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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1071",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1069",
"results": [
{
"created": "2021-12-29T14:02:33.124675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aptx has been classified as Red List (Low Evidence).",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:02:27.929378+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APTX were changed from ATAXIA WITH OCULOMOTOR APRAXIA 1 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:02:14.487833+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: APTX: Changed phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:02:08.272649+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive neurological condition, including cognitive deterioration in some but not truly intellectual disability.; to: Progressive neurological condition, post-natal onset.",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:01:09.302991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOPT1 as ready",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:01:09.291289+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Red List (Low Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:00:56.830437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOPT1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:00:44.703648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOPT1 were set to ",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:00:31.930315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.\r\n\r\nClinical presentation is typically in childhood.; to: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.\r\n\r\nClinical presentation is typically in early childhood.",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:00:19.842538+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.; to: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.\r\n\r\nClinical presentation is typically in childhood.",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:00:03.828625+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: APOPT1: Changed rating: RED",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:58:27.741960+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3B1 as ready",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:58:27.730739+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3b1 has been classified as Red List (Low Evidence).",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:58:24.339597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 608233 to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:58:13.837774+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP3B1 were set to ",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:58:00.628296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: RED; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:56:37.409432+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO5 as ready",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:56:37.398993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano5 has been classified as Red List (Low Evidence).",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:56:33.202687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO5 were changed from GNATHODIAPHYSEAL DYSPLASIA; MIYOSHI MUSCULAR DYSTROPHY TYPE 3 to Gnathodiaphyseal dysplasia, MIM# 166260; Miyoshi muscular dystrophy 3, MIM# 613319; Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:56:18.172553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANO5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gnathodiaphyseal dysplasia, MIM# 166260, Miyoshi muscular dystrophy 3, MIM# 613319, Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:53:54.535050+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALS2 as ready",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:53:54.524994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: als2 has been classified as Red List (Low Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:53:50.434874+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALS2 were changed from ALS2-RELATED DISORDERS to Spastic paralysis, infantile onset ascending, MIM#607225",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:53:35.935725+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive neurological conditions, but cognition is normal.; to: Progressive neurological condition, onset is post-natal.",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:52:34.876965+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOB as ready",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:52:34.867513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Red List (Low Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:52:22.524843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDOB were changed from HEREDITARY FRUCTOSE INTOLERANCE to Fructose intolerance, hereditary, MIM#229600",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:52:08.721074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not an intrinsic feature of this condition; most reported individuals have had normal cognition; to: Presentation is typically post-natal.",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:51:49.745687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:50:32.773179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:50:32.763781+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:50:24.640701+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH5A1 were changed from SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:50:11.756809+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH5A1 were set to ",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:49:58.374520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 50 unrelated families reported. Intellectual disability is part of the phenotype, which also includes developmental delay, hypotonia, ataxia, seizures, hyperkinetic behaviour, aggression, and sleep disturbances.; to: Over 50 unrelated families reported. Typically presents post-natally with intellectual disability, hypotonia, ataxia, seizures, hyperkinetic behaviour, aggression, and sleep disturbances.",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:49:34.620452+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALDH5A1: Changed rating: RED",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:48:46.402439+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH4A1 as ready",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:48:46.391147+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh4a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:48:42.944649+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH4A1 were changed from to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:48:17.362124+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH4A1 were set to ",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:47:44.316004+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:47:11.078994+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9700195, 34037900, 31884946; Phenotypes: Hyperprolinemia, type II MIM#239510, disorders of ornithine or proline metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:46:06.106490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH4A1 as ready",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:46:06.092691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh4a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:45:57.760815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH4A1 were changed from to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:45:38.834309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH4A1 were set to ",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:45:10.522324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:44:48.997200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9700195, 34037900, 31884946; Phenotypes: Hyperprolinaemia, type II, MIM# 239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:43:18.679146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1616",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: TWIST2 as ready",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:43:18.674302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1616",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Congenital conditions associated with multiple fetal anomalies including ambiguous genitalia, microtia, macrostomia",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:43:18.649639+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1616",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: twist2 has been classified as Green List (High Evidence).",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:43:01.229686+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH4A1 as ready",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:43:01.219891+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh4a1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:42:34.877353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH4A1 were changed from HYPERPROLINEMIA TYPE 2 to Hyperprolinaemia, type II, MIM# 239510",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:42:20.439140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH4A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperprolinaemia, type II, MIM# 239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:40:47.319472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1615",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26119818, 20691403; Phenotypes: Ablepharon-macrostomia syndrome, MIM# 200110, Barber-Say syndrome, MIM# 209885, Focal facial dermal dysplasia 3, Setleis type, MIM# 227260; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:39:36.328801+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TXNL4A.\nTag 5'UTR tag was added to gene: TXNL4A.",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:39:09.928168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNL4A were changed from BURN MCKEOWN SYNDROME to Burn-McKeown syndrome, MIM# 608572",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:38:58.284185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TXNL4A were set to ",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:38:41.922526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:38:16.767430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VLDLR as ready",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:38:16.757338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vldlr has been classified as Green List (High Evidence).",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:38:06.568868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:37:47.178012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VLDLR were set to ",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:37:28.292082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:37:07.935144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:35:51.405413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:35:40.704094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VLDLR were changed from CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:35:27.287585+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VLDLR were set to ",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:22:52.443222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: TXNL4A as ready",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:22:52.431773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:22:26.221018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: BURN-MCKEOWN SYNDROME, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:11:53.723549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: VLDLR as ready",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:11:53.712188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: vldlr has been classified as Green List (High Evidence).",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-29T13:11:17.692747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:42:58.238495+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTF2 as ready",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:42:58.227243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:42:51.838924+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSTF2 as Amber List (moderate evidence)",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:42:51.823786+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:42:25.169227+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSTF2 was added\ngene: CSTF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CSTF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CSTF2 were set to 32816001\nPhenotypes for gene: CSTF2 were set to Intellectual disability\nReview for gene: CSTF2 was set to AMBER\nAdded comment: Four individuals from a single family, spanning two generations, segregating a missense variant. Functional data, including a mouse model and a gene reporter assay. \nSources: Literature",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:41:32.898956+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTF2 as ready",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:41:32.888903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:41:05.017597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSTF2 as Amber List (moderate evidence)",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:41:04.995925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-26T16:40:01.234897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSTF2 was added\ngene: CSTF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CSTF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CSTF2 were set to 32816001\nPhenotypes for gene: CSTF2 were set to Intellectual disability\nReview for gene: CSTF2 was set to AMBER\nAdded comment: Four individuals from a single family, spanning two generations, segregating a missense variant. Functional data, including a mouse model and a gene reporter assay. \nSources: Literature",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:29:06.890269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALAD as ready",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:29:06.868734+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alad has been classified as Green List (High Evidence).",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:28:56.738594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALAD were changed from to Porphyria, acute hepatic , MIM#612740",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:28:21.600330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALAD were set to ",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:27:51.757715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALAD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:27:34.051809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16343966, 30724374, 2063868, 1569184, 15303011; Phenotypes: Porphyria, acute hepatic , MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:22:08.269542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALAD as ready",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:22:08.258861+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alad has been classified as Red List (Low Evidence).",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:22:04.440713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALAD were changed from ACUTE HEPATIC PORPHYRIA to Porphyria, acute hepatic , MIM#612740",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T20:21:49.683982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALAD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, acute hepatic , MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2021-12-23T18:41:23.450193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCR were changed from to [Low density lipoprotein cholesterol level QTL 3]",
"entity_name": "HMGCR",
"entity_type": "gene"
},
{
"created": "2021-12-23T18:40:58.048523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCR as ready",
"entity_name": "HMGCR",
"entity_type": "gene"
},
{
"created": "2021-12-23T18:40:58.038875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcr has been classified as Red List (Low Evidence).",
"entity_name": "HMGCR",
"entity_type": "gene"
},
{
"created": "2021-12-23T18:40:47.372530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGCR were set to ",
"entity_name": "HMGCR",
"entity_type": "gene"
},
{
"created": "2021-12-23T18:40:24.670115+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMGCR as Red List (low evidence)",
"entity_name": "HMGCR",
"entity_type": "gene"
},
{
"created": "2021-12-23T18:40:24.658821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcr has been classified as Red List (Low Evidence).",
"entity_name": "HMGCR",
"entity_type": "gene"
}
]
}