{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=417","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=415","results":[{"created":"2024-08-01T10:30:13.897016+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.43","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MYH7 as ready","entity_name":"MYH7","entity_type":"gene"},{"created":"2024-08-01T10:30:13.881996+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.43","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myh7 has been classified as Green List (High Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2024-08-01T10:30:10.470480+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.43","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of pathogenicity for gene: MYH7 was changed from None to None","entity_name":"MYH7","entity_type":"gene"},{"created":"2024-08-01T10:29:05.479690+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.42","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MYH7 as Green List (high evidence)","entity_name":"MYH7","entity_type":"gene"},{"created":"2024-08-01T10:29:05.459063+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.42","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myh7 has been classified as Green List (High Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2024-08-01T10:28:23.901633+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.41","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: MYH7: Changed mode of pathogenicity: Other","entity_name":"MYH7","entity_type":"gene"},{"created":"2024-08-01T10:28:09.468952+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.41","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MYH7 was added\ngene: MYH7 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH7 were set to 38982518; 15322983\nPhenotypes for gene: MYH7 were set to MYH7-related skeletal myopathy MONDO:0008050\nReview for gene: MYH7 was set to GREEN\ngene: MYH7 was marked as current diagnostic\nAdded comment: Congenital myopathy reported in >4 cases/families (e.g. core myopathy). The mechanism for disease is dominant negative. \nSources: Literature","entity_name":"MYH7","entity_type":"gene"},{"created":"2024-08-01T10:21:31.948936+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.40","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MTM1 as ready","entity_name":"MTM1","entity_type":"gene"},{"created":"2024-08-01T10:21:31.935498+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.40","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtm1 has been classified as Green List (High Evidence).","entity_name":"MTM1","entity_type":"gene"},{"created":"2024-08-01T10:21:20.958624+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.40","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MTM1 as Green List (high evidence)","entity_name":"MTM1","entity_type":"gene"},{"created":"2024-08-01T10:21:20.944695+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.40","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtm1 has been classified as Green List (High Evidence).","entity_name":"MTM1","entity_type":"gene"},{"created":"2024-08-01T10:20:37.631220+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.39","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MTM1 was added\ngene: MTM1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: MTM1 were set to 30232666; 38982518; 10790201\nPhenotypes for gene: MTM1 were set to X-linked myotubular myopathy MONDO:0010683\nReview for gene: MTM1 was set to GREEN\ngene: MTM1 was marked as current diagnostic\nAdded comment: >4 cases reported with congenital myopathy (congenital fiber type disorder, centronuclear myopathy, myotubular myopathy). Hemizygous males and heterozygous females are reported. \nSources: Literature","entity_name":"MTM1","entity_type":"gene"},{"created":"2024-08-01T10:07:30.928900+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.38","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FHL1 as Green List (high evidence)","entity_name":"FHL1","entity_type":"gene"},{"created":"2024-08-01T10:07:30.911984+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.38","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fhl1 has been classified as Green List (High Evidence).","entity_name":"FHL1","entity_type":"gene"},{"created":"2024-08-01T10:07:03.959668+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.38","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FHL1 were set to PMID: 19181672; 19171836","entity_name":"FHL1","entity_type":"gene"},{"created":"2024-08-01T09:48:18.497061+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CAV3 as ready","entity_name":"CAV3","entity_type":"gene"},{"created":"2024-08-01T09:48:18.479775+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cav3 has been classified as Green List (High Evidence).","entity_name":"CAV3","entity_type":"gene"},{"created":"2024-08-01T09:45:06.207177+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CAV3 as Green List (high evidence)","entity_name":"CAV3","entity_type":"gene"},{"created":"2024-08-01T09:45:06.190255+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cav3 has been classified as Green List (High Evidence).","entity_name":"CAV3","entity_type":"gene"},{"created":"2024-08-01T09:44:01.680421+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.36","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CAV3 was added\ngene: CAV3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAV3 were set to 38982518; 30174172\nPhenotypes for gene: CAV3 were set to Caveolinopathy MONDO:0016146\nMode of pathogenicity for gene: CAV3 was set to Other\nReview for gene: CAV3 was set to GREEN\ngene: CAV3 was marked as current diagnostic\nAdded comment: At least 4 probands/families reported with congenital/paediatric onset myopathy (1 tubular aggregate myopathy and 3 rippling muscle disease). The mechanism for disease is expected to be dominant negative. \nSources: Literature","entity_name":"CAV3","entity_type":"gene"},{"created":"2024-07-31T16:56:15.810022+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: WNT1: Rating: ; Mode of pathogenicity: None; Publications: 23499310; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: None","entity_name":"WNT1","entity_type":"gene"},{"created":"2024-07-31T16:52:17.693844+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28503735; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR45B","entity_type":"gene"},{"created":"2024-07-31T16:48:45.282380+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VLDLR","entity_type":"gene"},{"created":"2024-07-31T16:44:13.432260+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: USP9X: Rating: ; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Intellectual developmental disorder, X-linked 99, MIM#300919; Mode of inheritance: None","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-07-31T16:32:14.504759+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"changed review comment from: Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation.\r\n\r\nCongenital onset; to: Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation.\r\n\r\nCongenital onset","entity_name":"TUFM","entity_type":"gene"},{"created":"2024-07-31T16:32:14.016667+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"changed review comment from: Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation.\r\n\r\nCo ngenital onset; to: Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation.\r\n\r\nCongenital onset","entity_name":"TUFM","entity_type":"gene"},{"created":"2024-07-31T16:32:05.276613+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUFM","entity_type":"gene"},{"created":"2024-07-31T16:26:07.398068+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2024-07-31T16:17:56.600758+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458; Phenotypes: 33086386, 32679198, 22152682, 33231275; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TPK1","entity_type":"gene"},{"created":"2024-07-31T14:46:04.026048+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.328","user_name":"Elena Tucker","item_type":"entity","text":"reviewed gene: SYCP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38521400, PMID: 32303603; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2024-07-30T17:31:37.451927+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"commented on gene: SURF1: Established gene-disease association.\r\n\r\nChildhood onset, variable age, multi-system disorder characterised by rapidly progressive neurodegeneration and encephalopathy","entity_name":"SURF1","entity_type":"gene"},{"created":"2024-07-30T17:31:37.146136+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23829769; Phenotypes: Charcot-Marie-Tooth disease, type 4K MIM#616684, Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SURF1","entity_type":"gene"},{"created":"2024-07-30T17:28:26.795556+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20693550; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2024-07-30T17:26:16.290895+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2024-07-30T17:23:33.498615+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGCG","entity_type":"gene"},{"created":"2024-07-30T17:20:34.413117+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2024-07-30T17:18:39.815772+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"edited their review of gene: RMRP: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMRP","entity_type":"gene"},{"created":"2024-07-30T17:18:14.251251+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: RMRP: Rating: ; Mode of pathogenicity: None; Publications: 16244706, 21396580, 22420014, 11940090, 16252239; Phenotypes: Cartilage-hair hypoplasia MIM#250250, Anauxetic dysplasia 1, MIM#607095, Metaphyseal dysplasia without hypotrichosis MIM#250460; Mode of inheritance: None","entity_name":"RMRP","entity_type":"gene"},{"created":"2024-07-30T17:11:14.972426+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631308, 20424861, 23963297, 24449201; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RIN2","entity_type":"gene"},{"created":"2024-07-30T17:07:10.062595+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520, 30730599; Phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2024-07-30T17:00:04.173635+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"edited their review of gene: PMM2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMM2","entity_type":"gene"},{"created":"2024-07-30T16:59:47.908072+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: None","entity_name":"PMM2","entity_type":"gene"},{"created":"2024-07-30T16:55:56.360789+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30668673, 31741821; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM#617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLPBP","entity_type":"gene"},{"created":"2024-07-30T16:48:07.841884+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PIGA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868, Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2024-07-30T16:41:46.751363+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31231132, 33098103; Phenotypes: Immunodeficiency 23, MIM# 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2024-07-30T16:37:36.157736+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24499211, 33342467; Phenotypes: Congenital disorder of glycosylation, type It (MIM#614921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM1","entity_type":"gene"},{"created":"2024-07-30T16:31:54.086747+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358633, 21358632, 21358631, 23023959; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ORC1","entity_type":"gene"},{"created":"2024-07-30T16:27:38.631731+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889141 12164927 35304779 36779798; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLDN1","entity_type":"gene"},{"created":"2024-07-30T16:27:29.839308+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2 (MIM#612921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OBSL1","entity_type":"gene"},{"created":"2024-07-30T16:26:45.850774+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"Deleted their review","entity_name":"OBSL1","entity_type":"gene"},{"created":"2024-07-30T16:26:26.546428+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: OBSL1: Rating: ; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2, MIM #612921; Mode of inheritance: None","entity_name":"OBSL1","entity_type":"gene"},{"created":"2024-07-30T16:22:38.166470+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31668703, 31692205; Phenotypes: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NTNG2","entity_type":"gene"},{"created":"2024-07-30T16:19:59.372063+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NKX3-2","entity_type":"gene"},{"created":"2024-07-29T22:24:14.929455+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844 33951195 25644381 34479510 37409888; Phenotypes: Raynaud-Claes syndrome MIM#300114; 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":"CLCN4","entity_type":"gene"},{"created":"2024-07-29T21:50:28.689444+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8402893 9099848 11862382 28676232 24789686 20197681 11466404 15821736 12910265; Phenotypes: MHC class II deficiency 1 MIM#209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CIITA","entity_type":"gene"},{"created":"2024-07-29T21:34:23.893652+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28886341 29130579 34974531; Phenotypes: Al Kaissi syndrome MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK10","entity_type":"gene"},{"created":"2024-07-29T17:22:44.478157+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NGLY1","entity_type":"gene"},{"created":"2024-07-29T17:17:46.919991+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492, 38498292, 33261925; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOGS","entity_type":"gene"},{"created":"2024-07-29T17:02:35.891397+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21981780 31087512 23269600 33688131 22508347 31804703 30088953 20039086 24586779 35182730; Phenotypes: Neurodegeneration with brain iron accumulation 4 MIM#614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C19orf12","entity_type":"gene"},{"created":"2024-07-29T17:02:28.366768+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10053004, 31848698, 16021469, 30900395; Phenotypes: Molybdenum cofactor deficiency B (MIM#252160); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS2","entity_type":"gene"},{"created":"2024-07-29T16:59:02.418069+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: MMADHC: Rating: ; Mode of pathogenicity: None; Publications: 33552904; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-07-29T16:49:44.098003+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: MEGF8: Rating: ; Mode of pathogenicity: None; Publications: 23063620; Phenotypes: Carpenter syndrome, MIM#614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MEGF8","entity_type":"gene"},{"created":"2024-07-29T16:47:58.506712+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2024-07-29T16:23:44.487435+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 24011989 33603160 32681719; Phenotypes: Deafness, dystonia, and cerebral hypomyelination MIM#300475, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0010334; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"BCAP31","entity_type":"gene"},{"created":"2024-07-29T16:07:05.023217+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28688748, 30060766, 22522420; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISPD","entity_type":"gene"},{"created":"2024-07-29T15:52:54.324198+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1894","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381270 12016587 10874630; Phenotypes: Bardet-Biedl syndrome 4 MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS4","entity_type":"gene"},{"created":"2024-07-29T15:39:35.624284+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.117","user_name":"Peter McNaughton","item_type":"entity","text":"gene: IKBKE was added\ngene: IKBKE was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: IKBKE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKBKE were set to PMID: 37937644\nPhenotypes for gene: IKBKE were set to Recurrent HSV encephalitis\nReview for gene: IKBKE was set to AMBER\nAdded comment: Single patient with recurrent HSV meningitis with supportive functional data. \nSources: Literature","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-07-29T15:28:16.757866+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17919176 1950816 21716120 38791571 36034573; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857, Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ABCC8","entity_type":"gene"},{"created":"2024-07-29T15:20:30.366782+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.117","user_name":"Peter McNaughton","item_type":"entity","text":"gene: RNASEL was added\ngene: RNASEL was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: RNASEL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEL were set to PMID: 36538032\nPhenotypes for gene: RNASEL were set to MIS-C\nReview for gene: RNASEL was set to AMBER\nAdded comment: Single patient presenting with similar presentation and functional findings to OAS1 and OAS2 \nSources: Literature","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-07-29T15:18:06.094857+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.117","user_name":"Peter McNaughton","item_type":"entity","text":"gene: OAS2 was added\ngene: OAS2 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: OAS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAS2 were set to PMID: 36538032\nPhenotypes for gene: OAS2 were set to MIS-C\nReview for gene: OAS2 was set to GREEN\nAdded comment: 3x unrelated patients with MIS-C after COVID infection. Patients displayed excessive inflammatory responses to intracellular dsRNA, SARS-CoV-2, SARS-CoV-2–infected cells, and their RNA, providing a plausible mechanism for MIS-C.  Similar presentation to OAS1 and RNASEL. \nSources: Literature","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-07-29T14:51:42.171487+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN1 as ready","entity_name":"FBN1","entity_type":"gene"},{"created":"2024-07-29T14:51:42.155477+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn1 has been classified as Green List (High Evidence).","entity_name":"FBN1","entity_type":"gene"},{"created":"2024-07-29T14:51:32.658152+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBN1 as Green List (high evidence)","entity_name":"FBN1","entity_type":"gene"},{"created":"2024-07-29T14:51:32.646185+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn1 has been classified as Green List (High Evidence).","entity_name":"FBN1","entity_type":"gene"},{"created":"2024-07-29T14:51:02.780154+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBN1 was added\ngene: FBN1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBN1 were set to 31238364; 27138491; 17701892\nPhenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700; neonatal\nReview for gene: FBN1 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"FBN1","entity_type":"gene"},{"created":"2024-07-29T14:48:43.769900+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBLN5 as ready","entity_name":"FBLN5","entity_type":"gene"},{"created":"2024-07-29T14:48:43.745757+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbln5 has been classified as Green List (High Evidence).","entity_name":"FBLN5","entity_type":"gene"},{"created":"2024-07-29T14:48:40.205788+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBLN5 as Green List (high evidence)","entity_name":"FBLN5","entity_type":"gene"},{"created":"2024-07-29T14:48:40.190771+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbln5 has been classified as Green List (High Evidence).","entity_name":"FBLN5","entity_type":"gene"},{"created":"2024-07-29T14:48:10.248197+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBLN5 was added\ngene: FBLN5 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list\nMode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, MIM# 219100; childhood-onset emphysema\nReview for gene: FBLN5 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"FBLN5","entity_type":"gene"},{"created":"2024-07-29T14:46:33.858790+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAT4 as ready","entity_name":"FAT4","entity_type":"gene"},{"created":"2024-07-29T14:46:33.845321+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fat4 has been classified as Green List (High Evidence).","entity_name":"FAT4","entity_type":"gene"},{"created":"2024-07-29T14:46:29.001908+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAT4 as Green List (high evidence)","entity_name":"FAT4","entity_type":"gene"},{"created":"2024-07-29T14:46:28.984493+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fat4 has been classified as Green List (High Evidence).","entity_name":"FAT4","entity_type":"gene"},{"created":"2024-07-29T14:45:54.289059+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAT4 was added\ngene: FAT4 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list\nMode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAT4 were set to 24913602; 14564208\nPhenotypes for gene: FAT4 were set to Hennekam Syndrome, MIM# 235510; childhood pulmonary lymphangiectasia\nReview for gene: FAT4 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"FAT4","entity_type":"gene"},{"created":"2024-07-29T09:17:56.451098+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lucy Spencer","item_type":"entity","text":"changed review comment from: Is the phenotype(s) severe and onset <18yo? YES. CLCNKB mutations cause Bartter syndrome type 3 also called classic Bartter syndrome with renal salt wasting, hypokalemia, metabolic alkalosis, polyuria, polydipsia, and failure to thrive. It typically manifests in early childhood but late childhood or adulthood onset cases have been reported. Classic Bartter syndrome has a heterogeneous presentation from severe to very mild (PMIDs: 25810436, 24965226)\r\n\r\nThere is also a digenic inheritance known for this gene with variants in CLCNKA causing Bartter syndrome type 4b.; to: Is the phenotype(s) severe and onset <18yo? YES. CLCNKB mutations cause Bartter syndrome type 3 also called classic Bartter syndrome with renal salt wasting, hypokalemia, metabolic alkalosis, polyuria, polydipsia, and failure to thrive. It typically manifests in early childhood but late childhood or adulthood onset cases have been reported. Classic Bartter syndrome has a heterogeneous presentation from severe to very mild (PMIDs: 25810436, 24965226)\r\n\r\nThere is also a digenic inheritance known for this gene with variants in CLCNKA causing Bartter syndrome type 4b.","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2024-07-29T09:17:43.311554+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.65","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25810436, 24965226; Phenotypes: Bartter syndrome, type 3 MIM#607364, Bartter syndrome, type 4b, digenic MIM#613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2024-07-27T12:16:23.360309+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 14662268, 14660611, 35284542, 32041989; Phenotypes: dilated cardiomyopathy MONDO:0005021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LDB3","entity_type":"gene"},{"created":"2024-07-27T11:43:22.611961+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1894","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"LDB3","entity_type":"gene"},{"created":"2024-07-27T11:42:56.131921+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1894","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LDB3 as Green List (high evidence)","entity_name":"LDB3","entity_type":"gene"},{"created":"2024-07-27T11:42:56.126068+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1894","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Monoallelic DCM association is still Amber","entity_name":"LDB3","entity_type":"gene"},{"created":"2024-07-27T11:42:56.096524+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1894","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ldb3 has been classified as Green List (High Evidence).","entity_name":"LDB3","entity_type":"gene"},{"created":"2024-07-27T11:41:58.930429+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1893","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on mode of inheritance: AD missense variants in LDB3 that affect only short isoforms are associated with skeletal myopathies, while AR LoF variants cause paediatric cardiomyopathy","entity_name":"LDB3","entity_type":"gene"},{"created":"2024-07-27T11:41:58.903925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1893","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LDB3","entity_type":"gene"},{"created":"2024-07-27T11:38:26.949554+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1892","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36253531, 32922198; Phenotypes: dilated cardiomyopathy MONDO:0005021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LDB3","entity_type":"gene"},{"created":"2024-07-26T18:32:06.341637+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELN as ready","entity_name":"ELN","entity_type":"gene"},{"created":"2024-07-26T18:32:06.325727+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eln has been classified as Green List (High Evidence).","entity_name":"ELN","entity_type":"gene"},{"created":"2024-07-26T18:32:02.367238+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ELN as Green List (high evidence)","entity_name":"ELN","entity_type":"gene"},{"created":"2024-07-26T18:32:02.355292+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eln has been classified as Green List (High Evidence).","entity_name":"ELN","entity_type":"gene"},{"created":"2024-07-26T18:31:33.488734+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ELN was added\ngene: ELN was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ELN were set to Cutis laxa, autosomal dominant, MIM# 123700\nReview for gene: ELN was set to GREEN\nAdded comment: Sources: Literature","entity_name":"ELN","entity_type":"gene"}]}