{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1121","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1119","results":[{"created":"2021-11-22T18:42:07.961358+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4301","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAF as ready","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:42:07.951356+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: maf has been classified as Green List (High Evidence).","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:42:03.903021+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4301","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAF were changed from  to Ayme-Gripp syndrome (MIM#601088)","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:41:36.769104+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4300","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAF were set to ","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:41:05.119031+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4299","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:40:30.316915+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4298","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 30160832, 34643041; Phenotypes: Ayme-Gripp syndrome (MIM#601088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:39:19.364295+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9829","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAF as ready","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:39:19.354062+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9829","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: maf has been classified as Green List (High Evidence).","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:39:10.538240+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9829","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAF were changed from  to Ayme-Gripp syndrome (MIM#601088)","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:30:31.726801+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9828","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAF were set to ","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:30:13.161323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9827","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-22T18:29:34.510985+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9826","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP4 as ready","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-22T18:29:34.500123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9826","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp4 has been classified as Green List (High Evidence).","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-22T18:29:27.216074+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9826","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP4 were changed from  to Cenani-Lenz syndactyly syndrome (MIM#212780); Myasthenic syndrome, congenital, 17, MIM# 616304; Sclerosteosis 2, MIM# 614305; Syndactyly","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-22T18:29:03.688388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9825","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRP4 were set to ","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-22T18:28:35.955068+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9824","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24234652, 26052878, 24200689, 21471202, 32286743, 28477420, 26751728, 29524275; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304, Sclerosteosis 2, MIM# 614305, Syndactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-22T18:11:54.815507+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.660","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924530; Phenotypes: Robinow syndrome, autosomal dominant 3 MIM#616894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"DVL3","entity_type":"gene"},{"created":"2021-11-22T17:59:55.998718+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9824","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-22T17:59:16.306574+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9823","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLC1 as ready","entity_name":"MLC1","entity_type":"gene"},{"created":"2021-11-22T17:59:16.295882+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9823","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlc1 has been classified as Green List (High Evidence).","entity_name":"MLC1","entity_type":"gene"},{"created":"2021-11-22T17:59:07.601628+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9823","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLC1 were changed from  to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)","entity_name":"MLC1","entity_type":"gene"},{"created":"2021-11-22T17:58:40.575871+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9822","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MLC1 were set to ","entity_name":"MLC1","entity_type":"gene"},{"created":"2021-11-22T17:58:19.576702+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9821","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLC1","entity_type":"gene"},{"created":"2021-11-22T17:57:24.217357+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9820","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMP13 as ready","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:57:24.207474+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp13 has been classified as Green List (High Evidence).","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:57:14.702398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9820","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMP13 were changed from  to Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400); ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111)","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:56:52.558609+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9819","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MMP13 were set to ","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:44:30.709144+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9818","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MBTPS2 as ready","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2021-11-22T17:44:30.689836+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9818","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbtps2 has been classified as Green List (High Evidence).","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2021-11-22T17:42:32.536426+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9818","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MBTPS2 were changed from  to Osteogenesis imperfecta, type XIX, (MIM301014); IFAP syndrome with or without BRESHECK syndrome (MIM#308205); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); Olmsted syndrome, X-linked (MIM#300918)","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2021-11-22T17:28:52.575837+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.151","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MATR3 as ready","entity_name":"MATR3","entity_type":"gene"},{"created":"2021-11-22T17:28:52.566528+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.151","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: matr3 has been classified as Amber List (Moderate Evidence).","entity_name":"MATR3","entity_type":"gene"},{"created":"2021-11-22T17:26:55.777778+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.151","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21 MIM#606070 to Amyotrophic lateral sclerosis 21 MIM#606070; frontotemporal dementia; multisystem proteinopathy","entity_name":"MATR3","entity_type":"gene"},{"created":"2021-11-22T17:24:41.272655+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.150","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MATR3 were set to ","entity_name":"MATR3","entity_type":"gene"},{"created":"2021-11-22T17:23:23.817986+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: MATR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MATR3","entity_type":"gene"},{"created":"2021-11-22T17:22:48.699043+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: MATR3: Changed phenotypes: Amyotrophic lateral sclerosis 21 MIM#606070, frontotemporal dementia, multisystem proteinopathy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MATR3","entity_type":"gene"},{"created":"2021-11-22T17:22:16.232037+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: One family with ALS-FTD has been reported so far. A rat primary neuron model showed neurons were bidirectionally vulnerable to MATR3 levels, with pathogenic MATR3 mutants displaying enhanced toxicity.; to: Two cases/families with ALS-FTD has been reported with missense variants. An early-onset bvFTD case has been reported with a MATR3 variant 5 retrotransposition of uncertain significance. A rat primary neuron model showed neurons were bidirectionally vulnerable to MATR3 levels, with pathogenic MATR3 mutants displaying enhanced toxicity.","entity_name":"MATR3","entity_type":"gene"},{"created":"2021-11-22T17:19:11.410679+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: MATR3: Changed publications: 24686783, 30015619, 28029397, 33408686; Changed phenotypes: Amyotrophic lateral sclerosis 21 MIM#606070, frontotemporal dementia","entity_name":"MATR3","entity_type":"gene"},{"created":"2021-11-22T17:17:19.890779+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.660","user_name":"Krithika Murali","item_type":"entity","text":"gene: EN1 was added\ngene: EN1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EN1 were set to 33568816\nPhenotypes for gene: EN1 were set to ?ENDOVE syndrome, limb-brain type - OMIM#619218\nReview for gene: EN1 was set to GREEN\nAdded comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.\r\n\r\nAn additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant. \nSources: Expert list, Literature","entity_name":"EN1","entity_type":"gene"},{"created":"2021-11-22T17:13:45.460265+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.660","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX2 as ready","entity_name":"PAX2","entity_type":"gene"},{"created":"2021-11-22T17:13:45.448628+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.660","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax2 has been classified as Green List (High Evidence).","entity_name":"PAX2","entity_type":"gene"},{"created":"2021-11-22T17:13:39.650641+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.660","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX2 were changed from RENAL-COLOBOMA SYNDROME to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352","entity_name":"PAX2","entity_type":"gene"},{"created":"2021-11-22T17:13:24.219183+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX2 were set to ","entity_name":"PAX2","entity_type":"gene"},{"created":"2021-11-22T17:13:12.589610+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.658","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX2","entity_type":"gene"},{"created":"2021-11-22T17:12:56.797836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PAX2: Added comment: Microphthalmia and CAKUT are reported features.; Changed rating: GREEN; Changed phenotypes: Papillorenal syndrome, MIM# 120330, Renal coloboma syndrome, MONDO:0007352","entity_name":"PAX2","entity_type":"gene"},{"created":"2021-11-22T17:12:03.294707+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"PAX2","entity_type":"gene"},{"created":"2021-11-22T17:10:19.803027+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARN as ready","entity_name":"PARN","entity_type":"gene"},{"created":"2021-11-22T17:10:19.790373+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parn has been classified as Green List (High Evidence).","entity_name":"PARN","entity_type":"gene"},{"created":"2021-11-22T17:10:09.366074+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PARN were changed from Dyskeratosis congenita, autosomal recessive 6 to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353","entity_name":"PARN","entity_type":"gene"},{"created":"2021-11-22T17:09:57.065696+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.656","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PARN were set to ","entity_name":"PARN","entity_type":"gene"},{"created":"2021-11-22T17:09:39.653640+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PARN: Changed phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PARN","entity_type":"gene"},{"created":"2021-11-22T17:09:11.716264+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"PARN","entity_type":"gene"},{"created":"2021-11-22T17:07:31.997393+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9817","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MBTPS2 were set to ","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2021-11-22T17:07:09.592632+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9816","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MBTPS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2021-11-22T17:06:25.821022+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9815","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IHH as ready","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-22T17:06:25.809444+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9815","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ihh has been classified as Green List (High Evidence).","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-22T17:06:20.137770+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9815","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: MMP13 was changed from  to Other","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:06:13.912508+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9814","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IHH were changed from  to Acrocapitofemoral dysplasia MIM#607778; Brachydactyly, type A1 MIM#112500","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-22T17:05:48.873881+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9813","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IHH were set to ","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-22T17:05:41.663408+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9812","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MMP13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:04:59.908288+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMP13 as ready","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:04:59.897972+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp13 has been classified as Green List (High Evidence).","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:04:54.773727+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMP13 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE; METAPHYSEAL ANADYSPLASIA TYPE 1 to Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400)","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:04:45.258103+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.654","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC30A5 was added\ngene: SLC30A5 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A5 were set to 33547425; 12095919\nPhenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy\nReview for gene: SLC30A5 was set to AMBER\nAdded comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia. \nSources: Expert list, Literature","entity_name":"SLC30A5","entity_type":"gene"},{"created":"2021-11-22T17:04:36.290889+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.654","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MMP13 were set to ","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:04:25.298400+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.653","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: MMP13 was changed from  to Other","entity_name":"MMP13","entity_type":"gene"},{"created":"2021-11-22T17:03:43.869752+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9811","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IHH was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-22T17:03:40.354049+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.652","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DVL1 as ready","entity_name":"DVL1","entity_type":"gene"},{"created":"2021-11-22T17:03:40.342428+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.652","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dvl1 has been classified as Green List (High Evidence).","entity_name":"DVL1","entity_type":"gene"},{"created":"2021-11-22T17:03:00.890102+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.652","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DVL1 were changed from AUTOSOMAL-DOMINANT ROBINOW SYNDROME to Robinow syndrome, autosomal dominant 2 (MIM#616331)","entity_name":"DVL1","entity_type":"gene"},{"created":"2021-11-22T17:02:48.506795+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.651","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DVL1 were set to ","entity_name":"DVL1","entity_type":"gene"},{"created":"2021-11-22T17:02:38.936481+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.650","user_name":"Krithika Murali","item_type":"entity","text":"gene: SCN5A was added\ngene: SCN5A was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN5A were set to 22064211; 15184283; 19419784\nPhenotypes for gene: SCN5A were set to Sudden infant death syndrome, susceptibility to - #272120; Long QT syndrome 3 - #603830\nReview for gene: SCN5A was set to GREEN\nAdded comment: Three families reported with severe perinatal presentation, including hydrops \nSources: Expert list, Literature","entity_name":"SCN5A","entity_type":"gene"},{"created":"2021-11-22T17:02:37.863251+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.650","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DVL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"DVL1","entity_type":"gene"},{"created":"2021-11-22T17:01:33.068761+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.649","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRIT1 as ready","entity_name":"KRIT1","entity_type":"gene"},{"created":"2021-11-22T17:01:33.058002+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.649","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krit1 has been classified as Amber List (Moderate Evidence).","entity_name":"KRIT1","entity_type":"gene"},{"created":"2021-11-22T17:01:28.320752+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.649","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 to Cavernous malformations of CNS and retina MIM#116860; Cerebral cavernous malformations-1 MIM#116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860","entity_name":"KRIT1","entity_type":"gene"},{"created":"2021-11-22T17:01:12.931690+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.648","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRIT1 were set to 28749478","entity_name":"KRIT1","entity_type":"gene"},{"created":"2021-11-22T17:00:58.640011+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.647","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRIT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRIT1","entity_type":"gene"},{"created":"2021-11-22T17:00:47.760560+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.646","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KRIT1 as Amber List (moderate evidence)","entity_name":"KRIT1","entity_type":"gene"},{"created":"2021-11-22T17:00:47.750119+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.646","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krit1 has been classified as Amber List (Moderate Evidence).","entity_name":"KRIT1","entity_type":"gene"},{"created":"2021-11-22T16:59:50.923832+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLF1 as ready","entity_name":"KLF1","entity_type":"gene"},{"created":"2021-11-22T16:59:50.913209+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klf1 has been classified as Green List (High Evidence).","entity_name":"KLF1","entity_type":"gene"},{"created":"2021-11-22T16:59:47.249002+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"KIF22","entity_type":"gene"},{"created":"2021-11-22T16:59:32.009221+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF22 as ready","entity_name":"KIF22","entity_type":"gene"},{"created":"2021-11-22T16:59:31.999636+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif22 has been classified as Green List (High Evidence).","entity_name":"KIF22","entity_type":"gene"},{"created":"2021-11-22T16:59:28.356565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLF1 were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis to Dyserythropoietic anaemia, congenital, type IV MIM#613673","entity_name":"KLF1","entity_type":"gene"},{"created":"2021-11-22T16:58:58.697918+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.644","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF22 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546","entity_name":"KIF22","entity_type":"gene"},{"created":"2021-11-22T16:58:54.426475+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.643","user_name":"Krithika Murali","item_type":"entity","text":"gene: PRF1 was added\ngene: PRF1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRF1 were set to 19595804; 26199792; 30070073\nPhenotypes for gene: PRF1 were set to Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553\nReview for gene: PRF1 was set to GREEN\nAdded comment: Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed)\r\nPMID: 19595804\r\n\r\nVermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period\r\nPMID: 26199792\r\n\r\nIwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites\r\nPMID: 30070073 \nSources: Expert list, Literature","entity_name":"PRF1","entity_type":"gene"},{"created":"2021-11-22T16:58:29.420488+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.643","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF22 were set to ","entity_name":"KIF22","entity_type":"gene"},{"created":"2021-11-22T16:58:18.354386+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.642","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLF1","entity_type":"gene"},{"created":"2021-11-22T16:57:18.819482+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9810","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCTD1 as ready","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:57:18.810819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9810","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kctd1 has been classified as Green List (High Evidence).","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:57:16.569775+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.641","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KIF22 was changed from  to Other","entity_name":"KIF22","entity_type":"gene"},{"created":"2021-11-22T16:55:50.668035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9810","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCTD1 were changed from  to Scalp-ear-nipple syndrome MIM#181270","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:55:33.789114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMADHC as ready","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-11-22T16:55:33.779745+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmadhc has been classified as Red List (Low Evidence).","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-11-22T16:55:29.752215+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMADHC were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD to Methylmalonic aciduria, cblD type, variant 2 (MIM#277410), Methylmalonic aciduria and homocystinuria, cblD type (MIM#277410), Methylmalonic aciduria, cblD type, variant 2 (MIM#277410)","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-11-22T16:55:17.450311+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MMADHC were set to ","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-11-22T16:55:07.769394+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9809","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCTD1 were set to ","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:54:56.249342+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.638","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MMADHC as Red List (low evidence)","entity_name":"MMADHC","entity_type":"gene"}]}