{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1300","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1298","results":[{"created":"2021-06-13T14:58:50.064932+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-06-13T14:58:29.202864+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHRNE as Amber List (moderate evidence)","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-06-13T14:58:29.193610+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrne has been classified as Amber List (Moderate Evidence).","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-06-13T14:57:59.138309+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenia, multiple types; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-06-12T17:03:01.567845+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRND as ready","entity_name":"CHRND","entity_type":"gene"},{"created":"2021-06-12T17:03:01.552658+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrnd has been classified as Green List (High Evidence).","entity_name":"CHRND","entity_type":"gene"},{"created":"2021-06-12T17:02:58.331426+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRND were changed from Multiple pterygium syndrome, lethal type, MIM# 253290 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668","entity_name":"CHRND","entity_type":"gene"},{"created":"2021-06-12T17:02:26.870726+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRND were changed from  to Multiple pterygium syndrome, lethal type, MIM# 253290","entity_name":"CHRND","entity_type":"gene"},{"created":"2021-06-12T17:01:59.942231+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRND were set to ","entity_name":"CHRND","entity_type":"gene"},{"created":"2021-06-12T17:01:37.397867+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRND","entity_type":"gene"},{"created":"2021-06-12T17:01:13.747398+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 29399782, 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRND","entity_type":"gene"},{"created":"2021-06-12T13:38:07.708497+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNA1 as ready","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2021-06-12T13:38:07.696517+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna1 has been classified as Green List (High Evidence).","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2021-06-12T13:38:05.396853+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNA1 were changed from  to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2021-06-12T13:37:38.015603+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNA1 were set to ","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2021-06-12T13:37:12.438785+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2021-06-12T13:36:42.176440+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CHRNA1: Changed phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2021-06-12T13:36:06.846615+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2021-06-11T20:23:45.217828+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXP1 were set to 26633542; 28741757","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T20:23:14.906218+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: FOXP1: At least 30 unrelated individuals reported.","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T20:23:03.702711+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FOXP1: Changed publications: 26633542, 28741757, 34109629","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T20:22:50.429157+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7948","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXP1 were set to ","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T20:22:30.661789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7947","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T20:22:17.514489+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3857","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXP1 were set to 26633542; 28741757","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T20:22:12.471726+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7946","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 5 unrelated individuals reported.; to: At least 30 unrelated individuals reported.","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T20:22:02.835292+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7946","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FOXP1: Changed publications: 26633542, 28741757, 34109629","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T20:21:37.173572+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3856","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34109629; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T20:20:40.907706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7946","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26633542, 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-06-11T19:40:16.418045+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3856","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-06-11T19:39:51.263016+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1115","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-06-11T19:39:45.258263+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3855","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PARP6: Changed publications: 34067418","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-06-11T19:39:15.310918+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-06-11T19:39:14.574068+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1114","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PARP6: Changed publications: 34067418","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-06-11T19:38:48.751815+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PARP6: Changed publications: 34067418","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-06-11T19:38:47.410157+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7946","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-06-11T19:37:42.003078+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7945","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PARP6: Changed publications: 34067418","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-06-11T18:23:41.695682+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7945","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNAH2: Added comment: PMID 32732226: compound het variants identified in a fetus with hydrops and complex congenital heart disease detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex congenital heart disease, hypotrophic splenium, and common mesentery.; Changed publications: 30811583, 32732226; Changed phenotypes: Spermatogenic failure 45, MIM# 619094, Heterotaxy","entity_name":"DNAH2","entity_type":"gene"},{"created":"2021-06-11T18:22:15.181698+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAH2 as ready","entity_name":"DNAH2","entity_type":"gene"},{"created":"2021-06-11T18:22:15.171045+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah2 has been classified as Red List (Low Evidence).","entity_name":"DNAH2","entity_type":"gene"},{"created":"2021-06-11T18:22:08.446882+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAH2 was added\ngene: DNAH2 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH2 were set to 32732226\nPhenotypes for gene: DNAH2 were set to Hydrops; complex congenital heart disease; heterotaxy\nReview for gene: DNAH2 was set to RED\nAdded comment: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found by exome sequencing. \nSources: Literature","entity_name":"DNAH2","entity_type":"gene"},{"created":"2021-06-11T18:18:19.784593+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7945","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYBPC2 as ready","entity_name":"MYBPC2","entity_type":"gene"},{"created":"2021-06-11T18:18:19.773101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7945","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mybpc2 has been classified as Red List (Low Evidence).","entity_name":"MYBPC2","entity_type":"gene"},{"created":"2021-06-11T18:17:20.465947+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7945","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYBPC2 was added\ngene: MYBPC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYBPC2 were set to 32732226\nPhenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium\nReview for gene: MYBPC2 was set to RED\nAdded comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs. \nSources: Literature","entity_name":"MYBPC2","entity_type":"gene"},{"created":"2021-06-11T18:16:03.628809+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYBPC2 as ready","entity_name":"MYBPC2","entity_type":"gene"},{"created":"2021-06-11T18:16:03.617312+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mybpc2 has been classified as Red List (Low Evidence).","entity_name":"MYBPC2","entity_type":"gene"},{"created":"2021-06-11T18:00:49.609920+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYBPC2 was added\ngene: MYBPC2 was added to Multiple pterygium syndrome. Sources: Literature\nMode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYBPC2 were set to 32732226\nPhenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium\nReview for gene: MYBPC2 was set to RED\nAdded comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs. \nSources: Literature","entity_name":"MYBPC2","entity_type":"gene"},{"created":"2021-06-11T17:57:45.769182+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7944","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN7A as ready","entity_name":"SCN7A","entity_type":"gene"},{"created":"2021-06-11T17:57:45.759357+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7944","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn7a has been classified as Red List (Low Evidence).","entity_name":"SCN7A","entity_type":"gene"},{"created":"2021-06-11T17:57:36.843774+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7944","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN7A was added\ngene: SCN7A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCN7A were set to 32732226\nPhenotypes for gene: SCN7A were set to Holoprosencephaly\nReview for gene: SCN7A was set to RED\nAdded comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation. \nSources: Literature","entity_name":"SCN7A","entity_type":"gene"},{"created":"2021-06-11T17:56:08.653843+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN7A as ready","entity_name":"SCN7A","entity_type":"gene"},{"created":"2021-06-11T17:56:08.643758+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn7a has been classified as Red List (Low Evidence).","entity_name":"SCN7A","entity_type":"gene"},{"created":"2021-06-11T17:55:27.606464+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN7A was added\ngene: SCN7A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCN7A were set to 32732226\nPhenotypes for gene: SCN7A were set to Holoprosencephaly\nReview for gene: SCN7A was set to RED\nAdded comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation. \nSources: Literature","entity_name":"SCN7A","entity_type":"gene"},{"created":"2021-06-11T17:52:55.263643+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7943","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPTBN5 as ready","entity_name":"SPTBN5","entity_type":"gene"},{"created":"2021-06-11T17:52:55.254191+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7943","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sptbn5 has been classified as Red List (Low Evidence).","entity_name":"SPTBN5","entity_type":"gene"},{"created":"2021-06-11T17:52:44.750025+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7943","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPTBN5 was added\ngene: SPTBN5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPTBN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPTBN5 were set to 32732226; 28007035\nPhenotypes for gene: SPTBN5 were set to Sacral agenesis; congenital anomalies\nReview for gene: SPTBN5 was set to RED\nAdded comment: Identified as a candidate gene in a sacral agenesis cohort.\r\n\r\nPMID 32732226: compound het variants identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. \nSources: Literature","entity_name":"SPTBN5","entity_type":"gene"},{"created":"2021-06-11T17:47:28.334486+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7942","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR91 were changed from  to Hydrocephalus; cerebellar hypoplasia; hygroma","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:47:08.382753+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7941","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WDR91 were set to ","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:46:44.881894+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7940","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WDR91 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:46:28.365899+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7939","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR91 as Amber List (moderate evidence)","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:46:28.354064+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7939","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr91 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:46:11.882243+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7938","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: WDR91: PMID 32732226: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents. Mouse models support role in brain development.","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:46:00.668072+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR91 as ready","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:46:00.658339+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr91 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:45:55.697082+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7938","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WDR91: Rating: AMBER; Mode of pathogenicity: None; Publications: 34028500, 28860274, 32732226; Phenotypes: Hydrocephalus, cerebellar hypoplasia, hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:44:55.945660+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR91 as Amber List (moderate evidence)","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:44:55.935680+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr91 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T17:38:23.417855+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR91 was added\ngene: WDR91 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR91 were set to 34028500; 28860274; 32732226\nPhenotypes for gene: WDR91 were set to Hydrocephalus; cerebellar hypoplasia; hygroma\nReview for gene: WDR91 was set to AMBER\nAdded comment: PMID 32732226: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents.\r\n\r\nMouse models support role in brain development. \nSources: Literature","entity_name":"WDR91","entity_type":"gene"},{"created":"2021-06-11T16:01:20.764676+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7938","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEKHN1 as ready","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2021-06-11T16:01:20.755776+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7938","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plekhn1 has been classified as Red List (Low Evidence).","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2021-06-11T16:01:11.497022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7938","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLEKHN1 was added\ngene: PLEKHN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLEKHN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHN1 were set to 33884296\nPhenotypes for gene: PLEKHN1 were set to Sensory Neuropathy\nReview for gene: PLEKHN1 was set to RED\nAdded comment: Hom missense variant in single patient with severely reduced/absent pain and temperature sensation \nSources: Literature","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2021-06-11T15:59:41.773721+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEKHN1 as ready","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2021-06-11T15:59:41.764127+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plekhn1 has been classified as Red List (Low Evidence).","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2021-06-11T15:58:10.872821+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7937","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF3 as ready","entity_name":"ZNF3","entity_type":"gene"},{"created":"2021-06-11T15:58:10.860838+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7937","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf3 has been classified as Red List (Low Evidence).","entity_name":"ZNF3","entity_type":"gene"},{"created":"2021-06-11T15:58:02.368757+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF3 as ready","entity_name":"ZNF3","entity_type":"gene"},{"created":"2021-06-11T15:58:02.353283+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf3 has been classified as Red List (Low Evidence).","entity_name":"ZNF3","entity_type":"gene"},{"created":"2021-06-11T15:57:52.565041+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF3 was added\ngene: ZNF3 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF3 were set to 32732226\nPhenotypes for gene: ZNF3 were set to Hydrocephalus; cleft palate; microphthalmia\nReview for gene: ZNF3 was set to RED\nAdded comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing. \nSources: Literature","entity_name":"ZNF3","entity_type":"gene"},{"created":"2021-06-11T15:57:41.789763+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF3 as ready","entity_name":"ZNF3","entity_type":"gene"},{"created":"2021-06-11T15:57:41.780372+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf3 has been classified as Red List (Low Evidence).","entity_name":"ZNF3","entity_type":"gene"},{"created":"2021-06-11T15:57:01.272139+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF3 was added\ngene: ZNF3 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF3 were set to 32732226\nPhenotypes for gene: ZNF3 were set to Hydrocephalus; cleft palate; microphthalmia\nReview for gene: ZNF3 was set to RED\nAdded comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing. \nSources: Literature","entity_name":"ZNF3","entity_type":"gene"},{"created":"2021-06-11T15:56:05.309492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7937","user_name":"Seb Lunke","item_type":"entity","text":"changed review comment from: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation \nSources: Literature; to: Hom missense variant in twin sisters with severely reduced pain and temperature sensation \r\nSources: Literature","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2021-06-11T15:55:51.697937+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7937","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF3 was added\ngene: ZNF3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF3 were set to 32732226\nPhenotypes for gene: ZNF3 were set to Hydrocephalus; cleft palate; microphthalmia\nReview for gene: ZNF3 was set to RED\nAdded comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing. \nSources: Literature","entity_name":"ZNF3","entity_type":"gene"},{"created":"2021-06-11T15:55:44.782524+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.28","user_name":"Seb Lunke","item_type":"entity","text":"gene: PLEKHN1 was added\ngene: PLEKHN1 was added to Pain syndromes. Sources: Literature\nMode of inheritance for gene: PLEKHN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHN1 were set to 33884296\nPhenotypes for gene: PLEKHN1 were set to Sensory Neuropathy\nAdded comment: Hom missense variant in single patient with severely reduced/absent pain and temperature sensation \nSources: Literature","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2021-06-11T15:55:06.885588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7936","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SMPDL3A as ready","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2021-06-11T15:55:06.875823+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7936","user_name":"Seb Lunke","item_type":"entity","text":"Gene: smpdl3a has been classified as Red List (Low Evidence).","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2021-06-11T15:54:06.410966+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7936","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WRAP73 as ready","entity_name":"WRAP73","entity_type":"gene"},{"created":"2021-06-11T15:54:06.400961+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7936","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wrap73 has been classified as Amber List (Moderate Evidence).","entity_name":"WRAP73","entity_type":"gene"},{"created":"2021-06-11T15:53:17.358341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7936","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WRAP73 as Amber List (moderate evidence)","entity_name":"WRAP73","entity_type":"gene"},{"created":"2021-06-11T15:53:17.349346+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7936","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wrap73 has been classified as Amber List (Moderate Evidence).","entity_name":"WRAP73","entity_type":"gene"},{"created":"2021-06-11T15:53:07.237566+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7936","user_name":"Seb Lunke","item_type":"entity","text":"gene: SMPDL3A was added\ngene: SMPDL3A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SMPDL3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMPDL3A were set to 33884296\nPhenotypes for gene: SMPDL3A were set to Sensory Neuropathy\nAdded comment: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation \nSources: Literature","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2021-06-11T15:52:55.944000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7935","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WRAP73 was added\ngene: WRAP73 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WRAP73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WRAP73 were set to 33693649\nPhenotypes for gene: WRAP73 were set to Microsperophakia\nReview for gene: WRAP73 was set to AMBER\nAdded comment: Two Indian families with same homozygous missense, (p.Pro383Leu) and supportive functional data (zebrafish model). \nSources: Literature","entity_name":"WRAP73","entity_type":"gene"},{"created":"2021-06-11T15:40:57.515288+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.27","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SMPDL3A as ready","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2021-06-11T15:40:57.504673+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.27","user_name":"Seb Lunke","item_type":"entity","text":"Gene: smpdl3a has been classified as Red List (Low Evidence).","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2021-06-11T15:40:47.371917+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.27","user_name":"Seb Lunke","item_type":"entity","text":"gene: SMPDL3A was added\ngene: SMPDL3A was added to Pain syndromes. Sources: Literature\nMode of inheritance for gene: SMPDL3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMPDL3A were set to 33884296\nPhenotypes for gene: SMPDL3A were set to Sensory Neuropathy\nReview for gene: SMPDL3A was set to RED\nAdded comment: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation \nSources: Literature","entity_name":"SMPDL3A","entity_type":"gene"},{"created":"2021-06-11T15:30:02.399223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7934","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EIF2AK2 were changed from Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness; Dystonia","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2021-06-11T15:29:38.242004+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7933","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EIF2AK2: Changed publications: 33236446, 33866603","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2021-06-11T15:29:08.871200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7933","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EIF2AK2 were set to 32197074","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2021-06-11T15:28:39.846231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7932","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EIF2AK2: Added comment: Four unrelated families reported with dystonia, recurrent variant, (p.Gly130Arg); Changed publications: 32197074, 33866603; Changed phenotypes: Intellectual disability, white matter abnormalities, ataxia, regression with febrile illness, Dystonia","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2021-06-11T15:27:26.181378+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EIF2AK2 were set to 33236446","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2021-06-11T15:27:12.558652+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF2AK2 as Green List (high evidence)","entity_name":"EIF2AK2","entity_type":"gene"}]}