREDITARY SPASTIC PARAPLEGIA to Spastic paraplegia 56, autosomal recessive, MIM#615030",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:40:48.998766+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP2U1 as Red List (low evidence)",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:40:48.988925+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Red List (Low Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:40:38.801785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Neurodegenerative condition rather than truly ID.; to: Neurodegenerative condition with onset in the first decade.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:38:02.217788+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP21A2 as ready",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2021-11-28T17:38:02.197817+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp21a2 has been classified as Green List (High Evidence).",
"entity_name": "CYP21A2",
"entity_type": "gene"
}
]
}