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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1141",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1139",
"results": [
{
"created": "2021-11-08T14:44:03.737187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspa has been classified as Green List (High Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:43:58.666178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPA were changed from CANAVAN DISEASE to Canavan disease, MIM# 271900",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:43:42.705805+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease, MIM# 271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:42:28.644895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASNS as ready",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:42:28.635540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asns has been classified as Green List (High Evidence).",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:42:18.200627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASNS were changed from to Asparagine synthetase deficiency, MIM#615574",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:41:57.032144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASNS were set to ",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:41:36.184648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:41:16.747426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASNS: Changed publications: 24139043",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:40:48.490814+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASNS were set to ",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:40:33.698031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASNS: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:40:24.649692+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASNS: Changed publications: 24139043",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:40:16.971033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASNS as ready",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:40:16.960574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asns has been classified as Green List (High Evidence).",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:39:48.788105+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency 615574 to Asparagine synthetase deficiency, MIM#615574",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:39:30.913261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive neurometabolic disorder, with high mortality in infancy but severe intellectual disability in those surviving longer.; to: Progressive neurometabolic disorder, with high mortality in infancy but severe intellectual disability in those surviving longer.\r\n\r\nMicrocephaly is present antenatally.",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:38:38.320721+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASCC1 as ready",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:38:38.310115+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascc1 has been classified as Green List (High Evidence).",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:37:51.554514+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASCC1 were changed from spinal muscular atrophy; hypotonia; contractures; fetal akinesia; arthrogryposis to Spinal muscular atrophy with congenital bone fractures 2 MIM#616867",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:37:08.494294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH1 as ready",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:37:08.483339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Green List (High Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:37:04.638494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASAH1 were changed from SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY; FARBER LIPOGRANULOMATOSIS to Farber lipogranulomatosis, MIM# 228000",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:36:51.251292+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASAH1 were set to ",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:36:31.683253+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11241842; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:33:17.633446+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:33:17.624522+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Green List (High Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:33:13.976591+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1; PARTINGTON SYNDROME; MENTAL RETARDATION X-LINKED ARX-RELATED; LISSENCEPHALY X-LINKED TYPE 2 to Hydranencephaly with abnormal genitalia, MIM# 300215; Lissencephaly, X-linked 2, MIM# 300215",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:33:00.497814+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARX were set to ",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:32:46.898011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome; to: X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype. LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome.\r\n\r\nVariants in this gene can also cause ID/EE in the absence of congenital anomalies.",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:32:01.913943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:31:51.711941+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARX: Added comment: X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome; Changed rating: GREEN; Changed publications: 14722918, 12379852, 14722918; Changed phenotypes: Hydranencephaly with abnormal genitalia, MIM# 300215, Lissencephaly, X-linked 2, MIM# 300215",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:31:28.117789+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.185",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:31:28.102252+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.185",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:31:00.910322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.185",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SAMHD1 were changed from AICARDI-GOUTIERES SYNDROME to Aicardi-Goutieres syndrome 5, MIM#612952",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:30:46.973286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.184",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SAMHD1 were set to ",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:30:18.548425+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.183",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21102625; Phenotypes: Aicardi-Goutieres syndrome 5, MIM#612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:29:31.961212+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSE as ready",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:29:31.950320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arse has been classified as Green List (High Evidence).",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:29:28.252103+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSE were changed from CHONDRODYSPLASIA PUNCTATA 1, X-LINKED to Chondrodysplasia punctata, X-linked recessive, MIM# 302950",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:29:12.790844+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Note HGNC approved name is ARSL.; to: Well established gene-disease association. Note HGNC approved name is ARSL. Multiple skeletal anomalies detectable prenatally.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:26:55.294602+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSB as ready",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:26:55.284797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsb has been classified as Green List (High Evidence).",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:26:51.906720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSB were changed from MUCOPOLYSACCHARIDOSIS TYPE 6 to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:26:39.515386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARSB were set to ",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:26:24.993991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association.; to: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association.\r\n\r\nPerinatal presentation is uncommon but reported with oedema and skeletal changes.",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:26:04.292926+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARSB: Changed publications: 11668612, 1301949",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:23:59.547274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:23:59.535312+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Red List (Low Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:23:55.691714+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSA were changed from ARYLSULFATASE A DEFICIENCY to Metachromatic leukodystrophy, MIM# 250100",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:23:50.170182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.179",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Source Genomics England PanelApp was removed from SAMD9.\nSource Literature was added to SAMD9.\nPhenotypes for gene: SAMD9 were changed from MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy to MIRAGE syndrome, MIM#617053",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:23:40.880855+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARSA as Red List (low evidence)",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:23:40.868423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Red List (Low Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:23:29.452226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:23:04.793742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.177",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SAMD9 as ready",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:23:04.782276+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.177",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: samd9 has been classified as Green List (High Evidence).",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:22:42.131263+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.177",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27182967; Phenotypes: MIRAGE syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:22:00.174303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARMC9 as ready",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:22:00.162286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc9 has been classified as Green List (High Evidence).",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:21:56.197687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30 to Joubert syndrome 30, MIM# 617622",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:21:44.923011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARMC9 were set to ",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:21:22.671273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 23849778 - 10 unrelated families with CDP, patients were homozygous for mostly PTCs but also missense.; to: PMID: 23849778 - 10 unrelated families with CDP, patients were homozygous for mostly PTCs but also missense. Laterality defects in approx 50%.",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:21:04.458861+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARMC4 as ready",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:21:04.448544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc4 has been classified as Green List (High Evidence).",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:20:43.657057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARMC4 were changed from CILIARY DYSKINESIA, PRIMARY, 23 to Ciliary dyskinesia, primary, 23, MIM# 615451",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:20:32.083387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARMC4 were set to ",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:20:12.371735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL6 as ready",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:20:12.362557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl6 has been classified as Green List (High Evidence).",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:20:09.037705+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6 were changed from RETINITIS PIGMENTOSA TYPE 55; BARDET-BIEDL SYNDROME TYPE 3 to Bardet-Biedl syndrome 3, MIM# 600151",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:19:47.601141+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL6 were set to ",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:19:25.359205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL13B as ready",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:19:25.349971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl13b has been classified as Green List (High Evidence).",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:19:05.400708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID1B as ready",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:19:05.391080+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1b has been classified as Green List (High Evidence).",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:19:01.788069+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARID1B were changed from COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 to Coffin-Siris syndrome 1, MIM 135900",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:18:48.924275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARID1B were set to ",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:18:31.927897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARID1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:18:18.543948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1, MIM 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:17:14.647448+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID1A as ready",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:17:14.638275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1a has been classified as Green List (High Evidence).",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:17:10.654790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARID1A were changed from COFFIN-SIRIS SYNDROME to Coffin-Siris syndrome 2 (MIM#614607)",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:16:56.943442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARID1A were set to ",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:16:46.417198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARID1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:16:32.384322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23929686, 22426308, 25168959; Phenotypes: Coffin-Siris syndrome 2 (MIM#614607); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:14:46.875975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGAP31 as ready",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:14:46.864806+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap31 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:14:42.631476+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP31 were changed from ADAMS-OLIVER SYNDROME 1 to Adams-Oliver syndrome 1, MIM#100300",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:14:28.911650+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGAP31 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:14:16.722608+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Classically cutis aplasia and transverse limb defects with normal cognition, intellectual disability rare.; to: Classically cutis aplasia and transverse limb defects with normal cognition.",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:14:00.681827+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARHGAP31: Changed rating: GREEN",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:13:34.721720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARCN1 as ready",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:13:34.712138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arcn1 has been classified as Green List (High Evidence).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:13:30.724449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to 27476655",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:13:17.058984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:12:36.922388+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AR as ready",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:12:36.912542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ar has been classified as Green List (High Evidence).",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:12:32.617573+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME to Androgen insensitivity, MIM# 300068",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:12:15.825729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive neurological condition, ID is not part of the phenotype.; to: DSD.",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:11:58.527676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AR: Changed rating: GREEN; Changed phenotypes: Androgen insensitivity, MIM# 300068",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:05:11.410754+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4E1 as ready",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:05:11.397927+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4e1 has been classified as Green List (High Evidence).",
"entity_name": "AP4E1",
"entity_type": "gene"
}
]
}