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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1084",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1082",
"results": [
{
"created": "2021-12-14T14:46:43.754549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:45:45.281443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXT2 as ready",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:45:45.269412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ext2 has been classified as Green List (High Evidence).",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:45:40.960988+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXT2 were changed from EXOSTOSES, MULTIPLE, TYPE 2 to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Exostoses, multiple, type 2, MIM# 133701",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:45:29.151637+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXT2 were set to ",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:45:16.773281+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:45:01.407644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXT2: Changed phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682, Exostoses, multiple, type 2, MIM# 133701; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:44:14.233318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXT1 as ready",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:44:14.224047+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ext1 has been classified as Green List (High Evidence).",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:44:09.566183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXT1 were changed from HEREDITARY MULTIPLE EXOSTOSES TYPE 1; TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:42:53.750184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXT1 were set to ",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:42:42.305511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:41:49.729067+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC2 as ready",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:41:49.717401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc2 has been classified as Green List (High Evidence).",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:41:45.537362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC2 were changed from ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME to Ellis-van Creveld syndrome (MIM#225500)",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:40:49.704905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EVC2 were set to ",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:39:31.862681+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC as ready",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:39:31.848511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc has been classified as Green List (High Evidence).",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:39:27.226903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC were changed from ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME to Ellis-van Creveld syndrome, MIM# 225500",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:39:11.997128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EVC were set to ",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:38:20.303823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFDH as ready",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:38:20.269076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Green List (High Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:38:15.545953+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFDH were changed from GLUTARIC ACIDURIA TYPE 2C to Glutaric acidemia IIC, MIM#231680",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:37:58.056285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly is a feature.",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:34:49.579578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFB as ready",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:34:49.564700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfb has been classified as Green List (High Evidence).",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:34:45.455457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidaemia IIB, MIM#231680",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:34:26.938527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly is a feature.",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:33:42.397266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFA as ready",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:33:42.386438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfa has been classified as Green List (High Evidence).",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:33:37.672704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, MIM#231680",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:33:21.352064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly a feature.",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:32:02.488761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:32:02.477838+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Green List (High Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:31:57.710411+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESCO2 were changed from ROBERTS SYNDROME; SC PHOCOMELIA SYNDROME to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:31:39.657570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESCO2 were set to ",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:30:16.854484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERF as ready",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:30:16.844903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erf has been classified as Green List (High Evidence).",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:30:07.674176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERF were changed from to Craniosynostosis 4, MIM# 600775; Chitayat syndrome, MIM# 617180",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:29:47.618959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERF were set to ",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:29:03.716488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:28:42.205033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERF: Changed phenotypes: Craniosynostosis 4, MIM# 600775, Chitayat syndrome, MIM# 617180",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:28:20.824502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354439, 26097063, 32370745, 30758909, 27738187; Phenotypes: Craniosynostosis 4, MIM# 600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:26:05.142741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERF as ready",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:26:05.131499+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erf has been classified as Green List (High Evidence).",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:25:58.728306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERF were changed from Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; COMPLEX CRANIOSYNOSTOSIS to Chitayat syndrome, MIM#617180; Craniosynostosis 4, MIM#600775",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:25:45.640748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERF were set to ",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:25:31.678351+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:25:18.219283+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not really part of the phenotype of either condition; mild learning difficulties described in some individuals affected by craniosynostosis 4.; to: Over 20 unrelated families reported. Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis.\r\n\r\nVariants in this gene are also associated with Chitayat syndrome, which has skeletal abnormalities as a feature.",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:24:49.926681+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERF: Changed rating: GREEN; Changed publications: 23354439, 26097063, 32370745, 30758909",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:23:26.776813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:23:26.767416+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:23:22.513591+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from COCKAYNE SYNDROME TYPE B; DE SANCTIS-CACCHIONE SYNDROME; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1; UV-SENSITIVE SYNDROME to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:23:10.221216+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6 were set to ",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:22:35.678298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC5 as ready",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:22:35.661737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:22:31.118113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696 to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:22:17.601159+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC5 were set to 24700531; 32557569; 32052936",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:21:52.049018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, spectrum of severity, with COFS having significant ID, and some patients with XPE having a phenotype that overlaps Cockayne syndrome.; to: Well established gene-disease association, spectrum of severity, with COFS having significant IUGR, and some patients with XPE having a phenotype that overlaps Cockayne syndrome.",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:20:55.055327+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:20:55.037798+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:20:51.080134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from PRIMORDIAL DWARFISM; Xeroderma pigmentosum, group F, 278760; XERODERMA PIGMENTOSUM, GROUP F; XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q to Fanconi anaemia, complementation group Q, MIM# 615272; MONDO:0014108; XFE progeroid syndrome, MIM# 610965",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:20:23.923300+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC4 were set to ",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:20:08.057315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects.; to: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects, and XFE progeroid syndrome, with microcephaly a feature.",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:19:31.592619+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC4: Changed phenotypes: Fanconi aanemia, complementation group Q, MIM# 615272, MONDO:0014108, XFE progeroid syndrome, MIM# 610965",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:18:01.536069+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC1 as ready",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:18:01.526078+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc1 has been classified as Green List (High Evidence).",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:17:54.306297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC1 were changed from FANCONI ANEMIA; CEREBROOCULOFACIOSKELETAL SYNDROME 4 to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:17:41.265731+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC1 were set to ",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:16:55.916128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:16:55.905271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:16:47.879806+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM to Vici syndrome, MIM# 242840",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:16:33.333595+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to ",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:15:43.512533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EOGT as ready",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:15:43.501141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eogt has been classified as Green List (High Evidence).",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:15:35.172705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, MIM#615297",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:15:16.650242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EOGT were set to ",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:14:57.216686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:14:39.068156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 23522784, 31368252, 29924900, 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:13:20.133019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EOGT as ready",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:13:20.122841+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eogt has been classified as Green List (High Evidence).",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:13:16.429867+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EOGT were changed from ADAMS OLIVER SYNDROME to Adams-Oliver syndrome 4, MIM#615297",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:13:02.649340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EOGT were set to ",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:12:39.561598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EOGT: Changed rating: GREEN",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:12:32.807329+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:10:16.277951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADSL as ready",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:10:16.267722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adsl has been classified as Green List (High Evidence).",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:10:06.353323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency MIM#103050",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:09:48.114721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADSL were set to ",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:09:29.271074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:09:10.862449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADSL as ready",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:09:10.850317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adsl has been classified as Green List (High Evidence).",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:09:06.359016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADSL were set to ",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:08:50.689395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADSL: Changed publications: 1302001, 22180458, 18524658, 27626380",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:08:14.338539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADSL were changed from ADENYLOSUCCINASE DEFICIENCY to Adenylosuccinase deficiency, MIM# 103050",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:07:58.526744+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenylosuccinase deficiency, MIM# 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-12-14T10:13:36.840421+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RASA2 were changed from to Rasopathy",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2021-12-14T09:48:31.355795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established association with cardiomyopathies. Four families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD. Two had the same variant, founder.",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-12-14T09:44:44.467745+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ACTC1.",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-12-14T09:44:27.179550+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTC1 as Amber List (moderate evidence)",
"entity_name": "ACTC1",
"entity_type": "gene"
}
]
}