{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1059","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1057","results":[{"created":"2022-01-06T16:10:16.460868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10539","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC26A2 were changed from  to Achondrogenesis 1B, MIM#600972; Atelosteogenesis, type II, MIM#256050; Diastrophic dysplasia, MIM#222600; Epiphyseal dysplasia, multiple, 4, MIM#226900","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-01-06T16:09:40.397229+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1883","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC26A2 as ready","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-01-06T16:09:40.387241+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1883","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc26a2 has been classified as Green List (High Evidence).","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-01-06T16:09:34.332868+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1883","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC26A2 were changed from ACHONDROGENESIS TYPE 1B; DIASTROPHIC DYSPLASIA; ATELOSTEOGENESIS TYPE 2; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 to Achondrogenesis 1B, MIM#600972; Atelosteogenesis, type II, MIM#256050; Diastrophic dysplasia, MIM#222600; Epiphyseal dysplasia, multiple, 4, MIM#226900","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-01-06T16:09:26.823761+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10538","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC26A2 were set to ","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-01-06T16:09:19.806495+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1882","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC26A2 were set to ","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-01-06T16:08:34.732793+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10537","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SLC26A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-01-06T16:07:48.746778+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Radio-ulnar synostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMAD6","entity_type":"gene"},{"created":"2022-01-06T16:07:38.651954+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1881","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301483, 20301689; Phenotypes: Achondrogenesis 1B, MIM#600972, Atelosteogenesis, type II,  MIM#256050, Diastrophic dysplasia, MIM#222600, Epiphyseal dysplasia, multiple, 4, MIM#226900; Mode of inheritance: None","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-01-06T16:07:33.889015+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10536","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301483, 20301689; Phenotypes: Achondrogenesis 1B, MIM#600972, Atelosteogenesis, type II,  MIM#256050, Diastrophic dysplasia, MIM#222600, Epiphyseal dysplasia, multiple, 4, MIM#226900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2022-01-06T16:06:20.540694+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1881","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA1A were changed from INTELLECTUAL DISABILITY; LISSENCEPHALY TYPE 3 to Lissencephaly 3, MIM# 611603","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2022-01-06T16:06:08.179468+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1880","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA1A were set to ","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2022-01-06T16:05:56.061978+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1879","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2022-01-06T16:05:04.912625+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10536","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB4A as ready","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T16:05:04.901389+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10536","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb4a has been classified as Green List (High Evidence).","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T16:04:54.375483+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1878","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, 613180; POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-01-06T16:04:02.662012+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10536","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBB4A were changed from  to Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T16:03:37.615429+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10535","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB4A were set to ","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T16:03:18.037606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10534","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T16:02:50.283964+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10533","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24850488, 23582646, 23424103, 23595291, 33084096, 32943487; Phenotypes: Dystonia 4, torsion, autosomal dominant, OMIM #128101, Leukodystrophy, hypomyelinating, 6, OMIM # 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T16:00:26.278190+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1877","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBB4A were changed from HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM to Leukodystrophy, hypomyelinating, 6, MIM# 602662","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T16:00:13.414959+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1876","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB4A were set to ","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T15:59:40.141088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10533","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TWIST1 as ready","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:59:40.124618+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10533","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: twist1 has been classified as Green List (High Evidence).","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:59:31.383502+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10533","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TWIST1 were changed from  to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:59:11.843918+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10532","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TWIST1 were set to ","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:58:51.799237+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10531","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TWIST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:58:32.591846+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10530","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: TWIST1.\nTag 5'UTR tag was added to gene: TWIST1.","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:58:19.687232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10530","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17343269, 9585583, 12116251, 31299755, 30040876; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746, Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:54:18.504477+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TWIST1 were changed from Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746 to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM#\t180750","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:53:32.512462+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10530","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC25A24 as ready","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:53:32.502211+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10530","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc25a24 has been classified as Green List (High Evidence).","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:53:29.055499+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1874","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC25A24 as ready","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:53:29.045429+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1874","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc25a24 has been classified as Green List (High Evidence).","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:53:26.597395+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1874","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: TWIST1.\nTag 5'UTR tag was added to gene: TWIST1.","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:53:13.967945+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1874","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction to Fontaine progeroid syndrome, MIM#612289","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:52:55.998367+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1873","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TWIST1 were changed from SAETHRE-CHOTZEN SYNDROME; CRANIOSYNOSTOSIS, TYPE 1 to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:52:44.222311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10530","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC25A24 were changed from  to Fontaine progeroid syndrome, MIM#612289","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:52:39.140421+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1872","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TWIST1 were set to ","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T15:52:31.275781+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1871","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100093, 29100094, 29100094, 31775791, 32732226, 32860237; Phenotypes: FONTAINE PROGEROID SYNDROME, MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:52:11.049858+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1871","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UROS were changed from CONGENITAL ERYTHROPOIETIC PORPHYRIA to Porphyria, congenital erythropoietic, MIM# 263700","entity_name":"UROS","entity_type":"gene"},{"created":"2022-01-06T15:51:59.943944+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1870","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UROS were set to ","entity_name":"UROS","entity_type":"gene"},{"created":"2022-01-06T15:51:33.558191+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10529","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC25A24 were set to ","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:50:18.501238+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10528","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:49:48.211693+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10527","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC25A24: Rating: ; Mode of pathogenicity: None; Publications: 29100093, 29100094, 29100094, 31775791, 32732226, 32860237; Phenotypes: Fontaine progeroid syndrome, MIM#612289; Mode of inheritance: None; Current diagnostic: yes","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2022-01-06T15:33:51.870180+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.98","user_name":"Ain Roesley","item_type":"entity","text":"gene: WDFY3 was added\ngene: WDFY3 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDFY3 were set to 31327001\nPhenotypes for gene: WDFY3 were set to Neurodevelopmental disorder with macrocephaly\nPenetrance for gene: WDFY3 were set to unknown\nReview for gene: WDFY3 was set to AMBER\ngene: WDFY3 was marked as current diagnostic\nAdded comment: De novo (And 2x inherited from similarly affected parent) variants reported in individuals described to have macrocephaly, mostly PTCs and missense not in the PH domain (where microcephaly variants are reported) . \r\nBut OFC doesn't sound very macro  (5/9 >97th percentile and 4/9 between 87th and 95th percentiles).\r\n\r\nHet +/- mice displayed megalencephaly \nSources: Literature","entity_name":"WDFY3","entity_type":"gene"},{"created":"2022-01-06T15:33:01.038833+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.302","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GEMIN5 as Green List (high evidence)","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2022-01-06T15:33:01.027924+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.302","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gemin5 has been classified as Green List (High Evidence).","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2022-01-06T15:32:39.369238+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.301","user_name":"Chirag Patel","item_type":"entity","text":"gene: GEMIN5 was added\ngene: GEMIN5 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GEMIN5 were set to PMID: 34569062, 33963192\nPhenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333\nReview for gene: GEMIN5 was set to GREEN\nAdded comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. 30 individuals from 22 unrelated families reported by Kour et al (2021). \r\n\r\nSaida et al (2021) report compound heterozygous GEMIN5 variants in 2 individuals with cerebellar atrophy/hypoplasia. Three novel truncating variants and one previously reported missense variant were identified. Western blotting analysis using lymphoblastoid cell lines derived from both affected individuals showed significantly reduced levels of GEMIN5 protein. Zebrafish model for null variants p.(Arg733Thrfs*6) and p.(Ala1305Leufs*14) exhibited complete lethality at 2 weeks and recapitulated a distinct dysplastic phenotype. \nSources: Literature","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2022-01-06T15:32:01.971026+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.28","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GEMIN5 as Green List (high evidence)","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2022-01-06T15:32:01.961605+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.28","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gemin5 has been classified as Green List (High Evidence).","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2022-01-06T15:31:05.596923+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.27","user_name":"Chirag Patel","item_type":"entity","text":"gene: GEMIN5 was added\ngene: GEMIN5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GEMIN5 were set to PMID: 34569062, 33963192\nPhenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM #\t619333\nReview for gene: GEMIN5 was set to GREEN\nAdded comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. 30 individuals from 22 unrelated families reported by Kour et al (2021). \r\n\r\nSaida et al (2021) report compound heterozygous GEMIN5 variants in 2 individuals with cerebellar atrophy/hypoplasia. Three novel truncating variants and one previously reported missense variant were identified. Western blotting analysis using lymphoblastoid cell lines derived from both affected individuals showed significantly reduced levels of GEMIN5 protein. Zebrafish model for null variants p.(Arg733Thrfs*6) and p.(Ala1305Leufs*14) exhibited complete lethality at 2 weeks and recapitulated a distinct dysplastic phenotype. \nSources: Literature","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2022-01-06T15:15:45.523388+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1869","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC25A20: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SLC25A20","entity_type":"gene"},{"created":"2022-01-06T13:39:31.451096+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1869","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TRPV4 as ready","entity_name":"TRPV4","entity_type":"gene"},{"created":"2022-01-06T13:39:31.440108+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1869","user_name":"Alison Yeung","item_type":"entity","text":"Gene: trpv4 has been classified as Green List (High Evidence).","entity_name":"TRPV4","entity_type":"gene"},{"created":"2022-01-06T13:39:00.240139+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1869","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachyolmia type 3, MIM# 113500, Metatropic dysplasia, MIM# 156530, SED, Maroteaux type, MIM# 184095, Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TRPV4","entity_type":"gene"},{"created":"2022-01-06T13:31:44.144548+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1869","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TRPV6 as ready","entity_name":"TRPV6","entity_type":"gene"},{"created":"2022-01-06T13:31:44.135073+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1869","user_name":"Alison Yeung","item_type":"entity","text":"Gene: trpv6 has been classified as Green List (High Evidence).","entity_name":"TRPV6","entity_type":"gene"},{"created":"2022-01-06T13:30:51.227530+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1869","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: TRPV6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TRPV6","entity_type":"gene"},{"created":"2022-01-06T13:30:51.183646+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1869","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: TRPV6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TRPV6","entity_type":"gene"},{"created":"2022-01-06T13:30:08.849951+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32383311, 31930989, 29861107; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188, Early onset chronic pancreatitis susceptibility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TRPV6","entity_type":"gene"},{"created":"2022-01-06T13:26:15.716685+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TSC1 as ready","entity_name":"TSC1","entity_type":"gene"},{"created":"2022-01-06T13:26:15.701030+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tsc1 has been classified as Green List (High Evidence).","entity_name":"TSC1","entity_type":"gene"},{"created":"2022-01-06T13:25:50.175691+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TSC1","entity_type":"gene"},{"created":"2022-01-06T13:22:19.044665+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TSC2 as ready","entity_name":"TSC2","entity_type":"gene"},{"created":"2022-01-06T13:22:19.032415+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tsc2 has been classified as Green List (High Evidence).","entity_name":"TSC2","entity_type":"gene"},{"created":"2022-01-06T13:22:01.416829+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TSC2","entity_type":"gene"},{"created":"2022-01-06T13:20:11.971722+11:00","panel_name":"Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.43","user_name":"Alison Yeung","item_type":"entity","text":"commented on gene: TSC2","entity_name":"TSC2","entity_type":"gene"},{"created":"2022-01-06T13:11:49.975736+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TTC37 as ready","entity_name":"TTC37","entity_type":"gene"},{"created":"2022-01-06T13:11:49.966130+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ttc37 has been classified as Red List (Low Evidence).","entity_name":"TTC37","entity_type":"gene"},{"created":"2022-01-06T13:11:44.279044+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: TTC37 as Red List (low evidence)","entity_name":"TTC37","entity_type":"gene"},{"created":"2022-01-06T13:11:44.268247+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1868","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ttc37 has been classified as Red List (Low Evidence).","entity_name":"TTC37","entity_type":"gene"},{"created":"2022-01-06T13:11:24.760394+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1867","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TTC37","entity_type":"gene"},{"created":"2022-01-06T13:03:06.024844+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1867","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TTC7A as ready","entity_name":"TTC7A","entity_type":"gene"},{"created":"2022-01-06T13:03:06.008601+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1867","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ttc7a has been classified as Green List (High Evidence).","entity_name":"TTC7A","entity_type":"gene"},{"created":"2022-01-06T13:02:42.159772+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1867","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819, 24292712, 23830146, 29174094, 31743734; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TTC7A","entity_type":"gene"},{"created":"2022-01-06T12:50:29.495969+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.150","user_name":"Chris Richmond","item_type":"entity","text":"gene: SMAD6 was added\ngene: SMAD6 was added to Skeletal dysplasia. Sources: Expert Review\nMode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD6 were set to 31138930\nPhenotypes for gene: SMAD6 were set to 179300\nPenetrance for gene: SMAD6 were set to Incomplete\nReview for gene: SMAD6 was set to GREEN\ngene: SMAD6 was marked as current diagnostic\nAdded comment: Yang et al. (2019) performed exome sequencing on 117 patients with sporadic RUS and found significant enrichment for loss-of-function variants in the SMAD6 gene. Identified 22 SMAD6 rare variants (with a minor allele frequency of less than 0.0001) that occurred in 22 nonsyndromic RUS patients. Logistic regression showed that SMAD6 loss-of-function variants were significantly associated with increased risk of nonsyndromic RUS (OR 430; 95% CI 237.5-780.1; p less than 0.000001). Some inherited from unaffected parents. \nSources: Expert Review","entity_name":"SMAD6","entity_type":"gene"},{"created":"2022-01-06T12:06:50.083293+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1867","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TUBA1A as ready","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2022-01-06T12:06:50.066761+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1867","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tuba1a has been classified as Green List (High Evidence).","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2022-01-06T12:06:33.124480+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1867","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30517687, 20466733; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2022-01-06T11:59:08.097699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10527","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGEF10 were changed from  to Slowed nerve conduction velocity, MIM# 608236","entity_name":"ARHGEF10","entity_type":"gene"},{"created":"2022-01-06T11:59:04.572040+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1867","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: TUBA8 as Red List (low evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-01-06T11:59:04.558046+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1867","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-01-06T11:58:47.041319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10526","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARHGEF10 were set to ","entity_name":"ARHGEF10","entity_type":"gene"},{"created":"2022-01-06T11:58:17.261894+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10525","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ARHGEF10 was changed from  to Other","entity_name":"ARHGEF10","entity_type":"gene"},{"created":"2022-01-06T11:58:08.196378+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1866","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TUBA8 as ready","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-01-06T11:58:08.184935+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1866","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tuba8 has been classified as Green List (High Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-01-06T11:57:57.783353+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10524","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARHGEF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARHGEF10","entity_type":"gene"},{"created":"2022-01-06T11:57:39.874060+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10523","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARHGEF10: Changed rating: AMBER","entity_name":"ARHGEF10","entity_type":"gene"},{"created":"2022-01-06T11:57:30.849176+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1866","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 28388629; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-01-06T11:45:22.147725+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1866","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TUBB4A as ready","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T11:45:22.138169+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1866","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tubb4a has been classified as Green List (High Evidence).","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T11:45:03.655923+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1866","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27809427; Phenotypes: Leukodystrophy, hypomyelinating, 6, MIM# 602662; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2022-01-06T11:44:59.254076+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10523","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MBNL1 as ready","entity_name":"MBNL1","entity_type":"gene"},{"created":"2022-01-06T11:44:59.244105+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbnl1 has been classified as Red List (Low Evidence).","entity_name":"MBNL1","entity_type":"gene"},{"created":"2022-01-06T11:44:49.480342+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10523","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MBNL1 as Red List (low evidence)","entity_name":"MBNL1","entity_type":"gene"},{"created":"2022-01-06T11:44:49.470988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbnl1 has been classified as Red List (Low Evidence).","entity_name":"MBNL1","entity_type":"gene"},{"created":"2022-01-06T11:44:31.149694+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10522","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MBNL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MBNL1","entity_type":"gene"},{"created":"2022-01-06T11:28:01.272979+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1866","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TWIST1 as ready","entity_name":"TWIST1","entity_type":"gene"},{"created":"2022-01-06T11:28:01.261192+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1866","user_name":"Alison Yeung","item_type":"entity","text":"Gene: twist1 has been classified as Green List (High Evidence).","entity_name":"TWIST1","entity_type":"gene"}]}