{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=978","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=976","results":[{"created":"2022-02-23T12:28:16.761564+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3913","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLOD3 as Green List (high evidence)","entity_name":"PLOD3","entity_type":"gene"},{"created":"2022-02-23T12:28:16.751370+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3913","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plod3 has been classified as Green List (High Evidence).","entity_name":"PLOD3","entity_type":"gene"},{"created":"2022-02-23T12:27:09.926663+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3912","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LOXL3 as ready","entity_name":"LOXL3","entity_type":"gene"},{"created":"2022-02-23T12:27:09.917026+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3912","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxl3 has been classified as Amber List (Moderate Evidence).","entity_name":"LOXL3","entity_type":"gene"},{"created":"2022-02-23T12:27:03.762364+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3912","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LOXL3 as Amber List (moderate evidence)","entity_name":"LOXL3","entity_type":"gene"},{"created":"2022-02-23T12:27:03.749032+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3912","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxl3 has been classified as Amber List (Moderate Evidence).","entity_name":"LOXL3","entity_type":"gene"},{"created":"2022-02-23T12:24:59.903389+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3911","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDIA6 as ready","entity_name":"PDIA6","entity_type":"gene"},{"created":"2022-02-23T12:24:59.893709+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3911","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdia6 has been classified as Amber List (Moderate Evidence).","entity_name":"PDIA6","entity_type":"gene"},{"created":"2022-02-23T12:24:51.524258+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3911","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDIA6 as Amber List (moderate evidence)","entity_name":"PDIA6","entity_type":"gene"},{"created":"2022-02-23T12:24:51.511889+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3911","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdia6 has been classified as Amber List (Moderate Evidence).","entity_name":"PDIA6","entity_type":"gene"},{"created":"2022-02-23T12:24:13.035013+11:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770","entity_name":"GRK2","entity_type":"gene"},{"created":"2022-02-23T12:23:30.316243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11067","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770","entity_name":"GRK2","entity_type":"gene"},{"created":"2022-02-23T12:23:03.953869+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770","entity_name":"GRK2","entity_type":"gene"},{"created":"2022-02-23T12:22:15.727838+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3910","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRK2 as ready","entity_name":"GRK2","entity_type":"gene"},{"created":"2022-02-23T12:22:15.715535+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3910","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grk2 has been classified as Amber List (Moderate Evidence).","entity_name":"GRK2","entity_type":"gene"},{"created":"2022-02-23T12:22:11.934213+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3910","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770","entity_name":"GRK2","entity_type":"gene"},{"created":"2022-02-23T12:21:08.673994+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3909","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRK2 as Amber List (moderate evidence)","entity_name":"GRK2","entity_type":"gene"},{"created":"2022-02-23T12:21:08.662404+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3909","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grk2 has been classified as Amber List (Moderate Evidence).","entity_name":"GRK2","entity_type":"gene"},{"created":"2022-02-23T12:07:10.931681+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Krithika Murali","item_type":"entity","text":"gene: RASA2 was added\ngene: RASA2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RASA2 were set to 25049390\nPhenotypes for gene: RASA2 were set to Noonan syndrome\nReview for gene: RASA2 was set to AMBER\nAdded comment: No OMIM gene disease association. Borderline red-amber gene. No new publications since last PanelApp review in 2020\r\n\r\n--\r\n\r\nOne previous paper from 2014 described 3 patients with Noonan Syndrome and novel variants in RASA2. No segregation or functional data on the specific variants was provided. One of the three patients had an alternative variant in a different candidate gene.\r\n\r\nA more recent review using ClinGen criteria (2018) only found the disease association to have limited evidence, with no further patients identified since the 2014 paper, and none since. \nSources: Literature","entity_name":"RASA2","entity_type":"gene"},{"created":"2022-02-23T11:58:49.461813+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.191","user_name":"Krithika Murali","item_type":"entity","text":"gene: MAPK1 was added\ngene: MAPK1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK1 were set to 32721402\nPhenotypes for gene: MAPK1 were set to Noonan syndrome 13 - MIM#619087\nReview for gene: MAPK1 was set to GREEN\nAdded comment: Associated with Noonan syndrome including congenital heart defects. No new publications since last PanelApp review Aug 2020\r\n\r\n--\r\nMotta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.\r\n\r\nThe phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.\r\n\r\nMAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.\r\n\r\nMAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).\r\n\r\nThe distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). \nSources: Literature","entity_name":"MAPK1","entity_type":"gene"},{"created":"2022-02-23T11:57:40.649563+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Krithika Murali","item_type":"entity","text":"gene: MAPK1 was added\ngene: MAPK1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK1 were set to 32721402\nPhenotypes for gene: MAPK1 were set to Noonan syndrome 13 - MIM#619087\nReview for gene: MAPK1 was set to GREEN\nAdded comment: Associated with Noonan syndrome including congenital heart defects. No new publications since last PanelApp review Aug 2020\r\n\r\n--\r\nMotta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.\r\n\r\nThe phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.\r\n\r\nMAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.\r\n\r\nMAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).\r\n\r\nThe distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). \nSources: Literature","entity_name":"MAPK1","entity_type":"gene"},{"created":"2022-02-23T11:45:38.972744+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PLOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18834968, 30237576, 30463024, 31129566; Phenotypes: Lysyl hydroxylase 3 deficiency - MIM#612394, Stickler-syndrome like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLOD3","entity_type":"gene"},{"created":"2022-02-23T11:43:38.610342+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Krithika Murali","item_type":"entity","text":"Deleted their review","entity_name":"PLOD3","entity_type":"gene"},{"created":"2022-02-23T11:42:40.562332+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Krithika Murali","item_type":"entity","text":"gene: PLOD3 was added\ngene: PLOD3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLOD3 were set to 30237576; 18834968\nPhenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency - MIM#612394\nReview for gene: PLOD3 was set to GREEN\nAdded comment: 4 unrelated families reported with biallelic PLOD3 variants and Stickler-syndrome like phenotype including antenatal phenotype of IUGR in one family. \r\n--\r\nPMID 30237576 Maddirevula et al 2019 - report homozygous nonsense variant in a proband with dysmorphic facies, microcephaly, ptosis and contractures. No antenatal information provided.\r\n\r\nPMID 31129566 Ewans et al 2019 - report 3 affected siblings with a Stickler-syndrome like disorder.  \r\n- Patient 1 had congenital nystagmus and presented with hearing loss and myopia. On examination aged 2, noted to have dysmorphic features - prominent eyes, hypertelorism, malar hypoplasia, an upturned nose, low-set ears and microretrognathia.  \r\n- Patient 2 noted to have camptodactyly and clinodactyly postnatally.  On examination age 5 noted to have DIP joint contractures and mild skin syndactyly.  \r\n- Patient 3 - breech delivery. bilateral hand foot camptodactyly, facial dysmorphism.\r\n- No antenatal features reported.\r\n\r\nPMID 30463024 Vahidnehzad et al 2019 - report a male proband from a consanguineous Iranian Baloch family referred for assessment age 4.5. Noted to have developmental delay, musculoskeletal manifestations including scoliosis, flexion contractions, cutaneous syndactyly, right diaphragmatic eventration, ocular anomalies, growth failure and skin blisters. No concerns antenatally. Postnatally noted to have cataract and facial dysmorphism (midface hypoplasia).  Homozygous PLOD3 missense variant identified, parents unaffected carriers. PLOD3 mRNA levels in the patient’s fibroblasts measured by whole-transcriptome sequencing and confirmed by RT-PCR, were the same as in control cells, however, the expression of type VII collagen was reduced significantly. No antenatal features reported.\r\n\r\nPMID: 18834968 Salo et al 2008 - a female proband with significant IUGR, characteristic craniofacial profile, diaphragm eventration, skeletal anomalies (bilateral talipes equinovarus, flexion contractures, scoliosis from age 7), skin anomalies incl blistering and ocular anomalies.  One 28 week male stillborn sibling noted to have significant IUGR and skeletal anomalies on post-mortem. Supportive functional evidence.  Compound het PLOD3 variants. \nSources: Literature","entity_name":"PLOD3","entity_type":"gene"},{"created":"2022-02-23T10:42:47.027476+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Krithika Murali","item_type":"entity","text":"gene: LOXL3 was added\ngene: LOXL3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LOXL3 were set to 25663169; 26307084; 26957899; 29802726; 30362103; 34787502\nPhenotypes for gene: LOXL3 were set to Stickler syndrome; cleft lip/palate\nReview for gene: LOXL3 was set to AMBER\nAdded comment: Biallelic variants reported in association with Stickler syndrome in 2 unrelated families. Also identified in one individual with non-syndromic Pierre Robin sequence who had a CNV also.\r\n\r\n---\r\n\r\nPMID 34787502 Sood et al 2021 - proband with non-syndromic Pierre Robin sequence - homozygous missense LOXL3 variant identified. Sibling also had non-syndromic PRS, but genetic testing declined by family. In addition 551 kb chr10q26.2 duplication identified, no parental testing information provided, not previously reported to be associated with CL/P.  \r\n\r\nPMID 30362103 Chan et al 2019 - report father and son with Stickler syndrome and homozygous LOXL3 missense variants. Predominantly ocular phenotype with no antenatal features reported.\r\n\r\nPMID: 29802726 Khan et al 2018 - genotyping of 258 probands with non-syndromic cleft palate  (nsCP) and their parents, focusing in particular on common missense variant p.Ile615Phe.  Identified four Phe/Phe homozygotes, report significant association between infant’s homozygote Phe/Phe genotype and the risk of nsCP, compared to common Ile/Ile homozygotes\r\n\r\nPMID 26957899 Li et al 2016 - A homozygous frameshift mutation (c.39dup; p.L14Afs*21) and a compound heterozygous frameshift mutation (c.39dup; p.L14Afs*21 and c.594delG; p.Q199Kfs*35) in LOXL3 were separately identified in two of 298 probands with early-onset high myopia. \r\n\r\nPMID: 26307084 Zhang et al 2015 - Mice lacking LOXL3 exhibited perinatal lethality and were noted to have cleft palate and spinal deformity. \r\n\r\nPMID: 25663169 Alzahrani et al 2015 - homozygous variant identified in 2 children with Stickler syndrome from the same family, both children had cleft lip/palate. \nSources: Literature","entity_name":"LOXL3","entity_type":"gene"},{"created":"2022-02-23T09:27:53.547607+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Krithika Murali","item_type":"entity","text":"gene: PDIA6 was added\ngene: PDIA6 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDIA6 were set to 33495992\nPhenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes\nReview for gene: PDIA6 was set to AMBER\nAdded comment: No new publications since last PanelApp review. Single case upgraded to Amber on the basis of functional data\r\n\r\n---\r\n\r\n1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans. \nSources: Literature","entity_name":"PDIA6","entity_type":"gene"},{"created":"2022-02-23T09:24:40.054027+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Krithika Murali","item_type":"entity","text":"gene: GRK2 was added\ngene: GRK2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRK2 were set to 33200460\nPhenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)\nReview for gene: GRK2 was set to AMBER\nAdded comment: 2 unrelated families from a single study reported with supportive functional evidence. \nSources: Literature","entity_name":"GRK2","entity_type":"gene"},{"created":"2022-02-22T19:43:52.633156+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN1A as ready","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-02-22T19:43:52.623667+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn1a has been classified as Green List (High Evidence).","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-02-22T19:43:48.461231+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3908","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN1A were set to 29543227; 32928894","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-02-22T19:43:35.338036+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3907","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-02-22T19:43:09.431043+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3906","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Arthrogryposis reported.; to: Arthrogryposis and malformations of cortical development reported.","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-02-22T19:42:57.689747+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3906","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN1A: Changed publications: 35072530, 33820833","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-02-22T19:42:31.917815+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3906","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN1A as Green List (high evidence)","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-02-22T19:42:31.906772+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3906","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn1a has been classified as Green List (High Evidence).","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-02-22T19:42:21.025214+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3905","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN1A: Added comment: Arthrogryposis reported.; Changed publications: 33820833","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-02-22T19:41:12.382701+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3905","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH3 as ready","entity_name":"RSPH3","entity_type":"gene"},{"created":"2022-02-22T19:41:12.371538+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3905","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph3 has been classified as Red List (Low Evidence).","entity_name":"RSPH3","entity_type":"gene"},{"created":"2022-02-22T19:41:07.586278+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3905","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH3 were changed from PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS to Ciliary dyskinesia, primary, 32 (MIM#616481)","entity_name":"RSPH3","entity_type":"gene"},{"created":"2022-02-22T19:40:55.711155+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3904","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH3 were set to 30166424","entity_name":"RSPH3","entity_type":"gene"},{"created":"2022-02-22T19:40:28.551895+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3903","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH1 as ready","entity_name":"RSPH1","entity_type":"gene"},{"created":"2022-02-22T19:40:28.539312+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3903","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph1 has been classified as Red List (Low Evidence).","entity_name":"RSPH1","entity_type":"gene"},{"created":"2022-02-22T19:40:14.946885+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3903","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH1 were changed from PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS to Ciliary dyskinesia, primary, 24 (MIM#615481)","entity_name":"RSPH1","entity_type":"gene"},{"created":"2022-02-22T19:40:04.799919+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3902","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH1 were set to 30166424","entity_name":"RSPH1","entity_type":"gene"},{"created":"2022-02-22T19:08:34.847900+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3901","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTEN as ready","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-02-22T19:08:34.829930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3901","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pten has been classified as Amber List (Moderate Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-02-22T19:08:28.468583+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3901","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTEN were changed from LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; COWDEN DISEASE; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS; MACROCEPHALY/AUTISM SYNDROME to Macrocephaly/autism syndrome, MIM# 605309","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-02-22T19:08:15.735433+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3900","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTEN were set to ","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-02-22T19:08:05.734637+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3899","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-02-22T19:07:49.550907+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3898","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 10 individuals reported with PMG.; to: More than 10 individuals reported with PMG, otherwise clinical presentation is generally post-natal.","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-02-22T19:07:34.746368+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3898","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PTEN: Changed rating: AMBER","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-02-22T19:07:23.815173+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3898","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTEN as Amber List (moderate evidence)","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-02-22T19:07:23.804157+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3898","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pten has been classified as Amber List (Moderate Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-02-22T17:58:33.522784+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3897","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYCR1 as ready","entity_name":"PYCR1","entity_type":"gene"},{"created":"2022-02-22T17:58:33.503738+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3897","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pycr1 has been classified as Green List (High Evidence).","entity_name":"PYCR1","entity_type":"gene"},{"created":"2022-02-22T17:58:29.764509+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3897","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PYCR1 were changed from CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB to Cutis laxa, autosomal recessive, type IIB, MIM# 612940","entity_name":"PYCR1","entity_type":"gene"},{"created":"2022-02-22T17:58:13.784012+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3896","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB, MIM# 612940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PYCR1","entity_type":"gene"},{"created":"2022-02-22T17:57:06.543853+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3896","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTS as ready","entity_name":"PTS","entity_type":"gene"},{"created":"2022-02-22T17:57:06.528227+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3896","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pts has been classified as Green List (High Evidence).","entity_name":"PTS","entity_type":"gene"},{"created":"2022-02-22T17:57:03.005378+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3896","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTS were changed from 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640","entity_name":"PTS","entity_type":"gene"},{"created":"2022-02-22T17:56:45.947939+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3895","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTS","entity_type":"gene"},{"created":"2022-02-22T17:55:55.352290+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3895","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTH1R as ready","entity_name":"PTH1R","entity_type":"gene"},{"created":"2022-02-22T17:55:55.339394+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3895","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pth1r has been classified as Green List (High Evidence).","entity_name":"PTH1R","entity_type":"gene"},{"created":"2022-02-22T17:55:50.195610+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3895","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTH1R were changed from PRIMARY FAILURE OF TOOTH ERUPTION; EIKEN SKELETAL DYSPLASIA; CHONDRODYSPLASIA BLOMSTRAND TYPE; JANSEN METAPHYSEAL CHONDRODYSPLASIA to Chondrodysplasia, Blomstrand type, MIM#\t215045","entity_name":"PTH1R","entity_type":"gene"},{"created":"2022-02-22T17:55:18.843767+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3894","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTH1R were set to ","entity_name":"PTH1R","entity_type":"gene"},{"created":"2022-02-22T17:54:15.134624+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3893","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTHLH as ready","entity_name":"PTHLH","entity_type":"gene"},{"created":"2022-02-22T17:54:15.122853+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3893","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pthlh has been classified as Amber List (Moderate Evidence).","entity_name":"PTHLH","entity_type":"gene"},{"created":"2022-02-22T17:54:08.205170+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3893","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTHLH as Amber List (moderate evidence)","entity_name":"PTHLH","entity_type":"gene"},{"created":"2022-02-22T17:54:08.192629+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3893","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pthlh has been classified as Amber List (Moderate Evidence).","entity_name":"PTHLH","entity_type":"gene"},{"created":"2022-02-22T17:53:58.199677+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3892","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Identifiable prenatally.; to: May be identifiable prenatally.","entity_name":"PTHLH","entity_type":"gene"},{"created":"2022-02-22T17:53:50.501799+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3892","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PTHLH: Changed rating: AMBER","entity_name":"PTHLH","entity_type":"gene"},{"created":"2022-02-22T17:53:41.417262+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3892","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTHLH were changed from BRACHYDACTYLY, TYPE E2; CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS to Brachydactyly, type E2, MIM# 613382","entity_name":"PTHLH","entity_type":"gene"},{"created":"2022-02-22T17:52:07.436244+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3891","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type E2, MIM# 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTHLH","entity_type":"gene"},{"created":"2022-02-22T17:51:18.277838+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3891","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTF1A as ready","entity_name":"PTF1A","entity_type":"gene"},{"created":"2022-02-22T17:51:18.268462+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3891","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptf1a has been classified as Green List (High Evidence).","entity_name":"PTF1A","entity_type":"gene"},{"created":"2022-02-22T17:51:14.610702+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3891","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTF1A were changed from PANCREATIC AGENESIS; DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS to Pancreatic and cerebellar agenesis, MIM# 609069","entity_name":"PTF1A","entity_type":"gene"},{"created":"2022-02-22T17:51:01.779269+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3890","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTF1A were set to ","entity_name":"PTF1A","entity_type":"gene"},{"created":"2022-02-22T17:50:48.336850+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21749365, 10507728, 15543146, 19650412; Phenotypes: Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTF1A","entity_type":"gene"},{"created":"2022-02-22T17:49:36.091210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11066","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTDSS1 as ready","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T17:49:36.075437+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11066","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptdss1 has been classified as Green List (High Evidence).","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T17:49:24.194514+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11066","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTDSS1 were changed from  to Lenz-Majewski hyperostotic dwarfism MIM#151050","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T17:49:03.890231+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11065","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTDSS1 were set to ","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T17:48:44.065990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11064","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTDSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T16:42:56.007204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11063","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24241535, 29341480, 31403251; Phenotypes: Lenz-Majewski hyperostotic dwarfism MIM#151050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T16:41:59.842249+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTDSS1 as ready","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T16:41:59.829562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptdss1 has been classified as Green List (High Evidence).","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T16:41:56.114627+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTDSS1 were changed from LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM to Lenz-Majewski hyperostotic dwarfism MIM#151050","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T16:41:44.423696+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3888","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTDSS1 were set to ","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T16:41:33.354498+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3887","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTDSS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T16:41:20.332294+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3886","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24241535, 29341480, 31403251; Phenotypes: Lenz-Majewski hyperostotic dwarfism MIM#151050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-02-22T16:38:34.658619+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3886","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSPH as ready","entity_name":"PSPH","entity_type":"gene"},{"created":"2022-02-22T16:38:34.646534+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3886","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psph has been classified as Green List (High Evidence).","entity_name":"PSPH","entity_type":"gene"},{"created":"2022-02-22T16:38:30.902876+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3886","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSPH were changed from PHOSPHOSERINE PHOSPHATASE DEFICIENCY; NEU-LAXOVA to Phosphoserine phosphatase deficiency , MIM#614023; Neu-Luxova syndrome","entity_name":"PSPH","entity_type":"gene"},{"created":"2022-02-22T16:38:16.499932+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3885","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSPH were set to ","entity_name":"PSPH","entity_type":"gene"},{"created":"2022-02-22T16:37:59.844337+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3884","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 14673469, 25080166, 27604308, 26888760, 25152457; Phenotypes: Phosphoserine phosphatase deficiency , MIM#614023, Neu-Luxova syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PSPH","entity_type":"gene"},{"created":"2022-02-22T16:35:15.589423+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3884","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR1D as ready","entity_name":"POLR1D","entity_type":"gene"},{"created":"2022-02-22T16:35:15.572178+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3884","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1d has been classified as Green List (High Evidence).","entity_name":"POLR1D","entity_type":"gene"},{"created":"2022-02-22T16:35:11.509773+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3884","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR1D were changed from TREACHER COLLINS SYNDROME TYPE 2 to Treacher Collins syndrome 2, MIM# 613717","entity_name":"POLR1D","entity_type":"gene"},{"created":"2022-02-22T16:34:58.504606+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3883","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLR1D were set to ","entity_name":"POLR1D","entity_type":"gene"},{"created":"2022-02-22T16:34:41.809885+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3882","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLR1D","entity_type":"gene"}]}