{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1016","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1014","results":[{"created":"2022-01-31T14:25:51.104563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: >10 unrelated probands reported\r\n\r\nPDHX c.1336C>T (p.Arg446Ter) is a Roma founder variant; c.1182+2T>C (p.Ile386SerfsTer13) is a Moroccan founder variant.; to: established gene-disease association\r\n\r\nPDHX c.1336C>T (p.Arg446Ter) is a Roma founder variant; c.1182+2T>C (p.Ile386SerfsTer13) is a Moroccan founder variant.","entity_name":"PDHX","entity_type":"gene"},{"created":"2022-01-31T14:08:58.805656+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PDHX: Rating: ; Mode of pathogenicity: None; Publications: 20002125, 34873726, 33092611, 30981218, 25087164, 22766002; Phenotypes: Lacticacidemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PDHX","entity_type":"gene"},{"created":"2022-01-31T14:02:17.312809+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2951","user_name":"Krithika Murali","item_type":"entity","text":"gene: TRRAP was added\ngene: TRRAP was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRRAP were set to 30827496\nPhenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism- #618454; multiple congenital anomalies\nReview for gene: TRRAP was set to GREEN\nAdded comment: 13 unrelated individuals reported with a complex syndromic neurodevelopmental disorder associated with malformations that can be detected antenatally.  This includes, brain, heart, kidney, urogenital anomalies, abdominal wall hernias, cleft lip/palate \nSources: Literature","entity_name":"TRRAP","entity_type":"gene"},{"created":"2022-01-31T13:47:22.317451+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2951","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: None; Publications: 1316704, 26279483, 18177777, 17825683, 1127504, 7472841; Phenotypes: Haemolytic anaemia, G6PD deficient (300908); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"G6PD","entity_type":"gene"},{"created":"2022-01-31T13:37:30.049374+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2951","user_name":"Krithika Murali","item_type":"entity","text":"Deleted their review","entity_name":"G6PD","entity_type":"gene"},{"created":"2022-01-31T13:26:21.199688+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2951","user_name":"Krithika Murali","item_type":"entity","text":"gene: G6PD was added\ngene: G6PD was added to Fetal anomalies. 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)\nPublications for gene: G6PD were set to 1316704; 26279483; 18177777; 17825683; 1127504; 7472841\nPhenotypes for gene: G6PD were set to Haemolytic anaemia, G6PD deficient (300908)\nReview for gene: G6PD was set to AMBER\nAdded comment: Well-known association with G6PD deficiency.  Borderline red-amber gene for fetal anomalies. However, as features of anaemia can sometimes be detected in fetus antenatally and therapeutic/maternal trigger avoidance options available, I have favoured amber rating.\r\n\r\nPMID: 26279483 Keller et al 2015 - report a  mother who is a carrier for a G6PD variant  (Guadalajara variant) with a family history of a brother and paternal uncle who died as neonates from severe hydrops.  She was counselled to avoid substances that could precipitate oxidative stress from 22 weeks gestation onwards.  During her first pregnancy, a male fetus was found to have mild cardiomegaly at 31 weeks with elevated MCAPSV - suggestive of anaemia.  Intrauterine transfusion instituted. Presence of maternally inherited G6PD variant confirmed in the fetus.\r\n\r\nThere are other case reports of hydrops fetalis presumed secondary to G6PD deficiency but evidence is limited..  \r\n\r\n4999390; 1127504 - older studies, no genomic confirmation available. \r\n\r\n4999390 Perkins et al 1971 - Mother presumed to be a carrier for G6PD deficiency and all 3 babies presumed to have the same\r\n- 1st child neonatal jaundice with abnormal G6PD test result and death at 59 days of life from undetermined cause\r\n- 2nd pregnancy - mother given sulfizoxazole for UTI during pregnancy, delivered stillborn infant at 36 weeks with hydrops fetalis and severe anaemia \r\n- 3rd child - well, neonatal jaundice and abnormal G6PD test. \r\n\r\nMother O neg blood group, all three babies +ve blood group, DAT -ve and RhoGam given each pregnancy. \r\n\r\n1127504 - Mentzer and Collier et al 1975\r\nMale infant died at 2 hours of life with evidence of haemolysis and autopsy findings of hydrops. G6PD screening test in baby abnormal. Mother had low-normal G6PD activity, abnormal ascorbate cyanide test, abnormal MTT cytochemical however no abnormal migrating band of G6PD activity was present on electrophoresis. URTI episode during pregnancy, ascorbic acid consumption and fava bean consumption noted. G6PD deficiency presumed in mother and infant but not genomically confirmed. \r\n\r\n23719252; 24999569 - Two case reports identified. However, a second diagnosis was present in both and the G6PD deficiency may have contributed to severity rather than being the primary factor. \nSources: Literature","entity_name":"G6PD","entity_type":"gene"},{"created":"2022-01-31T12:43:31.772416+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2951","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NT5C3A: Rating: RED; Mode of pathogenicity: None; Publications: 11369620, 12714505, 30951028, 25153905; Phenotypes: Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NT5C3A","entity_type":"gene"},{"created":"2022-01-31T12:35:53.285619+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2951","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFV1: Rating: ; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFV1","entity_type":"gene"},{"created":"2022-01-31T12:22:06.731371+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2951","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MYBPC1 as ready","entity_name":"MYBPC1","entity_type":"gene"},{"created":"2022-01-31T12:22:06.721870+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2951","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mybpc1 has been classified as Green List (High Evidence).","entity_name":"MYBPC1","entity_type":"gene"},{"created":"2022-01-31T12:21:56.104852+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2951","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915","entity_name":"MYBPC1","entity_type":"gene"},{"created":"2022-01-31T12:21:38.095370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFV1","entity_type":"gene"},{"created":"2022-01-31T12:21:04.668782+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2950","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 1B, MIM# 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYBPC1","entity_type":"gene"},{"created":"2022-01-31T12:17:50.430810+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2950","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFS8: Rating: RED; Mode of pathogenicity: None; Publications: 23430795, 9837812, 15159508, 22499348, 20818383, 20819849; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFS8","entity_type":"gene"},{"created":"2022-01-31T12:14:06.180831+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2950","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MUSK as ready","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-01-31T12:14:06.169998+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2950","user_name":"Alison Yeung","item_type":"entity","text":"Gene: musk has been classified as Green List (High Evidence).","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-01-31T12:13:58.724550+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2950","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-01-31T12:12:52.875993+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2949","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: None","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-01-31T12:09:55.010956+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2949","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MTOR as ready","entity_name":"MTOR","entity_type":"gene"},{"created":"2022-01-31T12:09:54.990997+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2949","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mtor has been classified as Green List (High Evidence).","entity_name":"MTOR","entity_type":"gene"},{"created":"2022-01-31T12:09:39.742745+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2949","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MTOR were changed from Smith-Kingsmore syndrome to Smith-Kingsmore syndrome, MIM# 616638","entity_name":"MTOR","entity_type":"gene"},{"created":"2022-01-31T12:08:45.309947+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Kingsmore syndrome, MIM#616638; Mode of inheritance: None","entity_name":"MTOR","entity_type":"gene"},{"created":"2022-01-31T12:06:20.634681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 23430795, 9837812, 15159508, 22499348, 20818383, 20819849; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFS8","entity_type":"gene"},{"created":"2022-01-31T11:50:35.924890+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2022-01-31T11:50:14.356679+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2022-01-31T11:29:27.420373+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Ain Roesley","item_type":"entity","text":"Deleted their review","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2022-01-31T11:29:26.267163+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34797029; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFAF5","entity_type":"gene"},{"created":"2022-01-31T11:27:39.150449+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"Deleted their review","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2022-01-31T11:27:11.793113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"Deleted their comment","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2022-01-31T11:24:37.383893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34797029; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2022-01-31T11:23:21.542789+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: 34797029; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2022-01-31T11:09:27.206366+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFA1: Rating: RED; Mode of pathogenicity: None; Publications: 29506883, 19185523, 17262856, 21596602; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"NDUFA1","entity_type":"gene"},{"created":"2022-01-31T11:06:26.049939+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29506883, 19185523, 17262856, 21596602; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"NDUFA1","entity_type":"gene"},{"created":"2022-01-31T10:48:56.223769+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: MYO5A: Rating: RED; Mode of pathogenicity: None; Publications: 32275080, 22711375, 25283056; Phenotypes: Griscelli syndrome, type 1 MIM#214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"MYO5A","entity_type":"gene"},{"created":"2022-01-31T10:48:53.215520+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275080, 22711375, 25283056; Phenotypes: Griscelli syndrome, type 1 MIM#214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"MYO5A","entity_type":"gene"},{"created":"2022-01-31T10:24:16.088431+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: None; Publications: 19656777, 19361779, 20617341, 32165823, 30380740, 30565850; Phenotypes: Glaucoma 3, primary congenital, D 613086, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"LTBP2","entity_type":"gene"},{"created":"2022-01-31T10:14:29.236408+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MTO1 as ready","entity_name":"MTO1","entity_type":"gene"},{"created":"2022-01-31T10:14:29.226019+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mto1 has been classified as Green List (High Evidence).","entity_name":"MTO1","entity_type":"gene"},{"created":"2022-01-31T10:14:24.762763+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2948","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MTO1 were changed from INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS to Combined oxidative phosphorylation deficiency 10, MIM# 61702","entity_name":"MTO1","entity_type":"gene"},{"created":"2022-01-31T10:13:51.259851+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2947","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 10, MIM# 61702; Mode of inheritance: None","entity_name":"MTO1","entity_type":"gene"},{"created":"2022-01-31T10:04:59.597125+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2947","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MSL3 as ready","entity_name":"MSL3","entity_type":"gene"},{"created":"2022-01-31T10:04:59.586563+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2947","user_name":"Alison Yeung","item_type":"entity","text":"Gene: msl3 has been classified as Green List (High Evidence).","entity_name":"MSL3","entity_type":"gene"},{"created":"2022-01-31T10:04:55.150737+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2947","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MSL3 were changed from Basilicata-Akhtar syndrome, 301032; MSL3 syndrome to Basilicata-Akhtar syndrome, MIM# 301032","entity_name":"MSL3","entity_type":"gene"},{"created":"2022-01-31T10:04:04.848969+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2946","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Basilicata-Akhtar syndrome, MIM# 301032; Mode of inheritance: None","entity_name":"MSL3","entity_type":"gene"},{"created":"2022-01-31T10:00:10.073385+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2946","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 32972427, 26510951, 21266382; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-01-31T10:00:08.804385+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: Established gene-disease association; to: Established gene-disease association\r\n\r\nOnset in infancy and death usually occurs by age 2 years","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-01-31T10:00:05.194794+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2946","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MOCS1 as ready","entity_name":"MOCS1","entity_type":"gene"},{"created":"2022-01-31T10:00:05.174505+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2946","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mocs1 has been classified as Green List (High Evidence).","entity_name":"MOCS1","entity_type":"gene"},{"created":"2022-01-31T09:59:55.022870+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 32972427, 26510951, 21266382; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-01-31T09:53:25.201269+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2946","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MPLKIP as ready","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2022-01-31T09:53:25.184527+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2946","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mplkip has been classified as Green List (High Evidence).","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2022-01-31T09:53:21.040641+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2946","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MPLKIP were changed from TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2022-01-31T09:52:36.295882+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2945","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; Mode of inheritance: None","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2022-01-31T09:46:32.340289+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2945","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MPDU1 as ready","entity_name":"MPDU1","entity_type":"gene"},{"created":"2022-01-31T09:46:32.329336+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2945","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mpdu1 has been classified as Green List (High Evidence).","entity_name":"MPDU1","entity_type":"gene"},{"created":"2022-01-31T09:46:23.816196+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2945","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211 to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211","entity_name":"MPDU1","entity_type":"gene"},{"created":"2022-01-31T09:46:23.135584+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2945","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MPDU1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211","entity_name":"MPDU1","entity_type":"gene"},{"created":"2022-01-31T09:45:57.171348+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2944","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment on phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211","entity_name":"MPDU1","entity_type":"gene"},{"created":"2022-01-31T09:45:57.153335+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2944","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MPDU1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to CONGENITAL DISORDERS OF GLYCOSYLATION","entity_name":"MPDU1","entity_type":"gene"},{"created":"2022-01-31T09:45:21.581139+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2943","user_name":"Alison Yeung","item_type":"entity","text":"commented on gene: MPDU1: Fetal presentation includes microcephaly and severe growth restriction","entity_name":"MPDU1","entity_type":"gene"},{"created":"2022-01-31T09:45:20.269709+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2943","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180; Mode of inheritance: None","entity_name":"MPDU1","entity_type":"gene"},{"created":"2022-01-31T09:40:14.636163+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2943","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MOCS1 were changed from MOLYBDENUM COFACTOR DEFICIENCY to Molybdenum cofactor deficiency A, MIM# 252150","entity_name":"MOCS1","entity_type":"gene"},{"created":"2022-01-31T09:39:44.835427+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2942","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2022-01-31T09:35:10.764150+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2942","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MNX1 as ready","entity_name":"MNX1","entity_type":"gene"},{"created":"2022-01-31T09:35:10.751140+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2942","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mnx1 has been classified as Green List (High Evidence).","entity_name":"MNX1","entity_type":"gene"},{"created":"2022-01-31T09:35:05.608337+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2942","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MNX1 were changed from CURRARINO SYNDROME to Currarino syndrome, MIM# 176450","entity_name":"MNX1","entity_type":"gene"},{"created":"2022-01-31T09:34:24.851956+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2941","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Currarino syndrome, MIM# 176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MNX1","entity_type":"gene"},{"created":"2022-01-31T09:31:11.879446+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2941","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MMP21 as ready","entity_name":"MMP21","entity_type":"gene"},{"created":"2022-01-31T09:31:11.868440+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2941","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mmp21 has been classified as Green List (High Evidence).","entity_name":"MMP21","entity_type":"gene"},{"created":"2022-01-31T09:31:05.121067+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2941","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MMP21 were changed from MMP21-associated heterotaxy to Heterotaxy, visceral, 7, autosomal, MIM# 616749","entity_name":"MMP21","entity_type":"gene"},{"created":"2022-01-31T09:30:29.825977+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2940","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MMP21","entity_type":"gene"},{"created":"2022-01-31T09:26:21.344292+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2940","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MLYCD as ready","entity_name":"MLYCD","entity_type":"gene"},{"created":"2022-01-31T09:26:21.332770+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2940","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mlycd has been classified as Green List (High Evidence).","entity_name":"MLYCD","entity_type":"gene"},{"created":"2022-01-31T09:26:14.230900+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2940","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MLYCD were changed from MALONYL-COA DECARBOXYLASE DEFICIENCY to Malonyl-CoA decarboxylase deficiency, MIM# 248360","entity_name":"MLYCD","entity_type":"gene"},{"created":"2022-01-31T09:25:39.045633+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2939","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MLYCD","entity_type":"gene"},{"created":"2022-01-31T09:25:25.565080+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2939","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28292896; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"LMOD1","entity_type":"gene"},{"created":"2022-01-31T09:19:35.035653+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10812","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34098227, 33598273, 32519343, 32151766, 32151766; Phenotypes: Buschke-Ollendorff syndrome MIM#166700, Osteopoikilosis with or without melorheostosis MIM#166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"LEMD3","entity_type":"gene"},{"created":"2022-01-31T09:16:59.704078+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2939","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: LEMD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Buschke-Ollendorff syndrome MIM#166700, Osteopoikilosis with or without melorheostosis MIM#166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"LEMD3","entity_type":"gene"},{"created":"2022-01-31T09:04:58.832979+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2939","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Spinocerebellar ataxia 15 MIM#606658, Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360, Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ITPR1","entity_type":"gene"},{"created":"2022-01-28T19:59:05.382787+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2939","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAT5B as ready","entity_name":"STAT5B","entity_type":"gene"},{"created":"2022-01-28T19:59:05.371109+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2939","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat5b has been classified as Amber List (Moderate Evidence).","entity_name":"STAT5B","entity_type":"gene"},{"created":"2022-01-28T19:58:58.804905+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2939","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAT5B were changed from GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590","entity_name":"STAT5B","entity_type":"gene"},{"created":"2022-01-28T19:58:26.712116+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2938","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAT5B","entity_type":"gene"},{"created":"2022-01-28T19:55:42.158780+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2938","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAC3 as ready","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-01-28T19:55:42.146946+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2938","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stac3 has been classified as Green List (High Evidence).","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-01-28T19:55:30.499592+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2938","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAC3 were set to 30168660","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-01-28T19:55:07.091203+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2937","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STAC3 as Green List (high evidence)","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-01-28T19:55:07.080427+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2937","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stac3 has been classified as Green List (High Evidence).","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-01-28T19:53:07.279698+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2936","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ST3GAL3 as ready","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2022-01-28T19:53:07.269556+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2936","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: st3gal3 has been classified as Red List (Low Evidence).","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2022-01-28T19:52:48.606171+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2936","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 to Mental retardation, autosomal recessive 12 MIM# 611090; Developmental and epileptic encephalopathy 15, MIM# 615006","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2022-01-28T19:52:35.412645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2935","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ST3GAL3 were set to ","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2022-01-28T19:52:16.716838+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2934","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ST3GAL3 as Red List (low evidence)","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2022-01-28T19:52:16.697311+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2934","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: st3gal3 has been classified as Red List (Low Evidence).","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2022-01-28T19:52:02.770304+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2933","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID: 31584066 reports on two di-chorionic infant twins p.Y220*, presenting with epileptic encephalopathy with impaired neuromotor development.; to: Clinical presentation is typically post-natal.","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2022-01-28T19:51:49.011744+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2933","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ST3GAL3: Changed rating: RED; Changed phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090, Developmental and epileptic encephalopathy 15, MIM# 615006","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2022-01-28T19:49:53.208000+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2933","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPECC1L as ready","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2022-01-28T19:49:53.197484+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2933","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: specc1l has been classified as Green List (High Evidence).","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2022-01-28T19:49:49.448936+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2933","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPECC1L were changed from ?Facial clefting, oblique, 1, OMIM:600251; Hypertelorism, Teebi type, MONDO:0007780; Opitz GBBB syndrome, type II, OMIM:145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779; Tessier number 4 facial cleft, MONDO:0010850; Hypertelorism, Teebi type, OMIM:145420 to Opitz GBBB syndrome, type II, MIM# 145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2022-01-28T19:49:12.729587+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2932","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPECC1L were set to ","entity_name":"SPECC1L","entity_type":"gene"}]}