HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1184",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1182",
"results": [
{
"created": "2021-10-18T14:17:33.131091+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DENND5A as ready",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:17:33.121496+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5a has been classified as Green List (High Evidence).",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:17:30.102481+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, MIM# 617281",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:17:01.186364+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DENND5A were set to ",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:16:24.089808+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DENND5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:15:52.774375+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:13:54.919162+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS2 as ready",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:13:54.907517+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars2 has been classified as Red List (Low Evidence).",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:13:45.955608+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DARS2 was added\ngene: DARS2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DARS2 were set to 17384640; 15002045; 16788019; 30352563\nPhenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM#\t611105\nReview for gene: DARS2 was set to RED\nAdded comment: Well established gene-disease association. Affected individuals typically present with slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. Single individual reported with seizures in PMID 30352563. \nSources: Literature",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:12:22.243693+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: LIG3 was added\ngene: LIG3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG3 were set to 33855352\nPhenotypes for gene: LIG3 were set to mitochondrial neurogastrointestinal encephalomyopathy\nPenetrance for gene: LIG3 were set to Complete\nReview for gene: LIG3 was set to GREEN\ngene: LIG3 was marked as current diagnostic\nAdded comment: 7 affecteds from 3 families\r\nAll had severe dysmotility of the gut, leukoencephalopathy and/or progressive cortical atrophy and 1 family with cerebellar atrophy\r\nAll had epilepsy, stroke-like episodes, migraine and developmental delay, reminiscent of MELAS.\r\n\r\n4 missense (K537N led to splicing defects) and 2 nonsense\r\nmolecular defects demonstrated on patients' fibroblasts\r\nKO models done on zebrafish \nSources: Literature",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-10-18T13:52:01.756040+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: ODC1 was added\ngene: ODC1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ODC1 were set to PMID:30475435; 30239107\nPhenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome\t619075\nReview for gene: ODC1 was set to RED\ngene: ODC1 was marked as current diagnostic\nAdded comment: Epilepsy appears to be a rare feature of this syndrome. \nSources: Literature",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T13:28:11.335478+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NAA10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29957440, 34200686; Phenotypes: Microphthalmia, syndromic 1 - 309800, Ogden syndrome - 300855, Seizures; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2021-10-18T13:00:39.185577+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCTD13 was added\ngene: KCTD13 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: KCTD13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCTD13 were set to PMID: 33409479\nReview for gene: KCTD13 was set to RED\nAdded comment: Mouse model and in vitro evidence suggesting the deletion of KCTD13 has a similar metabolic affect as adenylosuccinate lyase deficiency, which has seizures and autistic features. \nSources: Expert list",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:53:30.099250+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: OGT was added\ngene: OGT was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OGT were set to PMID: 28302723; 28584052; 31296563; 31627256; 29769320; 29606577\nPhenotypes for gene: OGT were set to Intellectual developmental disorder, X-linked 106\tMIM#300997\nReview for gene: OGT was set to RED\ngene: OGT was marked as current diagnostic\nAdded comment: Epilepsy appears to be a rare feature of this syndrome. \nSources: Literature",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:29:15.816844+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 615506 to Telangiectasia, hereditary hemorrhagic, type 5 615506; pulmonary arteriovenous malformations",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:29:05.237185+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GDF2 were set to 23972370",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:28:47.985259+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:28:33.186637+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:28:25.422755+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GDF2 as Green List (high evidence)",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:28:25.413478+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gdf2 has been classified as Green List (High Evidence).",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:28:16.034150+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23972370, 27081547, 32573726, 32992168, 34611981, 33834622, 32669404, 26056270, 23972370, https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 615506, pulmonary arteriovenous malformations; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:27:55.667535+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: GDF2: Changed phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 615506, pulmonary arteriovenous malformations",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:26:00.493844+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 615506 to Telangiectasia, hereditary hemorrhagic, type 5 615506; pulmonary arteriovenous malformations",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:24:43.966620+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GDF2 were set to 23972370; 27081547; 25674101",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:24:28.126417+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GDF2 as Green List (high evidence)",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:24:28.116587+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gdf2 has been classified as Green List (High Evidence).",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:24:09.653407+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: GDF2: Added comment: 4 probands/families with heterozygous variants with features of HHT and supporting in vitro or patient cell assays. \r\n2 probands - PMID: 23972370 - first publication of the HHT gene-disease association describing 3 probands with 3 different missense variants & supporting in vitro functional assays. 1 of the missense variants is present in gnomAD v2.1 at a frequency not expected for the disease (p.Arg333Trp, 115 hets; p.Arg68Leu, 0 hets; p.Pro85Leu, 2 hets) \r\n0 probands - PMID: 27081547 - a suspected HHT case with missense p.Arg317Gln, which is present in 11 hets in gnomAD v2.1\r\n0 probands - PMID: 32573726 - identified 4 GDF2 variants (3 missense and 1 synonymous splice site adjacent without strong splice predictions) in a cohort of HHT cases, 3 had likely pathogenic/pathogenic ENG variants that could explain the phenotype, including a case with GDF2 p.Arg333Trp which was reported as pathogenic in the original publication from 2013\r\n0 probands - PMID: 32992168 - a case with PAVM and no other features of HHT with a heterozygous missense (p.Gly291Ser), which is present in 20 hets in gnomAD v2.1.\r\n1 family - PMID: 34611981 - a suspected HHT case and affected mother had heterozygous missense variant (p.Glu355Gln). Another suspected HHT case had another heterozygous missense variant (p.Val403Ile), but there are 23 hets in gnomAD v2.1. Also, 2 cases with multi-gene deletions including GDF2. \r\n1 family - https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356 - A novel heterozygous GDF2 missense variant was identified in one HHT family from the 100,000 Genomes Project and segregated with disease. The proband was severely affected, having presented in childhood with multiple PAVMs, frequent epistaxis, and typical HHT telangiectasia. Plasma samples form the family showed significantly lower circulating BMP9 levels in affected cars compared to controls\r\n\r\n3 homozygous cases with features of HHT, including PAVM:\r\n2 probands - PMID: 33834622 - 2 unrelated paediatric cases with homozygous nonsense variants (p.Gln26Ter, p.Glu279Ter) with facial telangiectases and either pulmonary arterial hypertension or pulmonary arteriovenous malformations (PAVM). Plasma levels of both BMP9 and BMP10 were undetectable. Heterozygous parents did not have any symptoms or clinical signs of HHT.\r\n1 proband - PMID: 32669404 - an 8 yo with epistaxis and diffuse PAVM homozygous for c.1060_1062delinsAG, p.Tyr354ArgfsTer15 (consanguineous family). 7 yo sister homozygous for the same variant had no symptoms, except some telangiectasia. Heterozygous parents had telangiectasia or epistaxis\r\n\r\n2 supporting knockout animal models:\r\nPMID: 26056270 - knockout mouse model had imperfect closure of ductus arteriosus (an arterial connection in the foetus that directs blood flow away from the pulmonary circulation)\r\nPMID: 23972370 - BMP9 knockdown experiments in zebrafish exhibited small but significant decreases in both anterior-posterior and dorsal-ventral axes, as well as subtle defects in the maturation of the caudal vein.; Changed rating: GREEN; Changed publications: 23972370, 27081547, 32573726, 32992168, 34611981, 33834622, 32669404, 26056270, 23972370, https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:19:23.371393+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCNH1 was added\ngene: KCNH1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNH1 were set to PMID: 33594261\nPhenotypes for gene: KCNH1 were set to seizures; epilepsy; intellectual disability; hypotonia; skeletal abnormalities; nail abnormalities\nAdded comment: 24/27 patients with KCNH1 variants have seizures/epilepsy. These patients also had intellectual disabilities, hypotonia, skeletal abnormalities and nail abnormalities. \nSources: Literature",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:12:43.246236+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NAGLU was added\ngene: NAGLU was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NAGLU were set to 34396902; 25818867; 8650226\nPhenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; ?Charcot-Marie-Tooth disease, axonal, type 2V - 616491; Seizures\nReview for gene: NAGLU was set to GREEN\nAdded comment: The association between bi-allelic variants and Sanfilippo B is well established. The disorder is characterized by the accumulation of heparan sulfate, resulting in progressive neurodegeneration, behavioural problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe. Seizures have been reported in affected individuals.\r\n\r\nTwo families reported with mono-allelic variants and CMT. \nSources: Expert list, Literature",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:12:40.097562+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: OSGEP was added\ngene: OSGEP was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSGEP were set to PMID: 28805828; 33333793\nPhenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM#617729\nReview for gene: OSGEP was set to GREEN\ngene: OSGEP was marked as current diagnostic\nAdded comment: Epilepsy reported in multiple individuals with Galloway-Mowat syndrome 3 \nSources: Literature",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-10-18T12:11:21.006959+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCNN3 was added\ngene: KCNN3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNN3 were set to PMID: 33594261\nPhenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome\nReview for gene: KCNN3 was set to RED\nAdded comment: PMID: 33594261. 0/5 patients with KCNN3 variants had seizures or epilepsy. 1 patient had suspected but not confirmed seizures. \nSources: Expert list",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:55:20.770848+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:49:31.053888+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: OSTC was added\ngene: OSTC was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSTC were set to PMID: 32267060\nPhenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation\nReview for gene: OSTC was set to RED\nAdded comment: A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.\r\nPatient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD. \r\nGnomAD - 10 hets, 0 hom \nSources: Literature",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:32:51.362480+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4207",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NDUFA8 was added\ngene: NDUFA8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA8 were set to 32385911; 33153867\nPhenotypes for gene: NDUFA8 were set to Mitochondrial complex I deficiency, nuclear type 37- 619272; Epilepsy; Microcephaly; Developmental Delay\nReview for gene: NDUFA8 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported with phenotypic features including microcephaly (1/3), seizures (2/3), developmental delay (3/3) and MRI-B changes (3/3). \nSources: Literature",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:29:47.392495+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NDUFA8 was added\ngene: NDUFA8 was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA8 were set to 32385911; 33153867\nPhenotypes for gene: NDUFA8 were set to Mitochondrial complex I deficiency, nuclear type 37 - 619272; Epilepsy; Microcephaly; Developmental Delay\nReview for gene: NDUFA8 was set to AMBER\nAdded comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data. 1 sibling had seizures.\r\n\r\nSingle individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I. Seizures reported. \nSources: Expert list, Literature",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:23:26.302355+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCNC2 was added\ngene: KCNC2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: KCNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNC2 were set to PMID:32392612; 31972370\nPhenotypes for gene: KCNC2 were set to epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome\nReview for gene: KCNC2 was set to AMBER\nAdded comment: PMID: 31972370. De novo missense variant (p.Val471Leu) identified in a child with early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks. \r\n\r\nPMID: 32392612. De novo missense variant (p.Asp167Tyr) identified in a neurofibromatosis type 1 related West syndrome patient. Functional analysis showed a significant reduction of the mean potassium current and a shift in the voltage dependence of steady-state activation. Maternally inherited NF1 variant (p.T1951Nfs*5) also identified, the mother was \"clinically unremarkable\". \nSources: Expert list",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T11:22:46.289863+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: OTUD5 was added\ngene: OTUD5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OTUD5 were set to PMID:33748114\nPhenotypes for gene: OTUD5 were set to X-Linked Intellectual Disability and Congenital Malformation\nReview for gene: OTUD5 was set to AMBER\nAdded comment: A hemizygous OTUD5 missense variant, c.878A>T, p.Asn293Ile [NM_017602.4], was identified in a family in two brothers with epilepsy and brain magnetic resonance imaging showed a thin corpus callosum and mild ventriculomegaly. \nSources: Literature",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:50:03.391666+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NOTCH3 was added\ngene: NOTCH3 was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH3 were set to 33020014; 30776699; 21414809; 30056822; 17675836\nPhenotypes for gene: NOTCH3 were set to ?Myofibromatosis, infantile 2 - 615293; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310; Lateral meningocele syndrome - 130720\nReview for gene: NOTCH3 was set to RED\nAdded comment: CADASIL typically presents with adult-onset migraine, TIA/stroke, cognitive disorders. Seizures noted in 5-10% of patients with CADASIL, usually preceded by stroke. Less than 5 cases described of adult-onset epilepsy as initial presenting symptom of CADASIL. All had characteristic MRI-B changes and review of cases shows that a number of them had preceding migraine or other symptoms.\r\n\r\nNot suitable for inclusion in genetic epilepsy panel as seizures are adult-onset, rarely observed, and usually develop as a secondary phenomenon. \nSources: Expert list, Literature",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:38:16.027157+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCNAB3 was added\ngene: KCNAB3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: KCNAB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNAB3 were set to PMID: 32990398\nPhenotypes for gene: KCNAB3 were set to febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus\nReview for gene: KCNAB3 was set to RED\nAdded comment: Missense variant identified in a single Han Chinese family with febrile seizures plus. Three affected carriers and one unaffected carrier. Patch clamp functional studies indicates that the variant accelerates the inactivation of the potassium channels. \nSources: Expert list",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:15:38.798847+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCNA1 was added\ngene: KCNA1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNA1 were set to PMID: 32316562\nPhenotypes for gene: KCNA1 were set to Epilepsy; seizures; epileptic encephalopathies; episodic ataxia type 1 and epilepsy\nReview for gene: KCNA1 was set to GREEN\nAdded comment: KCNA1 variants reported in patients with episodic ataxia type 1 with epilepsy and seizures. KCNA1 variants also reported in patients with epileptic encephalopathies alone. Epilepsy or seizure-related variants tend to cluster in the S1,S2,S5,S6 transmembrane domains and in the pore domain. \nSources: Expert list",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2021-10-18T09:22:20.429869+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1317",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DAB1 was added\ngene: DAB1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: DAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAB1 were set to PMID: 33928188\nPhenotypes for gene: DAB1 were set to epilepsy; developmental delay; cerebellar ataxia; structural brain abnormalities; oral motor difficulty\nReview for gene: DAB1 was set to RED\nAdded comment: WES trio analysis identified compound heterozygous DAB1 canonical splice variants in a child with epilepsy (onset 6 years), developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities. RT-PCR confirms that the first variant (c.307-2A>T) causes a in-frame deletion of 3 amino acids. The second variant (c.67+1G>T) is reported to causes an in-frame deletion of exon 4 (first coding exon) and loss of the ATG initiation site.\r\n\r\nNew LoF mechanism suggested. Repeat expansion in this gene is known to be associated with disease. \nSources: Expert list",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:16:03.705909+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-17T18:15:10.803679+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGCE were changed from Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia to Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia; Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:14:38.513793+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCE as ready",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:14:38.504074+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgce has been classified as Green List (High Evidence).",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:14:33.605186+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGCE were set to 25209853; 23237735; 23365103; 30794780; 11528394; 12325078; 17200151",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:14:13.085117+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGCE were set to PMID: 25209853; 23237735; 23365103; http://igc.otago.ac.nz/home.html; 30794780",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:07:33.744273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZAR1 as ready",
"entity_name": "ZAR1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:07:33.731681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zar1 has been classified as Red List (Low Evidence).",
"entity_name": "ZAR1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:07:22.151536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZAR1 was added\ngene: ZAR1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ZAR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZAR1 were set to 29574422; 31598710; 12539046\nPhenotypes for gene: ZAR1 were set to Multi locus imprinting disturbance in offspring\nReview for gene: ZAR1 was set to RED\nAdded comment: Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) with some features of Beckwith Wiedemann Syndrome. Shown to be a maternal effect gene that functions at the oocyte to embryo transition. \nSources: Expert Review",
"entity_name": "ZAR1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:05:47.566551+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZAR1 as ready",
"entity_name": "ZAR1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:05:47.553055+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zar1 has been classified as Red List (Low Evidence).",
"entity_name": "ZAR1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:05:37.829487+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZAR1 as Red List (low evidence)",
"entity_name": "ZAR1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:05:37.819884+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zar1 has been classified as Red List (Low Evidence).",
"entity_name": "ZAR1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:05:29.014261+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZAR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ZAR1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:05:06.435073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UHRF1 as ready",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:05:06.423944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uhrf1 has been classified as Red List (Low Evidence).",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:04:55.883938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UHRF1 was added\ngene: UHRF1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UHRF1 were set to 29574422; 28976982\nPhenotypes for gene: UHRF1 were set to Multi locus imprinting disturbance in offspring\nReview for gene: UHRF1 was set to RED\nAdded comment: Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and Silver Russell Syndrome phenotype. Maenohara et al demonstrate functions of UHRF1 during the global epigenetic reprogramming of oocytes and early embryos. \nSources: Expert Review",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:04:21.010076+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UHRF1 as Red List (low evidence)",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:04:20.997433+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uhrf1 has been classified as Red List (Low Evidence).",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T18:04:11.279609+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UHRF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:25:27.584978+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UHRF1 as ready",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:25:27.574708+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uhrf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:25:23.045844+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UHRF1 as Amber List (moderate evidence)",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:25:23.035915+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uhrf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UHRF1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:24:27.460318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGEL2 as ready",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:24:27.445245+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:24:22.596614+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, MIM# 615547",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:23:49.696930+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAGEL2 were set to ",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:23:17.801348+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAGEL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:22:46.628911+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076603, 31397880, 29599419, 30302899; Phenotypes: Schaaf-Yang syndrome, MIM# 615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:22:01.793699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGEL2 as ready",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:22:01.782858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:21:54.617468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, MIM# 615547",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:21:41.140111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAGEL2 were set to ",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:21:20.579493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAGEL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:20:59.087829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076603, 31397880, 29599419, 30302899; Phenotypes: Schaaf-Yang syndrome, MIM# 615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:20:00.400662+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGEL2 as ready",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:20:00.385933+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:19:58.103873+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; Chitayat-Hall Syndrome to Schaaf-Yang syndrome, MIM# 615547; Chitayat-Hall Syndrome",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:19:43.571743+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAGEL2 as Green List (high evidence)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:19:43.562291+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:19:32.231919+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schaaf-Yang syndrome, MIM# 615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:17:09.154291+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:17:09.139369+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:17:05.400165+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to PMID 30635621; 32393365; 30778172",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:16:54.531044+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNQ1 as Amber List (moderate evidence)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:16:54.519065+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:15:23.708742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L3MBTL1 as ready",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:15:23.696399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l3mbtl1 has been classified as Red List (Low Evidence).",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:15:13.388850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L3MBTL1 was added\ngene: L3MBTL1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: L3MBTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: L3MBTL1 were set to 23543057; 15123827; 30794780\nPhenotypes for gene: L3MBTL1 were set to Affected tissue: myeloid lineages; Phenotype resulting from under expression: lymphoid malignancy\nReview for gene: L3MBTL1 was set to RED\nAdded comment: Germline variation in this imprinted gene is not currently associated with disease. \r\n\r\nSomatic deletions of 20q are associated with chronic myeloid malignancies. Aziz et al showed that a single heterozygous 20q deletion consistently resulted in the complete loss of expression of the imprinted genes L3MBTL1 and SGK2, indicative of a pathogenetic role for loss of the active paternally inherited locus. Concomitant loss of both L3MBTL1 and SGK2 dysregulated erythropoiesis and megakaryopoiesis. \nSources: Expert Review",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:13:30.971794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1OT1 as ready",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:13:30.958217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1ot1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:13:21.129872+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L3MBTL1 as ready",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:13:21.120086+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l3mbtl1 has been classified as Red List (Low Evidence).",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:13:15.273435+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: L3MBTL1 were set to http://igc.otago.ac.nz/home.html; 23543057; PMID: 15123827; 30794780",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:13:00.373058+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: L3MBTL1 as Red List (low evidence)",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:13:00.361471+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l3mbtl1 has been classified as Red List (Low Evidence).",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:12:31.955878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ1OT1 was added\ngene: KCNQ1OT1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KCNQ1OT1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: KCNQ1OT1 were set to 22205991; 15372379; 23511928; 30794780; 29377879; 10220444; 32447323; 33177595; 29047350\nPhenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome OMIM:130650; Russell-Silver Syndrome\nReview for gene: KCNQ1OT1 was set to AMBER\nAdded comment: Limited evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype. \r\n\r\nKCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621). Expression is increased in BWS due to IC2 epimutations or paternal UPD.\r\n\r\nSingle nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350). \r\n\r\nEggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation. \r\n\r\nMicrodeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). \nSources: Expert Review",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-10-17T17:11:27.085175+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ1OT1 were set to 22205991; 15372379; 23511928; 30794780; 29377879; 10220444; 32447323; 33177595; 29047350",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
}
]
}