{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1358","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1356","results":[{"created":"2021-04-09T19:56:54.770617+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNS were changed from  to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658","entity_name":"GNS","entity_type":"gene"},{"created":"2021-04-09T19:56:31.604324+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNS were set to ","entity_name":"GNS","entity_type":"gene"},{"created":"2021-04-09T19:56:12.931775+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNS","entity_type":"gene"},{"created":"2021-04-09T19:55:40.742097+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNS","entity_type":"gene"},{"created":"2021-04-09T19:52:32.507719+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3612","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNPTG as ready","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:52:32.496532+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3612","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnptg has been classified as Green List (High Evidence).","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:52:07.599789+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3612","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNPTG were changed from  to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:51:34.552452+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3611","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNPTG were set to ","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:51:06.437419+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3610","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNPTG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:50:32.765516+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3609","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764, 19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605, MONDO:0009652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:49:34.751704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7097","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNPTG as ready","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:49:34.741942+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7097","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnptg has been classified as Green List (High Evidence).","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:49:27.646731+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7097","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNPTG were changed from  to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:49:08.852208+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7096","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNPTG were set to ","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:48:48.890231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7095","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNPTG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T19:48:10.870768+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7094","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764, 19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605, MONDO:0009652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T18:59:11.588274+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNPTG as ready","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T18:59:11.578108+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnptg has been classified as Green List (High Evidence).","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T18:59:07.642743+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNPTG were changed from  to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T18:58:43.264170+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNPTG were set to ","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T18:58:06.400442+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNPTG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T18:57:29.276587+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764, 19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605, MONDO:0009652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-04-09T17:50:59.097464+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7094","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD7 as ready","entity_name":"CHD7","entity_type":"gene"},{"created":"2021-04-09T17:50:59.083474+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7094","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Green List (High Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2021-04-09T17:50:50.898357+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7094","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD7 were changed from  to Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370; CHARGE syndrome MIM#214800","entity_name":"CHD7","entity_type":"gene"},{"created":"2021-04-09T17:50:27.607783+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7093","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHD7 were set to ","entity_name":"CHD7","entity_type":"gene"},{"created":"2021-04-09T17:50:10.491667+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7092","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD7","entity_type":"gene"},{"created":"2021-04-09T17:47:22.353775+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CHD7 from the panel","entity_name":null,"entity_type":null},{"created":"2021-04-09T17:46:47.554549+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHCR7 as ready","entity_name":"DHCR7","entity_type":"gene"},{"created":"2021-04-09T17:46:47.545253+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Green List (High Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2021-04-09T17:46:43.384689+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHCR7 as Green List (high evidence)","entity_name":"DHCR7","entity_type":"gene"},{"created":"2021-04-09T17:46:43.371628+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Green List (High Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2021-04-09T17:46:15.895588+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHCR7 was added\ngene: DHCR7 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert list\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)\nReview for gene: DHCR7 was set to GREEN\nAdded comment: Reports of HPE phenotype. \nSources: Expert list","entity_name":"DHCR7","entity_type":"gene"},{"created":"2021-04-09T16:32:13.012675+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.54","user_name":"Sarah Righetti","item_type":"entity","text":"reviewed gene: OPN1LW: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blue cone monochromacy, MIM#303700, Colorblindness, protan, MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2021-04-09T16:30:13.385245+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.54","user_name":"Sarah Righetti","item_type":"entity","text":"reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stargardt disease 1 MIM#248200, Retinal dystrophy, early-onset severe MIM#248200, Cone-rod dystrophy 3 MIM#604116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA4","entity_type":"gene"},{"created":"2021-04-09T16:24:34.391122+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.54","user_name":"Sarah Righetti","item_type":"entity","text":"edited their review of gene: ABCC6: Added comment: Decision to exclude gene from MM list on 01/04/21.\r\n\r\nThe gene-phenotype relationship is not easy to predict, and GACI Type 2 is extremely rare - ~1 in 4 million births. The majority of couples we detect with pathogenic variants in ABBC6 will be at increased risk for PXE which does not meet severity criteria for inclusion. \r\n\r\nThere are also technical issues caused by 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; Changed rating: RED; Changed phenotypes: Pseudoxanthoma elasticum MIM#264800, Arterial calcification, generalized, of infancy, 2 MIM#614473","entity_name":"ABCC6","entity_type":"gene"},{"created":"2021-04-09T16:13:17.643060+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=5) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells. \nSources: Literature; to: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=3) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells. \r\nSources: Literature","entity_name":"GJA4","entity_type":"gene"},{"created":"2021-04-09T16:12:03.703888+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GJA4 as Green List (high evidence)","entity_name":"GJA4","entity_type":"gene"},{"created":"2021-04-09T16:12:03.694797+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gja4 has been classified as Green List (High Evidence).","entity_name":"GJA4","entity_type":"gene"},{"created":"2021-04-09T15:51:30.402978+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GJA4 was added\ngene: GJA4 was added to Vascular Malformations_Somatic. Sources: Literature\nsomatic tags were added to gene: GJA4.\nMode of inheritance for gene: GJA4 was set to Other\nPublications for gene: GJA4 were set to https://doi.org/10.1016/j.xhgg.2021.100028\nPhenotypes for gene: GJA4 were set to Cavernous hemangioma\nMode of pathogenicity for gene: GJA4 was set to Other\nReview for gene: GJA4 was set to GREEN\nAdded comment: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=5) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells. \nSources: Literature","entity_name":"GJA4","entity_type":"gene"},{"created":"2021-04-09T15:49:05.247446+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7091","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26411921; Phenotypes: Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370, CHARGE syndrome MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"CHD7","entity_type":"gene"},{"created":"2021-04-09T15:36:27.491267+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.596","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: NDUFA12 were set to 21617257","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-09T15:35:54.031897+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.595","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NDUFA12 as Green List (high evidence)","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-09T15:35:54.022354+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.595","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndufa12 has been classified as Green List (High Evidence).","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-09T15:35:20.727909+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.594","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 MIM#618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-09T15:33:57.543282+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ALDH1A2 as ready","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:33:57.533994+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aldh1a2 has been classified as Green List (High Evidence).","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:33:43.790827+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ALDH1A2 as Green List (high evidence)","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:33:43.781350+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aldh1a2 has been classified as Green List (High Evidence).","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:32:08.937807+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALDH1A2 was added\ngene: ALDH1A2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH1A2 were set to 33565183; 10192400\nPhenotypes for gene: ALDH1A2 were set to Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features\nReview for gene: ALDH1A2 was set to GREEN\nAdded comment: Two families, an Australian family with segregation of biallelic variants and an unrelated Italian proband with biallelic variants with similar phenotypes. Functional assays suggest the variants in the 2 families are hypomorphic. Knockout mouse model is embryonic lethal due utero defects in early heart morphogenesis. \nSources: Literature","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:31:28.046952+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7091","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ALDH1A2 were changed from  to congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:23:42.642619+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7090","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: NDUFA12 were set to 21617257","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-09T15:21:03.122003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7089","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NDUFA12 as Green List (high evidence)","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-09T15:21:03.111831+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7089","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndufa12 has been classified as Green List (High Evidence).","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-09T15:20:38.361697+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7088","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 MIM#618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-09T15:15:32.507597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7088","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ALDH1A2 as ready","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:15:32.496435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7088","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aldh1a2 has been classified as Green List (High Evidence).","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:13:48.694104+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7088","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ALDH1A2 were set to ","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:11:33.237492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7087","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ALDH1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T15:11:04.243830+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7086","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33565183, 10192400; Phenotypes: congenital heart defects, diaphragmatic eventration, pulmonary hypoplasia, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2021-04-09T14:40:33.102449+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNPTAB as ready","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2021-04-09T14:40:33.080722+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnptab has been classified as Green List (High Evidence).","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2021-04-09T14:40:30.472257+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNPTAB were changed from  to Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2021-04-09T14:28:12.070852+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNPTAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2021-04-09T14:27:46.487049+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 16465621; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2021-04-09T14:18:51.088304+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN2 as ready","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:18:51.077275+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn2 has been classified as Green List (High Evidence).","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:18:47.311722+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly to Contractural arachnodactyly, congenital MIM#121050","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:18:36.458434+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBN2 were set to ","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:16:31.831147+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:16:18.180011+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:15:26.989031+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBN2 were set to ","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:15:23.729895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7086","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MMP20 as ready","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-04-09T14:15:23.720449+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7086","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmp20 has been classified as Green List (High Evidence).","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-04-09T14:14:56.950260+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FBN2: Added comment: The association between mono-allelic variants in FBN2 and CCA is well established. Recent report of bi-allelic variants, Kloth (2021): biallelic FBN2 variants (PTC/missense) in a teenager with severe CCA, including cardiac defects, mild scoliosis and muscular involvement. Carrier parents both \"healthy/unaffected\". Phenotype matches mouse K/O. Authors performed a lit review and identified an additional 2 homozygous patients (both missense variants) with - fetal akinesia, brain ischemia and neonatal death - severe muscle weakness with bilateral clubfeet, a pronounced gait disturbance, recurrent patellar dislocations, flexion contractures, camptodactyly, widespread striae and an unusual myofibrillar disorganization, variation in fiber size and atrophic fibers in muscle biopsy.; Changed publications: 33571691","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:14:30.969328+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FBN2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:14:21.288159+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:13:39.584781+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN2 as ready","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:13:39.571825+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn2 has been classified as Green List (High Evidence).","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:13:34.450509+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBN2 were set to ","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:12:42.255429+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:12:10.729689+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:10:43.854395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7086","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBN2 were set to 19473076; 11068201; 27007659; 24899048","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:09:21.764941+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7085","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:08:47.803627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7084","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FBN2: Added comment: The association between mono-allelic variants in FBN2 and CCA is well established. Recent report of bi-allelic variants, Kloth (2021): biallelic FBN2 variants (PTC/missense) in a teenager with severe CCA, including cardiac defects, mild scoliosis and muscular involvement. Carrier parents both \"healthy/unaffected\". Phenotype matches mouse K/O. Authors performed a lit review and identified an additional 2 homozygous patients (both missense variants) with - fetal akinesia, brain ischemia and neonatal death - severe muscle weakness with bilateral clubfeet, a pronounced gait disturbance, recurrent patellar dislocations, flexion contractures, camptodactyly, widespread striae and an unusual myofibrillar disorganization, variation in fiber size and atrophic fibers in muscle biopsy.\r\n\r\nEvidence for association with Macular degeneration, early-onset MIM#616118 is limited. One family reported, plus some rare variants reported in cohort studies. The familial variant p.Glu1144Lys is present in 11 hets in gnomad and has benign in silicos. The second variant reported in the paper, p.Met1247Thr is present in >20 hets.; Changed rating: GREEN; Changed publications: 33571691; Changed phenotypes: Contractural arachnodactyly, congenital MIM#121050, Macular degeneration, early-onset MIM#616118; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:07:38.726430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7084","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: MMP20 were changed from  to Amelogenesis imperfecta, type IIA2 MIM#612529","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-04-09T14:04:25.833407+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7083","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MMP20 were set to ","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-04-09T14:03:26.399495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7082","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: MMP20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-04-09T14:03:07.524193+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7081","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MMP20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15744043, 33600052; Phenotypes: Amelogenesis imperfecta, type IIA2 MIM#612529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-04-09T14:01:21.616229+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBN2 were set to ","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:00:52.314167+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2021-04-09T14:00:02.572662+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.594","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NDUFB7 as ready","entity_name":"NDUFB7","entity_type":"gene"},{"created":"2021-04-09T14:00:02.561413+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.594","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndufb7 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFB7","entity_type":"gene"},{"created":"2021-04-09T13:59:56.055312+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.594","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NDUFB7 as Amber List (moderate evidence)","entity_name":"NDUFB7","entity_type":"gene"},{"created":"2021-04-09T13:59:56.045831+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.594","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndufb7 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFB7","entity_type":"gene"},{"created":"2021-04-09T13:57:51.106240+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.593","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NDUFB7 was added\ngene: NDUFB7 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFB7 were set to 33502047; 27626371\nPhenotypes for gene: NDUFB7 were set to Congenital lactic acidosis; hypertrophic cardiomyopathy\nReview for gene: NDUFB7 was set to AMBER\nAdded comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly. \nSources: Literature","entity_name":"NDUFB7","entity_type":"gene"},{"created":"2021-04-09T13:55:12.184976+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7081","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NDUFB7 as ready","entity_name":"NDUFB7","entity_type":"gene"},{"created":"2021-04-09T13:55:12.172094+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7081","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndufb7 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFB7","entity_type":"gene"},{"created":"2021-04-09T13:54:00.194971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7081","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NDUFB7 as Amber List (moderate evidence)","entity_name":"NDUFB7","entity_type":"gene"},{"created":"2021-04-09T13:54:00.183807+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7081","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndufb7 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFB7","entity_type":"gene"}]}