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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=615",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=613",
"results": [
{
"created": "2023-04-09T18:29:55.249963+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROBO1 were changed from Syndromic disease, MONDO:0002254; CAKUT to Neurooculorenal syndrome, MIM#\t620305",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:29:17.696044+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ROBO1: Changed phenotypes: Neurooculorenal syndrome, MIM# 620305",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:28:57.362696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROBO1 were changed from Congenital heart disease; Pituitary anomalies; Nystagmus 8, congenital, autosomal recessive, MIM# 257400; intellectual disability, MONDO:0001071 to Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303; Nystagmus 8, congenital, autosomal recessive, MIM# 257400; Neurooculorenal syndrome, MIM# 620305",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:28:33.358755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ROBO1: Changed phenotypes: Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303, Nystagmus 8, congenital, autosomal recessive, MIM# 257400, Neurooculorenal syndrome, MIM# 620305",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:26:48.850438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROBO1 were set to 28592524; 30530901; 30692597; 33270637; 28402530; 33270637; 28402530; 35348658",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:26:21.794835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ROBO1: Changed publications: 28286008, 30692597, 35227688, 35348658, 28592524, 30530901, 33270637, 28402530",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:23:58.820848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROBO1 were changed from Congenital heart disease; Pituitary anomalies to Congenital heart disease; Pituitary anomalies; Nystagmus 8, congenital, autosomal recessive, MIM# 257400; intellectual disability, MONDO:0001071",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:23:29.538835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROBO1 were set to 28592524; 30530901; 30692597; 33270637; 28402530",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:22:49.788736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ROBO1: Added comment: Association with ID: GREEN for bi-allelic variants:\r\n\r\nPMID:28286008 reported a boy with compound heterozygous variants that was presented with developmental delay in 13 months and had severe intellectual disability and hyperactivity at nine years of age. He was nonverbal and wheelchair dependent because of spastic diplegia and ataxia.\r\n\r\nPMID:30692597 reported a five year old boy identified with a homozygous ROBO1 variant who had combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus and characteristic facial features.\r\n\r\nPMID:35227688 reported eight patients including the boy reported in PMID:30692597. Of the other seven patients, three were presented with intellectual disability. Of these three patients, two harboured compound heterozygous and one harboured homozygous variants.\r\n\r\nPMID:35348658 reported a patient identified with monoallelic de novo variant (p.D422G) who presented with early-onset epileptic encephalopathy and had severe developmental delay.; Changed phenotypes: Congenital heart disease, Pituitary anomalies, Nystagmus 8, congenital, autosomal recessive, MIM# 257400, intellectual disability, MONDO:0001071",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:21:09.598488+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROBO1 as ready",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:21:09.591075+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo1 has been classified as Red List (Low Evidence).",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:20:49.548175+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROBO1 as Red List (low evidence)",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:20:49.533496+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo1 has been classified as Red List (Low Evidence).",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:20:36.087955+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 35348658: three male siblings from the same family with nystagmus with a homozygous missense variant p.Ser1522Leu.; to: PMID 35348658: three male siblings from the same family with nystagmus with a homozygous missense variant p.Ser1522Leu. This association is RED.",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:20:18.716326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ROBO1: Added comment: PMID 35348658: three male siblings from the same family with nystagmus with a homozygous missense variant p.Ser1522Leu.; Changed publications: 28592524, 30530901, 30692597, 33270637, 28402530, 35348658; Changed phenotypes: Congenital heart disease, Pituitary anomalies, Nystagmus 8, congenital, autosomal recessive, MIM# 257400",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:18:40.671150+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ROBO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nystagmus 8, congenital, autosomal recessive, MIM# 257400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:18:00.859953+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROBO1 as ready",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:18:00.847749+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo1 has been classified as Green List (High Evidence).",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:17:49.184273+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROBO1 as Green List (high evidence)",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:17:49.176712+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo1 has been classified as Green List (High Evidence).",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:16:51.621077+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMSAP1 were changed from lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related to Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:16:05.708987+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:15:46.765708+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMSAP1 were changed from lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related to Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:15:13.447284+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:14:52.558899+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMSAP1 were changed from lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related to Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:14:11.411625+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:13:53.790264+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMSAP1 were changed from lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related to Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:13:19.888238+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:12:54.753994+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMSAP1 were changed from lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related to Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:12:32.925971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:12:10.499647+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMSAP1 were changed from lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related to Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:11:32.595059+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:08:42.145172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR3 were changed from Congenital myopathy 20, MIM# 620310 to Congenital myopathy 20, MIM# 620310; developmental and epileptic encephalopathy (MONDO:0100062)",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:08:18.960394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RYR3 were set to 29498452; 32451403; 31230720",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:07:53.820372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:07:31.081838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR3 were changed from Nemaline myopathy; fetal akinesia; arthrogryposis to Congenital myopathy 20, MIM# 620310",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2023-04-09T18:07:00.508304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RYR3: Changed phenotypes: Congenital myopathy 20, MIM# 620310",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2023-04-09T13:03:22.880695+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.47",
"user_name": "Calder Hamill",
"item_type": "entity",
"text": "gene: BCL11B was added\ngene: BCL11B was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BCL11B were set to 36980886; 34900871\nPhenotypes for gene: BCL11B were set to Craniosynostosis\nPenetrance for gene: BCL11B were set to Incomplete\nReview for gene: BCL11B was set to GREEN\nAdded comment: The potential gene disease association between BCL11B and craniosynostosis was a topic in Tooze, R.S.; Calpena, E.; Weber, A.; Wilson, L.C.; Twigg, S.R.F.; Wilkie, A.O.M. Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 2023, 14, 615. https://doi.org/10.3390/ genes14030615\r\n\r\nSummary of evidence:\r\n>There are seven families with variants in BCL11B and confirmed craniosynostosis\r\n>There are two green reviews in UK Panel App\r\n\r\n>A de novo substitution was described in BCL11B (c.7C>A; p.(Arg3Ser)) - further mouse model data\r\nGoos, J.A.C.; Vogel, W.K.; Mlcochova, H.; Millard, C.J.; Esfandiari, E.; Selman, W.H.; Calpena, E.; Koelling, N.; Carpenter, E.L.; Swagemakers, S.M.A.; et al. A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis. Hum. Mol. Genet. 2019, 28, 2501–2513.\r\n\r\n> a de novo frameshift variant in BCL11B, identified by whole-exome sequencing: c.2346_2361del; p.(Gly783Alafs*24)\r\nZhao, X.; Wu, B.; Chen, H.; Zhang, P.; Qian, Y.; Peng, X.; Dong, X.; Wang, Y.; Li, G.; Dong, C.; et al. Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay. Front. Pediatr. 2022, 10, 982361\r\n\r\n> A de novo loss of function variant has been described in a patient with developmental delay and craniosynostosis: c.2439_2452dup; p.(His818Argfs*31) \r\nEto, K.; Machida, O.; Yanagishita, T.; Shimojima Yamamoto, K.; Chiba, K.; Aihara, Y.; Hasegawa, Y.; Nagata, M.; Ishihara, Y.; Miyashita, Y.; et al. Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis. Hum. Genome Var. 2022, 9, 43\r\n\r\nThe following evidence first noted from review by Helen Lord in UK PanelApp:\r\nPMID 34900871 Gaillard et al, 2021, reported 4 patients with BCL11B variants\r\nPatient A: c.2000G>A p.(Gly667Glu) het left sided congernital diaphragmatic hernia (CDH) and progressive sagittal synostosis. Maternally inherited.\r\nPatient B: c.1744G>A p.(Gly582Ser) het sagittal and bilambdoid synostosis. Paternally inherited.\r\nPatient C: c.2018C>G p.(Pro673Arg) het left unicoronal synostosis. Maternally inherited.\r\nPatient D: c.1265C>T p.(Pro422Leu) het sagittal synostosis. Maternally inherited.\r\nParentally inherited in some instances suggesting incomplete penetrance \nSources: Literature",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2023-04-09T12:04:24.945886+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.47",
"user_name": "Calder Hamill",
"item_type": "entity",
"text": "gene: NFIA was added\ngene: NFIA was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NFIA were set to 36980886\nPhenotypes for gene: NFIA were set to Craniosynostosis\nPenetrance for gene: NFIA were set to Incomplete\nReview for gene: NFIA was set to AMBER\nAdded comment: A gene which has growing evidence in its association with craniosynostosis, most recently subject to review in in Tooze, R.S.; Calpena, E.; Weber, A.; Wilson, L.C.; Twigg, S.R.F.; Wilkie, A.O.M. Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 2023, 14, 615. https://doi.org/10.3390/ genes14030615\r\n> Four patients with craniosynostosis in independent families reported in the four papers below. \r\n>> deletion of 7765kb including this entire gene - craniosynostosis in chromosome 1p32-p31 deletion syndrome (Yoon 2019)\r\n>> del 1p32.3p31.2, g.53675707_66644963del- 13Mb del including the NFIA gene. (Tonne 2021)\r\n\r\n> Recently given green gene status in UK Panel App (2023)\r\n\r\n1.\tYoon, J.G.; Hahn, H.M.; Choi, S.; Kim, S.J.; Aum, S.; Yu, J.W.; Park, E.K.; Shim, K.W.; Lee, M.G.; Kim, Y.O. Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing. Neurosurgery 2020, 87, 294–302. [\r\n2.\tTønne, E.; Due-Tønnessen, B.J.; Mero, I.L.; Wiig, U.S.; Kulseth, M.A.; Vigeland, M.D.; Sheng, Y.; von der Lippe, C.; Tveten, K.; Meling, T.R.; et al. Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis. Eur. J. Hum. Genet. 2021, 29, 920–929.\r\n3.\tChen, J.; Zhang, P.; Peng, M.; Liu, B.; Wang, X.; Du, S.; Lu, Y.; Mu, X.; Lu, Y.; Wang, S.; et al. An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort. Front. Genet. 2022, 13, 967688.\r\n4.\tTønne, E.; Due-Tønnessen, B.J.; Vigeland, M.D.; Amundsen, S.S.; Ribarska, T.; Asten, P.M.; Sheng, Y.; Helseth, E.; Gilfillan, G.D.; Mero, I.L.; et al. Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways. Am. J. Med. Genet. A 2022, 188, 1464–1475. [CrossRef] [PubMed]\r\n\r\nNote also the additional case report:\r\nBayat, Allana; Kirchhoff, Mariab; Madsen, Camilla G.d; Roos, Laurab; Kreiborg, Svenc,e. Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene. Clinical Dysmorphology 26(3):p 148-153, July 2017. | DOI: 10.1097/MCD.0000000000000182\r\n\r\nHave not provided a high evidence review out of caution that some of the reported mutations have been microdeletions \nSources: Literature",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2023-04-09T11:03:31.790819+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.47",
"user_name": "Calder Hamill",
"item_type": "entity",
"text": "gene: PRRX1 was added\ngene: PRRX1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRRX1 were set to 36980886\nPhenotypes for gene: PRRX1 were set to Craniosynostosis\nPenetrance for gene: PRRX1 were set to Incomplete\nMode of pathogenicity for gene: PRRX1 was set to Other\nReview for gene: PRRX1 was set to GREEN\nAdded comment: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, predicting loss of function variants or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent\r\n(Tooze, R.S.; Calpena, E.; Weber, A.; Wilson, L.C.; Twigg, S.R.F.; Wilkie, A.O.M. Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 2023, 14, 615. https://doi.org/10.3390/ genes14030615)\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development.\r\n(Wilk, K.; Yeh, S.A.; Mortensen, L.J.; Ghaffarigarakani, S.; Lombardo, C.M.; Bassir, S.H.; Aldawood, Z.A.; Lin, C.P.; Intini, G. Postnatal Calvarial Skeletal Stem Cells Expressing PRX1 Reside Exclusively in the Calvarial Sutures and Are Required for Bone Regeneration. Stem Cell Rep. 2017, 8, 933–946.) \r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture.\r\n(Farmer, D.T.; Mlcochova, H.; Zhou, Y.; Koelling, N.; Wang, G.; Ashley, N.; Bugacov, H.; Chen, H.J.; Parvez, R.; Tseng, K.C.; et al. The developing mouse coronal suture at single-cell resolution. Nat. Commun. 2021, 12, 4797) \nSources: Literature",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2023-04-08T21:54:49.893414+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29979980, 19161147, 30014610; Phenotypes: Rajab interstitial lung disease with brain calcifications 1, MIM# 613658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARSB",
"entity_type": "gene"
},
{
"created": "2023-04-08T21:53:34.673307+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "changed review comment from: PMID 31355908 reports a patient with compound heterozygous variants of FARSA who developed brain calcification.\r\nPMID 30014610 reports 5 patients with homozygous variants of FARSA who developed brain calcification. The 5 individuals are from a large consanguineous family. Co-segregation of phenotype and FARSA variant is confirmed. 3 deceased individuals were affected by brain calcification; however, their genotypes are not indicated in the pedigree while the author state that all affected individuals carried the same FARSA variant. The genotypes of the 3 individuals are unsure, so they are not counted.; to: An additional case is reported.\r\nPMID 31355908 reports a patient with compound heterozygous variants of FARSA who developed brain calcification.\r\n",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2023-04-08T19:54:49.270490+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: FOLR1 was added\ngene: FOLR1 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOLR1 were set to 24556562; 27378809\nReview for gene: FOLR1 was set to RED\nAdded comment: Limited evidence supports the causal role of the FOLR1 gene in brain calcification since there are only 2 patients reported.\r\nPMID 24556562 reports a patient with a homozygous variant of FOLR1 (c.610C>T, p.Arg204) who had bilateral calcification within the basal ganglia.\r\nPMID 27378809 reports a patient with a homozygous variant of FOLR1 (c.562C.G, p.Leu188Val) who had brain calcification. \nSources: Expert list",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2023-04-08T00:58:26.146677+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: FAM20C was added\ngene: FAM20C was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20C were set to 27862258; 20825432\nPhenotypes for gene: FAM20C were set to Raine syndrome, MIM# 259775\nReview for gene: FAM20C was set to RED\nAdded comment: PMID 27862258 reports 2 patients with compounded FAM20C variants, who were from the same family, developed brain calcification. Co-segregation of brain calcification and the genotype of compounded FAM20C variants is reported.\r\nPMID 20825432 reports 2 patients with a homozygous FAM20C variant, who were from the same family, developed brain calcification. Co-segregation of brain calcification and the genotype of homozygous FAM20C variants is reported.\r\nAlthough co-segregation of phenotypes and genotypes is seen, the 4 individuals are related so more evidence is required. \nSources: Expert list",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2023-04-08T00:24:17.153551+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31355908, 30014610; Phenotypes: Rajab interstitial lung disease with brain calcifications 2, MIM# 619013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2023-04-07T22:09:48.901513+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5201",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: YWHAE was added\ngene: YWHAE was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: YWHAE were set to 36999555\nPhenotypes for gene: YWHAE were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: YWHAE was set to GREEN\nAdded comment: PMID 36999555 reports 6 patients with YWHAE variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1) who have mild to severe intellectual disability. \nSources: Literature",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-04-07T16:16:53.130573+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.487",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "edited their review of gene: YWHAE: Changed publications: 36999555, 20452996, 19584063, 20599530, 28542865, 29458882",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-04-07T16:11:56.130564+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.487",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: YWHAE was added\ngene: YWHAE was added to Callosome. Sources: Literature\nMode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: YWHAE were set to 36999555; 20452996; 19584063; 20599530\nPhenotypes for gene: YWHAE were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: YWHAE was set to GREEN\nAdded comment: PMID 36999555 reports 10 patients, including 8 new individuals and 2 follow-up individuals with heterozygous YWHAE variants (3 splice site variants, 2 intragenic deletions and 10 large deletions encompassing YWHEA but not PAFAH1B1), who developed neurodevelopmental disease with brain abnormalities. The paper also references 5 patients from the following publications:\r\nPMID 20452996 reports a patient with a YWHAE variant (deletion encompassing YWHEA but not PAFAH1B1) who had neurodevelopmental disease with brain abnormalities and developmental delay.\r\nPMID 19584063 reports a patient with a YWHAE variant (deletion encompassing YWHEA but not PAHAF1B1) who had brain abnormalities and developmental delay. (Patients 2-5 with YWHAE deletions also presented developmental delay and brain abnormalities.)\r\nPMID 20599530 reports a patient with a YWHAE variant (deletion encompassing YWHEA but not PAHAF1B1) who had brain abnormalities and developmental delay. \r\nPMID 28542865 reports a patient with a YWHAE variant (intragenic deletion) who had myoclonic epilepsy and dysgraphia and learning disability related to mathematics. CT scan noted a Chiari Malformation Type I (CM), thin corpus callosum, cavum septum pellucidum and cavum vergae, but the patient's general and neurological exams were normal.\r\nPMID 29458882 reports a fetus with a YWHAE variant (deletion encompassing YWHEA but not PAHAF1B1) who had facial dysmorphisms. The parents decided to terminate the pregnancy so detailed information regarding brain CT and development is not available. Although the authors concluded that the fetus did not have brain abnormalities, PMID 36999555 concludes that this patient had microcephaly (the last supplementary table). \nSources: Literature",
"entity_name": "YWHAE",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:48:40.786643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYN were changed from to Vasculitis, MONDO:0018882, LYN-related",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:48:20.093895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LYN were set to ",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:48:00.254171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:47:41.446797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LYN as Green List (high evidence)",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:47:41.436547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyn has been classified as Green List (High Evidence).",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:47:21.749713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LYN: Rating: GREEN; Mode of pathogenicity: None; Publications: 36932076, 36122175; Phenotypes: Vasculitis, MONDO:0018882, LYN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:42:51.367103+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN2 as ready",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:42:51.359753+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn2 has been classified as Green List (High Evidence).",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:42:46.954920+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN2 as Green List (high evidence)",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:42:46.947862+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn2 has been classified as Green List (High Evidence).",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:42:09.143709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP3K3 as ready",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:42:09.125874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map3k3 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:41:48.736126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAP3K3 as Green List (high evidence)",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:41:48.724677+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map3k3 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:39:14.366679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP3K3 was added\ngene: MAP3K3 was added to Mendeliome. Sources: Literature\nsomatic tags were added to gene: MAP3K3.\nMode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP3K3 were set to 33729480; 35355835; 33891857; 36995941; 10700190; 25728774\nPhenotypes for gene: MAP3K3 were set to Cerebral malformation, MONDO:0016054, MAP3K3-related\nMode of pathogenicity for gene: MAP3K3 was set to Other\nReview for gene: MAP3K3 was set to GREEN\nAdded comment: Recurrent somatic missense variant (p.I441M) identified in sporadic cases of cerebral and spinal cavernous malformation. Recent publication demonstrates that this missense variant can drive CCM formation (in vitro and in vivo studies). \nSources: Literature",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:36:30.127011+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP3K3 were changed from Verrucous venous malformation to Verrucous venous malformation; Cerebral malformation, MONDO:0016054, MAP3K3-related",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:36:01.729298+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP3K3 were set to 10700190; 25728774",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:35:13.774868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VWA8 as ready",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:35:13.763597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwa8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:34:43.178384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VWA8 as Amber List (moderate evidence)",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:34:43.171281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwa8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:30:18.836236+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRIPT were changed from Short stature with microcephaly and distinctive facies (MIM#615789) to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:29:58.989895+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRIPT were set to 24389050; 27250922",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:29:42.316403+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRIPT as Green List (high evidence)",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:29:42.290052+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Green List (High Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:28:23.371402+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRIPT as ready",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:28:23.360170+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Green List (High Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:28:15.680203+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRIPT as Green List (high evidence)",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:28:15.670290+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Green List (High Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:27:35.334739+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRIPT were changed from Short stature with microcephaly and distinctive facies\t(MIM#615789) to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:26:48.438264+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRIPT were set to 24389050; 27250922",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:26:09.825127+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRIPT as Green List (high evidence)",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:26:09.812084+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Green List (High Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:22:37.951695+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ACTC1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-04-06T17:19:38.842346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKL2 as ready",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:19:38.832549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:19:24.942311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MKL2 as Amber List (moderate evidence)",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:19:24.932272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:18:59.799972+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKL2 as ready",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:18:59.789179+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:18:53.541949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTC1 as ready",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:18:53.528096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Green List (High Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:18:40.810510+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTC1 as Green List (high evidence)",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:18:40.799415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Green List (High Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:18:21.764556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 5 MIM#612794, Cardiomyopathy, dilated, 1R MIM#613424, Cardiomyopathy, hypertrophic, 11 MIM#612098, ACTC1 related distal arthrogryposis MONDO:0019942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:17:13.302875+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTC1 were set to 17947298; 31430208",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:16:32.917167+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTC1 as Green List (high evidence)",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:16:32.909911+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Green List (High Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:13:18.459518+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from RNH1-related disorder to Neurodevelopmental disorder, MONDO:0700092, RNH1-related",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:12:44.325737+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:12:24.902125+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from RNH1-related disorder to Neurodevelopmental disorder, MONDO:0700092, RNH1-related",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-04-06T17:11:52.749089+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNH1",
"entity_type": "gene"
}
]
}