{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=791","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=789","results":[{"created":"2022-07-26T11:32:24.792176+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMNA as ready","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-07-26T11:32:24.782873+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmna has been classified as Green List (High Evidence).","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-07-26T11:32:15.531507+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LMNA were set to ","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-07-26T11:31:27.961457+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: LDLR.","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-07-26T11:30:59.819761+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FIG4 as ready","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-07-26T11:30:59.809625+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fig4 has been classified as Green List (High Evidence).","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-07-26T11:30:56.607139+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FIG4 were changed from Yunis-Varon syndrome, 216340 (3) to Yunis-Varon syndrome, MIM#216340","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-07-26T11:30:35.815380+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FIG4 were set to ","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-07-26T11:29:30.264546+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PMM2: Added comment: Cabezas et al (2017) reported co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD in 17 children from 11 unrelated families. Patients presented with hyperinsulinaemic hypoglycaemia in infancy and enlarged kidneys with multiple kidney cysts. Some progressed to ESKD and some had liver cysts. Whole-genome linkage analysis in 5 informative families identified a single significant locus on chromosome 16p13.2. Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, they found in all patients a promoter mutation (c.-167G>T) in PMM2, either homozygous or in trans with PMM2 coding mutations. They found deglycosylation in cultured pancreatic β cells altered insulin secretion. In vitro, the PMM2 promoter mutation associated with decreased transcriptional activity in patient kidney cells and impaired binding of the transcription factor ZNF143. In silico analysis suggested an important role of ZNF143 for the formation of a chromatin loop including PMM2. They proposed that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD.\r\n\r\nNone of the patients exhibited the typical clinical or diagnostic features of CDG1A. Serum transferrin glycosylation was normal in 11 patients who had assessment.; Changed phenotypes: Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:28:57.296321+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMM2 as ready","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:28:57.287790+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Green List (High Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:28:46.099188+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:25:47.540977+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PMM2 were changed from Congenital disorder of glycosylation, type Ia (MIM#212065) to Congenital disorder of glycosylation, type Ia (MIM#212065); Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:25:23.432210+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.174","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PMM2 were set to 28108845","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:24:36.929992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.173","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: CDG: Well established gene-disease association.","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:24:26.293116+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.173","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PMM2: Added comment: Association with HIPKD:\r\nCabezas et al (2017) reported co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD in 17 children from 11 unrelated families. Patients presented with hyperinsulinaemic hypoglycaemia in infancy and enlarged kidneys with multiple kidney cysts. Some progressed to ESKD and some had liver cysts. Whole-genome linkage analysis in 5 informative families identified a single significant locus on chromosome 16p13.2. Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, they found in all patients a promoter mutation (c.-167G>T) in PMM2, either homozygous or in trans with PMM2 coding mutations. They found deglycosylation in cultured pancreatic β cells altered insulin secretion. In vitro, the PMM2 promoter mutation associated with decreased transcriptional activity in patient kidney cells and impaired binding of the transcription factor ZNF143. In silico analysis suggested an important role of ZNF143 for the formation of a chromatin loop including PMM2. They proposed that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD. None of the patients exhibited the typical clinical or diagnostic features of CDG1A. Serum transferrin glycosylation was normal in 11 patients who had assessment.; Changed publications: 28108845, 28373276, 32595772; Changed phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065), Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:23:53.324265+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PMM2 were set to PMID: 28373276, 32595772","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:22:49.279250+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PMM2 were changed from Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD) to Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:22:40.346568+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.65","user_name":"Crystle Lee","item_type":"entity","text":"gene: LOXHD1 was added\ngene: LOXHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LOXHD1 were set to 31547530\nPhenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive 77\t(MIM#613079)\nReview for gene: LOXHD1 was set to AMBER\nAdded comment: Well established gene disease association with non-syndromic hearing loss. \nSources: Literature","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-07-26T11:21:30.453993+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: PMM2.","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-26T11:20:17.200764+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: IGHM.","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-07-26T11:19:50.921613+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK2 as ready","entity_name":"DOCK2","entity_type":"gene"},{"created":"2022-07-26T11:19:50.909872+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock2 has been classified as Green List (High Evidence).","entity_name":"DOCK2","entity_type":"gene"},{"created":"2022-07-26T11:19:46.975031+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOCK2 were set to ","entity_name":"DOCK2","entity_type":"gene"},{"created":"2022-07-26T11:02:06.704504+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PRKRA.","entity_name":"PRKRA","entity_type":"gene"},{"created":"2022-07-26T07:39:39.361243+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.173","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441 to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-26T07:39:09.324607+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.172","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLCO2A1 were set to 23509104; 27134495; 33852188; 22331663; 27134495","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-26T07:38:47.336483+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.171","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLCO2A1: Added comment: PMID 29313109: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology. Some overlap with the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene. Mild digital clubbing or periostosis was found in 13 patients (28%), with five male patients fulfilling the major diagnostic criteria of PHO.; Changed publications: 23509104, 27134495, 33852188, 22331663, 27134495, 29313109; Changed phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441, Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-26T07:34:35.303329+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.156","user_name":"Peter McNaughton","item_type":"entity","text":"reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35868845; Phenotypes: retinal  dystrophy, optic nerve oedema, splenomegaly, anhidrosis, headache; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ALPK1","entity_type":"gene"},{"created":"2022-07-25T19:23:41.702579+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLCO2A1 as ready","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-25T19:23:41.689671+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slco2a1 has been classified as Green List (High Evidence).","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-25T19:23:34.643740+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLCO2A1 were changed from Enteropathy to Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related; Enteropathy","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-25T19:22:46.855918+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLCO2A1 as Green List (high evidence)","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-25T19:22:46.843843+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slco2a1 has been classified as Green List (High Evidence).","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-25T19:22:20.375202+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology.\r\n\r\nThis is distinct from the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene.; to: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology.\r\n\r\nSome overlap with the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene. Mild digital clubbing or periostosis was found in 13 patients (28%), with five male patients fulfilling the major diagnostic criteria of PHO.","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-25T19:21:32.531639+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology.\r\n\r\nThis distinct from the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene.; to: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology.\r\n\r\nThis is distinct from the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene.","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-25T19:21:26.647590+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-25T19:17:59.166647+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: KCNQ1.","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2022-07-25T19:17:27.111473+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLA as ready","entity_name":"GLA","entity_type":"gene"},{"created":"2022-07-25T19:17:27.094285+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gla has been classified as Green List (High Evidence).","entity_name":"GLA","entity_type":"gene"},{"created":"2022-07-25T19:17:23.666717+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLA were changed from Fabry disease, 301500 (3) to Fabry disease, MIM#301500","entity_name":"GLA","entity_type":"gene"},{"created":"2022-07-25T19:17:11.975882+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLA were set to ","entity_name":"GLA","entity_type":"gene"},{"created":"2022-07-25T18:54:04.218069+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FA2H as ready","entity_name":"FA2H","entity_type":"gene"},{"created":"2022-07-25T18:54:04.209090+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Green List (High Evidence).","entity_name":"FA2H","entity_type":"gene"},{"created":"2022-07-25T18:00:06.693175+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FA2H were set to ","entity_name":"FA2H","entity_type":"gene"},{"created":"2022-07-25T13:14:07.392181+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: HYAL1 was added\ngene: HYAL1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYAL1 were set to 10339581; 18344557; 21559944\nPhenotypes for gene: HYAL1 were set to Mucopolysaccharidosis type IX (MIM#601492)\nReview for gene: HYAL1 was set to RED\nAdded comment: Two families reported: in one, multiple soft tissue masses were the predominant clinical manifestation, and in the second, juvenile arthritis. Mouse model.\r\n\r\n>15 pLoF variants reported as pathogenic in ClinVar. All submitted by a single lab and evidence suggests that the variant has not been previously reported. \r\n\r\nInsufficient gene disease association. Not suitable for inclusion in a carrier screening panel \nSources: Literature","entity_name":"HYAL1","entity_type":"gene"},{"created":"2022-07-25T13:03:56.529569+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: HOGA1 was added\ngene: HOGA1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HOGA1 were set to 31123811\nPhenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III (MIM#613616)\nReview for gene: HOGA1 was set to AMBER\nAdded comment: Well-established association with primary hyperoxaluria type III (PH3). Variable phenotype\r\n\r\nThree distinct genetic forms of PH have been defined: PH1–3. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in most patients. It does not develop ESRD generally \nSources: Literature","entity_name":"HOGA1","entity_type":"gene"},{"created":"2022-07-25T12:52:57.924653+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: HGD was added\ngene: HGD was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HGD were set to 25804398\nPhenotypes for gene: HGD were set to Alkaptonuria (MIM#203500)\nReview for gene: HGD was set to RED\nAdded comment: Well established gene disease association. Symptoms occur in adulthood. \r\n\r\nOchronosis generally occurs after age 30 years; arthritis often begins in the third decade. (Gene Reviews) \nSources: Literature","entity_name":"HGD","entity_type":"gene"},{"created":"2022-07-25T12:48:18.783910+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"Deleted their comment","entity_name":"SPTA1","entity_type":"gene"},{"created":"2022-07-25T12:48:01.802348+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"edited their review of gene: SPTA1: Added comment: single case fetus consanguineous parents\r\nsevere anaemia with NIHF\r\nhomozygous variant NM_003126.4:c.83G>A; Changed phenotypes: Spherocytosis type 3 #270970, Elliptocytosis-2 #130600, Pyropoikilocytosis #266140","entity_name":"SPTA1","entity_type":"gene"},{"created":"2022-07-25T12:46:33.714082+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM37 as ready","entity_name":"TRIM37","entity_type":"gene"},{"created":"2022-07-25T12:46:33.699142+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim37 has been classified as Green List (High Evidence).","entity_name":"TRIM37","entity_type":"gene"},{"created":"2022-07-25T12:46:29.586899+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIM37 as Green List (high evidence)","entity_name":"TRIM37","entity_type":"gene"},{"created":"2022-07-25T12:46:29.578591+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim37 has been classified as Green List (High Evidence).","entity_name":"TRIM37","entity_type":"gene"},{"created":"2022-07-25T12:46:04.774893+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRIM37 was added\ngene: TRIM37 was added to Cancer Predisposition_Paediatric. Sources: Expert Review\nMode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM37 were set to 34309235; 19334051; 17100991\nPhenotypes for gene: TRIM37 were set to Mulibrey nanism, MIM# 253250\nReview for gene: TRIM37 was set to GREEN\nAdded comment: Multiple reports of WT with mulibrey nanism. \nSources: Expert Review","entity_name":"TRIM37","entity_type":"gene"},{"created":"2022-07-25T12:45:43.584415+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"reviewed gene: SPTA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34132406; Phenotypes: Spherocytosis type 3 #270970, Elliptocytosis-2 #130600, pyropoikilocytosis #266140; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SPTA1","entity_type":"gene"},{"created":"2022-07-25T12:43:28.628395+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"Deleted their review","entity_name":"SPTA1","entity_type":"gene"},{"created":"2022-07-25T12:42:52.924025+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 34132406; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOK7","entity_type":"gene"},{"created":"2022-07-25T12:42:06.066525+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"Deleted their review","entity_name":"DOK7","entity_type":"gene"},{"created":"2022-07-25T12:40:25.906886+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: HFE was added\ngene: HFE was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE were set to Hemochromatosis (MIM#235200)\nPenetrance for gene: HFE were set to Incomplete\nReview for gene: HFE was set to RED\nAdded comment: Well established gene disease association. HFE hemochromatosis is an adult-onset, treatable disorder with low clinical penetrance (Gene Reviews). \r\n\r\nNot suitable for population carrier screening. \nSources: Literature","entity_name":"HFE","entity_type":"gene"},{"created":"2022-07-25T12:38:37.434816+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM28 as ready","entity_name":"TRIM28","entity_type":"gene"},{"created":"2022-07-25T12:38:37.420995+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim28 has been classified as Green List (High Evidence).","entity_name":"TRIM28","entity_type":"gene"},{"created":"2022-07-25T12:37:53.825202+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIM28 as Green List (high evidence)","entity_name":"TRIM28","entity_type":"gene"},{"created":"2022-07-25T12:37:53.816083+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim28 has been classified as Green List (High Evidence).","entity_name":"TRIM28","entity_type":"gene"},{"created":"2022-07-25T12:37:22.472413+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRIM28 was added\ngene: TRIM28 was added to Cancer Predisposition_Paediatric. Sources: Expert Review\nMode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM28 were set to 30694527\nPhenotypes for gene: TRIM28 were set to Wilms tumour, MONDO:0006058, TRIM28-related\nReview for gene: TRIM28 was set to GREEN\nAdded comment: Eleven individuals with germline variants identified; plus one somatic. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development. \nSources: Expert Review","entity_name":"TRIM28","entity_type":"gene"},{"created":"2022-07-25T12:34:03.678148+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: HBA2 was added\ngene: HBA2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HBA2 were set to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131\nReview for gene: HBA2 was set to RED\nAdded comment: Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.\r\n\r\nNote deletions are common. \nSources: Literature","entity_name":"HBA2","entity_type":"gene"},{"created":"2022-07-25T12:19:58.593417+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: HBA1 was added\ngene: HBA1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA1 were set to Erythrocytosis 7, MIM# 617981; Heinz body anemias, alpha-, MIM# 140700; Methemoglobinemia, alpha type , MIM#617973; Thalassemias, alpha-, MIM# 604131; Hemoglobin H disease, nondeletional, MIM# 613978\nReview for gene: HBA1 was set to RED\nAdded comment: Well established gene-disease associations. Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.\r\n\r\nNote deletions are common. \nSources: Literature","entity_name":"HBA1","entity_type":"gene"},{"created":"2022-07-25T12:02:12.669573+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: GRHPR was added\ngene: GRHPR was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRHPR were set to 28569194; 10484776; 10484776; 24116921\nPhenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II (MIM#260000)\nReview for gene: GRHPR was set to AMBER\nAdded comment: Well established gene-disease association, more than 10 families reported.\r\nOnset usually in infancy or early childhood, variable severity and some patients may be asymptomatic (OMIM; Gene Reviews) \nSources: Literature","entity_name":"GRHPR","entity_type":"gene"},{"created":"2022-07-25T11:49:56.494598+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: GP9 was added\ngene: GP9 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: GP9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GP9 were set to 8049428; 33553065; 32030720; 31484196\nPhenotypes for gene: GP9 were set to Bernard-Soulier syndrome, type C\t(MIM#231200)\nReview for gene: GP9 was set to AMBER\nAdded comment: Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5.\r\n\r\nAt least 3 unrelated families reported, animal model. \nSources: Literature","entity_name":"GP9","entity_type":"gene"},{"created":"2022-07-25T11:40:55.313338+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: REST as ready","entity_name":"REST","entity_type":"gene"},{"created":"2022-07-25T11:40:55.300960+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rest has been classified as Green List (High Evidence).","entity_name":"REST","entity_type":"gene"},{"created":"2022-07-25T11:40:47.368351+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: REST as Green List (high evidence)","entity_name":"REST","entity_type":"gene"},{"created":"2022-07-25T11:40:47.360492+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rest has been classified as Green List (High Evidence).","entity_name":"REST","entity_type":"gene"},{"created":"2022-07-25T11:40:21.855411+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"gene: REST was added\ngene: REST was added to Cancer Predisposition_Paediatric. Sources: Expert Review\nMode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: REST were set to 26551668; 34308104\nPhenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to}, MIM# 616806\nReview for gene: REST was set to GREEN\nAdded comment: More than 10 families reported. \nSources: Expert Review","entity_name":"REST","entity_type":"gene"},{"created":"2022-07-25T11:34:22.784861+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: GP1BA was added\ngene: GP1BA was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GP1BA were set to 21173099; 24934643; 18081445\nPhenotypes for gene: GP1BA were set to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930\nReview for gene: GP1BA was set to AMBER\nAdded comment: Bernard-Soulier syndrome is usually transmitted as a recessive trait with giant platelets and severe bleeding tendency. \nSources: Literature","entity_name":"GP1BA","entity_type":"gene"},{"created":"2022-07-25T11:34:11.775765+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3CA as ready","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-07-25T11:34:11.763482+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3ca has been classified as Green List (High Evidence).","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-07-25T11:34:05.325266+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIK3CA as Green List (high evidence)","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-07-25T11:34:05.315857+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3ca has been classified as Green List (High Evidence).","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-07-25T11:33:39.893286+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIK3CA was added\ngene: PIK3CA was added to Cancer Predisposition_Paediatric. Sources: Expert Review\nsomatic tags were added to gene: PIK3CA.\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501\nReview for gene: PIK3CA was set to GREEN\nAdded comment: MCAP syndrome is associated with increased risk of Wilm's tumour, and other neoplasms (leukaemia, meningioma). \nSources: Expert Review","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-07-25T11:30:05.187656+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPC3 as ready","entity_name":"GPC3","entity_type":"gene"},{"created":"2022-07-25T11:30:05.177891+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpc3 has been classified as Green List (High Evidence).","entity_name":"GPC3","entity_type":"gene"},{"created":"2022-07-25T11:23:52.321446+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: GJB2 was added\ngene: GJB2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: GJB2 were set to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500\nReview for gene: GJB2 was set to AMBER\nAdded comment: Well established gene disease association. AR deafness MIM#220290 is associated with biallelic variants or digenic dominant with large deletion in GJB6 \nSources: Literature","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-07-25T11:17:52.423969+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: GJB1 was added\ngene: GJB1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1\t(MIM#302800)\nReview for gene: GJB1 was set to AMBER\nAdded comment: CMTX has both demyelinating and axonal features. Well established gene-disease association, over 100 families reported. Variable phenotype with incomplete penetrance (OMIM)\r\n\r\nPMID 31842800: Three unrelated males with GJB1 variants and recurrent episodes of reversible posterior leukoencephalopathy reported. \nSources: Literature","entity_name":"GJB1","entity_type":"gene"},{"created":"2022-07-25T11:13:47.941497+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: GALK1 was added\ngene: GALK1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALK1 were set to 32807972\nPhenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts\t(MIM#230200)\nReview for gene: GALK1 was set to AMBER\nAdded comment: Well established gene disease association. Galactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable \nSources: Literature","entity_name":"GALK1","entity_type":"gene"},{"created":"2022-07-25T11:04:39.789047+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: G6PD was added\ngene: G6PD was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism) (MIM#300908)\nReview for gene: G6PD was set to AMBER\nAdded comment: Well established gene disease association. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening\r\n\r\nNote: OMIM states this is XLD, however it is males that a repeatedly reported affected and just carrier females; females are affected when HOMOZYGOUS, meaning this is primarily an XLR condition \nSources: Literature","entity_name":"G6PD","entity_type":"gene"},{"created":"2022-07-25T10:56:52.514604+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: F11 was added\ngene: F11 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: F11 were set to 18446632; 15026311; 27723456\nPhenotypes for gene: F11 were set to Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416)\nReview for gene: F11 was set to AMBER\nAdded comment: Recessive cases are more severe than heterozygous carriers, who may be asymptomatic despite having FXI deficiency (PMID:18446632). Dominant negative missense tend to have dominant inheritance patterns (PMID:15026311), while PTCs are generally recessive, though symptomatic carriers have been reported (OMIM).\r\n\r\nPMID: 27723456 - \"Bleeding due to FXI deficiency is variable and does not correlate with the plasma FXI level or FXI coagulant activity1\" \nSources: Literature","entity_name":"F11","entity_type":"gene"},{"created":"2022-07-25T10:04:29.030153+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"gene: SPTA1 was added\ngene: SPTA1 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTA1 were set to 34132406\nPhenotypes for gene: SPTA1 were set to Spherocytosis type 3 #270970; Elliptocytosis-2 #130600; pyropoikilocytosis #266140\nReview for gene: SPTA1 was set to AMBER\nAdded comment: single case fetus consanguineous parents\r\nsevere anaemia with NIHF\r\nhomozygous variant NM_003126.4:c.83G>A \nSources: Literature","entity_name":"SPTA1","entity_type":"gene"},{"created":"2022-07-25T09:54:25.384037+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"changed review comment from: Homozygous pathogenic variant NM_173660.5:c.439delG\r\nrecurrent NIHF in four consanguineous families \r\nNIHF as part of the presentation of FADS; to: Homozygous pathogenic variant NM_173660.5:c.439delG\r\nrecurrent NIHF in four consanguineous families \r\nNIHF as part of the presentation of FADS\r\nPMID didn't save the last digit - 34132406","entity_name":"DOK7","entity_type":"gene"},{"created":"2022-07-25T09:52:59.446137+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"gene: GLDN was added\ngene: GLDN was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLDN were set to 34132406\nPhenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, MIM# 617194\nReview for gene: GLDN was set to AMBER\nAdded comment: Homozygous pathogenic variant in two of three recurrent NIHF in consanguineous couple (no DNA from the 3rd fetus available - two prior pregnancies and current pregnancy NIHF), segregated in parents\r\nNM_181789.4:c.385_392delTGCAACAG \nSources: Literature","entity_name":"GLDN","entity_type":"gene"},{"created":"2022-07-25T09:48:19.428246+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: EYS was added\ngene: EYS was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: EYS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EYS were set to 31074760\nPhenotypes for gene: EYS were set to Retinitis pigmentosa 25 (MIM#602772)\nReview for gene: EYS was set to AMBER\nAdded comment: Well established gene disease association. Highly variable age of onset of retinal disease \nSources: Literature","entity_name":"EYS","entity_type":"gene"},{"created":"2022-07-25T09:45:40.778637+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.284","user_name":"Di Milnes","item_type":"entity","text":"reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 3413240; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOK7","entity_type":"gene"},{"created":"2022-07-25T09:38:10.826629+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: CYP21A2 was added\ngene: CYP21A2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910)\nReview for gene: CYP21A2 was set to RED\nAdded comment: Well established gene-disease association.\r\n\r\nPseudogene and structural variants make NGS data difficult to interpret. Not suitable for inclusion in a carrier screening panel due to technical reasons \nSources: Literature","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-07-24T19:03:11.908624+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.215","user_name":"SHEKEEB MOHAMMAD","item_type":"entity","text":"STR: ATXN1_CAG was added\nSTR: ATXN1_CAG was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN1_CAG were set to •\tPMID: 24602359\nPhenotypes for STR: ATXN1_CAG were set to Spinocerebellar Ataxia type 1; Parkinsonism; OMIM 164400\nReview for STR: ATXN1_CAG was set to GREEN\nAdded comment: Sources: Literature","entity_name":"ATXN1_CAG","entity_type":"str"},{"created":"2022-07-23T18:03:55.221289+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.239","user_name":"Chloe Stutterd","item_type":"entity","text":"gene: KYNU was added\ngene: KYNU was added to Congenital Heart Defect. Sources: Literature,Expert list\nMode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KYNU were set to 28792876; 33942433\nPhenotypes for gene: KYNU were set to MIM# 617661 Vertebral, cardiac, renal, and limb defects syndrome 2\nReview for gene: KYNU was set to GREEN\ngene: KYNU was marked as current diagnostic\nAdded comment: Biallelic, inactivating variants in three genes encoding enzymes of the NAD biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple malformations of the heart, kidney, vertebrae, and limbs; these patients have Congenital NAD Deficiency Disorder (PMID: 33942433) \nSources: Literature, Expert list","entity_name":"KYNU","entity_type":"gene"},{"created":"2022-07-23T17:51:31.864342+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.239","user_name":"Chloe Stutterd","item_type":"entity","text":"gene: KDR was added\ngene: KDR was added to Congenital Heart Defect. Sources: Literature,Expert list\nMode of inheritance for gene: KDR was set to Unknown\nPublications for gene: KDR were set to 34113005; 34328347; 30232381\nPhenotypes for gene: KDR were set to Tetralogy of Fallot\nReview for gene: KDR was set to RED\ngene: KDR was marked as current diagnostic\nAdded comment: Rare variants associated with ToF but lacking evidence for causality and pathogenesis.\r\n\r\nPMID 34113005 (2021): Exome sequencing in a family with two siblings affected by TOF revealed biallelic missense variants in KDR. Studies in knock-in mice and in HEK 293T cells identified embryonic lethality for one variant when occurring in the homozygous state, and a significantly reduced VEGFR2 phosphorylation for both variants. Rare variant burden analysis conducted in a set of 1,569 patients of European descent with TOF identified a 46-fold enrichment of protein-truncating variants (PTVs) in TOF cases compared to controls (P = 7 × 10-11).\r\n\r\nPMID 34328347 (2021): exome sequencing data from 811 probands with ToF, four patients had novel LoF variants in KDR demonstrating enrichment in ToF compared with controls. Segregation data not available. \r\n\r\nPMID: 30232381 (2019): KDR variants identified in four patients (two stopgain and two nonsynonymous variants) with other VUS identified in one patient. Segregation data not available. \nSources: Literature, Expert list","entity_name":"KDR","entity_type":"gene"},{"created":"2022-07-23T16:29:25.803115+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.239","user_name":"Chloe Stutterd","item_type":"entity","text":"gene: HDAC8 was added\ngene: HDAC8 was added to Congenital Heart Defect. Sources: Literature,Expert list\nMode of inheritance for gene: HDAC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HDAC8 were set to 24403048\nPhenotypes for gene: HDAC8 were set to MIM# 300882 Cornelia de Lange syndrome 5\nReview for gene: HDAC8 was set to GREEN\ngene: HDAC8 was marked as current diagnostic\nAdded comment: PMID:24403048: 11/30 individuals with HDAC8-related CdLS identified with CHD (ASD, VSD, ToF, valve dysplasia, PDA)(Supp table). \nSources: Literature, Expert list","entity_name":"HDAC8","entity_type":"gene"},{"created":"2022-07-23T15:06:07.866168+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GPC3 as Green List (high evidence)","entity_name":"GPC3","entity_type":"gene"},{"created":"2022-07-23T15:06:07.858220+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpc3 has been classified as Green List (High Evidence).","entity_name":"GPC3","entity_type":"gene"},{"created":"2022-07-23T15:05:43.907567+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPC3 was added\ngene: GPC3 was added to Cancer Predisposition_Paediatric. Sources: Expert Review\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870\nReview for gene: GPC3 was set to GREEN\nAdded comment: Increased risk of Wilms tumour and embryonal tumours is a feature of Simpson-Golabi-Behmel syndrome. \nSources: Expert Review","entity_name":"GPC3","entity_type":"gene"}]}