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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=362",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=360",
"results": [
{
"created": "2024-10-23T19:20:12.773354+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-10-23T19:19:30.602624+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ISPD were set to 23288328",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-10-23T19:18:50.913813+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ISPD were set to ",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-10-23T19:18:03.476260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ISPD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-10-23T19:15:40.813943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-10-23T19:14:47.100600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-10-23T17:38:28.810307+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23288328; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-10-23T17:25:08.793827+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24013853; Phenotypes: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2024-10-23T17:22:13.041725+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113859; Phenotypes: Mitochondrial disease MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-10-23T17:18:17.902335+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392078, 30142437, 29074562; Phenotypes: PERCHING syndrome MONDO:0014890, acrocallosal syndrome MONDO:0008708; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2024-10-23T17:08:24.061085+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301500; Phenotypes: acrocallosal syndrome MONDO:0008708, KIF7-related ciliopathy MONDO:0800463, Joubert syndrome 12 MIM#200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2024-10-23T17:01:10.968132+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 18853458; Phenotypes: Spastic paraplegia 10, autosomal dominant, MIM# 604187, inherited neurodegenerative disorder MONDO:0024237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2024-10-23T16:00:42.198573+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.470",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: LAT: Rating: ; Mode of pathogenicity: None; Publications: 27353087, 27522155, 27242165, 10204488; Phenotypes: Immunodeficiency 52, MIM# 617514, severe combined immunodeficiency due to LAT deficiency MONDO:0044721; Mode of inheritance: None",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2024-10-23T14:00:20.259788+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.470",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 29024068; Phenotypes: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001, MONDO:0010976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2024-10-23T13:54:06.412253+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.470",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16505000; Phenotypes: Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707, MONDO:0700245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2024-10-23T13:10:04.138023+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.470",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239382, 32358097, 32808430; Phenotypes: Intellectual developmental disorder, autosomal recessive 41 (MIM#615637); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2024-10-23T12:35:28.874524+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.470",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "changed review comment from: Rothmund-Thomson Syndrome, Type 2\t\r\n- Osteosarcoma in 23 patients\r\nRAPADILINO Syndrome\r\n\t- 10 finnish families\r\n\t\t○ Short stature\r\n\t\t○ Radial ray defects\r\n\t\t○ Infantile diarrhoea \r\n\t- No significant cancer risk\r\n\r\nBaller-Gerold Syndrome\r\n\t- Radial aplasia/hypoplasia \r\n\t- Craniosynostosis\r\n\t\t\r\nClinical overlap between all three phenotypes\r\nMost cases in infancy and childhood\r\nSevere phenotype: neonatal death, respiratory failure\r\nAtypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607); to: Rothmund-Thomson Syndrome, Type 2\t\r\n- Osteosarcoma in 23 patients\r\n\r\nRAPADILINO Syndrome\r\n\t- 10 finnish families\r\n\t\t○ Short stature\r\n\t\t○ Radial ray defects\r\n\t\t○ Infantile diarrhoea \r\n\t- No significant cancer risk\r\n\r\nBaller-Gerold Syndrome\r\n\t- Radial aplasia/hypoplasia \r\n\t- Craniosynostosis\r\n\t\t\r\nClinical overlap between all three phenotypes\r\nMost cases in infancy and childhood\r\nSevere phenotype: neonatal death, respiratory failure\r\nAtypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607)",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-10-23T12:35:15.138348+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.470",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 39315607, 39324487, 12952869, 15964893, 10319867, 12734318; Phenotypes: Baller-Gerold syndrome, MIM# 218600, RAPADILINO syndrome, MIM# 266280, Rothmund-Thomson syndrome, type 2,MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-10-23T12:01:54.194041+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.470",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: KCNJ10: Rating: ; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 11466414, 38979912; Phenotypes: SESAME syndrome, MIM# 612780, EAST syndrome, MONDO:0013005, Enlarged vestibular aqueduct, digenic, MIM#600791, autosomal recessive nonsyndromic hearing loss 4, MONDO:0010933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2024-10-23T11:41:26.608936+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.470",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215, 34211432; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2024-10-23T11:30:32.696563+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.470",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 1033958, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:22:31.952476+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:21:47.236356+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHSRX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:20:53.488160+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHRSX: Changed phenotypes: congenital disorder of glycosylation, MONDO:0015286, DHRSX-related",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:20:30.535797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRSX as ready",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:20:30.508642+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:20:24.180326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRSX as Green List (high evidence)",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:20:24.167846+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:20:08.550620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHRSX was added\ngene: DHRSX was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRSX were set to 38821050\nPhenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related\nReview for gene: DHRSX was set to GREEN\nAdded comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.\r\n\r\nIn PAR.\r\n\r\nContractures and brain anomalies may be detectable antenatally. \nSources: Literature",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:18:34.052169+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRSX as ready",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:18:34.038440+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:18:27.739564+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRSX as Green List (high evidence)",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:18:27.725659+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T20:17:29.973253+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHRSX was added\ngene: DHRSX was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRSX were set to 38821050\nPhenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related\nReview for gene: DHRSX was set to GREEN\nAdded comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs. \r\n\r\nGene in PAR. \nSources: Literature",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:56:39.778297+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRSX as ready",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:56:39.762667+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:08:05.957997+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRSX as Green List (high evidence)",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:08:05.945503+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:07:03.995330+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHRSX was added\ngene: DHRSX was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRSX were set to 38821050\nPhenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related\nReview for gene: DHRSX was set to GREEN\nAdded comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.\r\n\r\nGene in PAR. \nSources: Literature",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:05:13.411682+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRSX as ready",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:05:13.388153+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:05:05.169761+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRSX as Green List (high evidence)",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:05:05.147961+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:04:24.053696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHRSX: Changed rating: GREEN",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:03:52.753864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHRSX was added\ngene: DHRSX was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRSX were set to 38821050\nPhenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related\nAdded comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.\r\n\r\nGene located in PAR. \nSources: Literature",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:03:04.575976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRSX as ready",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:03:04.562446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:01:29.436244+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRSX as ready",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T19:01:29.419003+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:49:34.336914+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRSX as Green List (high evidence)",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:49:34.323721+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:48:32.616141+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHRSX was added\ngene: DHRSX was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRSX were set to 38821050\nPhenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHSRX-related\nReview for gene: DHRSX was set to GREEN\nAdded comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.\r\n\r\nNote gene is in PAR. \nSources: Literature",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:45:05.812412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRSX as Green List (high evidence)",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:45:05.795878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrsx has been classified as Green List (High Evidence).",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:39:02.141282+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMF1 as ready",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:39:02.094929+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:38:58.943123+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMF1 were changed from to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:38:11.097507+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMF1 as Green List (high evidence)",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:38:11.086966+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:36:24.674479+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPR1 as ready",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:36:24.643111+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpr1 has been classified as Green List (High Evidence).",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:36:18.108369+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR1 were changed from to aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795; spinocerebellar ataxia type 29 MONDO:0007298",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:35:35.221088+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR1 were set to 27108797; 27108798; 15623688; 22986007; 28488678",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:35:02.183200+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR1 were set to ",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:30:18.363354+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:29:08.772767+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IVD as ready",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:29:08.760980+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ivd has been classified as Green List (High Evidence).",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:29:03.815340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IVD were changed from to isovaleric acidaemia MONDO:0009475",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:28:14.194842+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IVD were set to ",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:27:31.190793+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IVD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:26:34.600052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNT1 as ready",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:26:34.589170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt1 has been classified as Green List (High Evidence).",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:26:27.177778+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNT1 were changed from to Developmental and epileptic encephalopathy MIM#614959; childhood-onset epilepsy syndrome MONDO:0020072",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:24:37.082269+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNT1 were set to ",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:23:41.582340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:22:35.190156+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD7 as ready",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:22:35.179342+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd7 has been classified as Green List (High Evidence).",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:18:52.813614+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD7 were changed from Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); progressive myoclonus epilepsy MONDO:0020074 to progressive myoclonus epilepsy MONDO:0020074; Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:17:59.340001+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); progressive myoclonus epilepsy MONDO:0020074",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:16:57.636841+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCTD7 were set to ",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:16:14.068887+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:15:20.531406+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM6A as ready",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:15:20.518435+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:15:11.994329+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2 MONDO:0010465",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:14:31.644176+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM6A were set to ",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:13:51.507477+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM6A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:12:49.574174+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:12:49.559878+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name KATNIP",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:12:49.500300+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:12:32.975831+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:12:32.959596+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:12:24.678914+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0586 were set to ",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:11:56.603247+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0586 were changed from Joubert syndrome 23 MIM#616490 to Joubert syndrome 23 MIM#616490",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:11:25.355049+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23 MIM#616490",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:10:52.528677+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T18:10:11.031985+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0586.",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2024-10-22T13:28:48.325022+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1109 as ready",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2024-10-22T13:28:48.312191+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Red List (Low Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2024-10-22T13:28:43.299813+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA1109 as Red List (low evidence)",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2024-10-22T13:28:43.262610+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Red List (Low Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
}
]
}