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{
"count": 221277,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1047",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1045",
"results": [
{
"created": "2022-01-14T17:21:37.754819+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4435",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: 9 patients from 5 unrelated families reported with heterozygous truncating mutations in the SIN3A gene. Features include intellectual disability, ASD, seizures, dysmorphism, short stature, microcephaly, joint hypermotility, and small hands and feet. Brain imaging showed dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. Suitable for fetal anomalies panel.; to: 9 patients from 5 unrelated families reported with heterozygous truncating mutations in the SIN3A gene. Features include intellectual disability, ASD, seizures, dysmorphism, short stature, microcephaly, joint hypermotility, and small hands and feet. Brain imaging showed dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. ",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:21:33.371737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2235",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SIN3A as Green List (high evidence)",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:21:33.358741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2235",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sin3a has been classified as Green List (High Evidence).",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:21:24.242944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4435",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM # 613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:21:21.427088+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2234",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM # 613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:18:04.571657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCY2C as ready",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:18:04.557742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gucy2c has been classified as Green List (High Evidence).",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:17:58.803583+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCY2C were changed from MECONIUM ILEUS; FAMILIAL DIARRHEA DIARRHEA 6 to Meconium ileus, MIM# 614665",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:17:46.440151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCY2C were set to ",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:17:34.204494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUCY2C was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:17:18.846470+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 33883099, 31079856; Phenotypes: Meconium ileus, MIM# 614665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:16:04.823768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2231",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC20A1 as Green List (high evidence)",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:16:04.814402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2231",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc20a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:15:53.286797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2230",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC20A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32850778, 27013921; Phenotypes: Bladder-Exstrophy-Epispadias Complex (BEEC) , no OMIM #; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:14:54.034115+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H5 as ready",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:14:54.023788+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Green List (High Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:14:49.602883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2H5 were changed from TRICHOTHIODYSTROPHY PHOTOSENSITIVE to Trichothiodystrophy 3, photosensitive (MIM# 616395)",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:14:36.685534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF2H5 were set to ",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:13:07.442655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2B as ready",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:13:07.429031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:13:02.939663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2B were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; AUTISM; EPILEPTIC ENCEPHALOPATHY to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:12:49.420090+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2B were set to ",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:12:38.498677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:11:41.401690+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2225",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC25A19 as Red List (low evidence)",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:11:41.391256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2225",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:11:35.039622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN1 as ready",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:11:35.021739+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin1 has been classified as Green List (High Evidence).",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:11:30.529828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2224",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC25A19: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12185364; Phenotypes: Microcephaly, Amish type, OMIM # 607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), OMIM #613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:11:29.724374+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:10:52.209172+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN1 were set to ",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:10:40.382382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:09:57.960650+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:09:57.950933+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Green List (High Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:09:54.273839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPSM2 were changed from CHUDLEY-MCCULLOUGH SYNDROME to Chudley-McCullough syndrome, MIM# 604213",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:09:41.886032+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPSM2 were set to ",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:08:53.202741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC3 as ready",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:08:53.191871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Green List (High Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:08:45.920613+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPI as ready",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:08:45.910505+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpi has been classified as Green List (High Evidence).",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:08:41.252900+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPI were set to ",
"entity_name": "GPI",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:03:48.578452+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2218",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC24A4 as Red List (low evidence)",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:03:48.567804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2218",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc24a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:03:38.095031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2217",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC24A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:02:45.493905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2217",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SMOC2 as Red List (low evidence)",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:02:45.478269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2217",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: smoc2 has been classified as Red List (Low Evidence).",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:02:32.969145+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2216",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SMOC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:01:03.996355+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2216",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SMS as Red List (low evidence)",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:01:03.983641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2216",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sms has been classified as Red List (Low Evidence).",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:00:52.622916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2215",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR) is an X-linked intellectual disability syndrome with characteristic features including facial asymmetry, marfanoid habitus, unsteady gait, thickened lower lip, nasal dysarthric speech, narrow or cleft palate, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia. Does not present antenatally/perinatally. Not suitable for fetal anomalies panel.; to: X-linked syndromic intellectual developmental disorder with characteristic features including dysmorphism, marfanoid habitus, unsteady gait, nasal dysarthric speech, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia. Does not present antenatally. Not suitable for fetal anomalies panel.",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:59:57.147480+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2215",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SMS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:57:28.995931+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2215",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SRP54 as Red List (low evidence)",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:57:28.986542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2215",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Red List (Low Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:57:18.903740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2214",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SRP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:56:13.336862+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2214",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: STX1B as Red List (low evidence)",
"entity_name": "STX1B",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:56:13.326755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2214",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: stx1b has been classified as Red List (Low Evidence).",
"entity_name": "STX1B",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:56:00.893325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2213",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: STX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "STX1B",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:55:15.234698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2213",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SYN1 as Red List (low evidence)",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:55:15.225016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2213",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: syn1 has been classified as Red List (Low Evidence).",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:55:02.719859+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2212",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SYN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:49:54.088563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2212",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SZT2 as Green List (high evidence)",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:49:54.074340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2212",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: szt2 has been classified as Green List (High Evidence).",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:49:44.238531+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2211",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:45:53.909269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2211",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SPTAN1 as Red List (low evidence)",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:45:53.898408+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2211",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Red List (Low Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:45:38.409363+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2210",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:45:08.959519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:44:48.215200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:44:27.868785+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:42:24.537790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC3 as ready",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:42:24.523266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Green List (High Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:42:20.724024+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPC3 were changed from SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:38:08.051061+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2209",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EXOC3L2 as Green List (high evidence)",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:38:08.038351+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2209",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: exoc3l2 has been classified as Green List (High Evidence).",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:37:56.785493+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2208",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30327448, 34974531; Phenotypes: Dandy-Walker malformation, no OMIM #; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:30:52.757161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GORAB as ready",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:30:52.745738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gorab has been classified as Green List (High Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:30:44.925352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum to Geroderma osteodysplasticum MIM#231070",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:30:30.872587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GORAB were set to ",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:30:11.849578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2206",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EXPH5 as Green List (high evidence)",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:30:11.837109+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2206",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: exph5 has been classified as Green List (High Evidence).",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:30:09.024923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Reviewed against assessment by GEL curation team: agree ID is not a predominant feature of this condition.; to: Joint laxity including hip dislocation; microcephaly reported.",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:30:00.377644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2205",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23176819, 32176379, 26211931, 27384765, 27730671; Phenotypes: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM #615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:29:47.997427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:29:44.029241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GORAB: Changed rating: GREEN",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:27:39.324068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPTG as ready",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:27:39.311909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptg has been classified as Red List (Low Evidence).",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:27:35.809363+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPTG were changed from MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:27:19.115743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNPTG were set to ",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:27:06.594912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNPTG as Red List (low evidence)",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:27:06.583008+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptg has been classified as Red List (Low Evidence).",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:26:20.155576+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ELMO2 as Red List (low evidence)",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:26:20.145047+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: elmo2 has been classified as Red List (Low Evidence).",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:26:19.041950+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ELMO2 as Red List (low evidence)",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:26:19.030419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: elmo2 has been classified as Red List (Low Evidence).",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:26:07.467240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ELMO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:25:04.150428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mucolipidosis type III gamma is characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. More than 20 unrelated families reported, mouse model.; to: Mucolipidosis type III gamma is characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. More than 20 unrelated families reported, mouse model.\r\n\r\nProgressive metabolic disorder with childhood onset.",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:24:52.425106+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DCC as Green List (high evidence)",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:24:52.414993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dcc has been classified as Green List (High Evidence).",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:24:45.512586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNPTG: Changed rating: RED",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-01-14T16:24:40.805653+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2200",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20431009, 31697046, 21242494, 28250454, 28250456; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DCC",
"entity_type": "gene"
}
]
}