{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1789","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1787","results":[{"created":"2020-05-25T16:25:53.997403+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRG1 were set to ","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-05-25T16:25:26.238129+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-05-25T16:23:22.553165+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.62","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SRD5A3 as ready","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-05-25T16:23:22.539096+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.62","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: srd5a3 has been classified as Green List (High Evidence).","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-05-25T16:23:17.267871+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.62","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SRD5A3 as Green List (high evidence)","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-05-25T16:23:17.254057+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.62","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: srd5a3 has been classified as Green List (High Evidence).","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-05-25T16:23:09.293824+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.61","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SRD5A3 was added\ngene: SRD5A3 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRD5A3 were set to 31638560\nPhenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq\tMIM#612379\nReview for gene: SRD5A3 was set to GREEN\nAdded comment: Retinopathy is a reported feature of the condition in >3 cases. \nSources: Expert list","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-05-25T16:14:36.086260+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCLT1 was added\ngene: SCLT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Literature\nMode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCLT1 were set to 30425282\nPhenotypes for gene: SCLT1 were set to Nonsyndromic retinitis pigmentosa\nReview for gene: SCLT1 was set to RED\nAdded comment: One family reported with nonsyndromic RP. \nSources: Literature","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-25T16:13:12.897515+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SCLT1 as ready","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-25T16:13:12.888435+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sclt1 has been classified as Green List (High Evidence).","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-25T16:13:00.600319+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SCLT1 as Green List (high evidence)","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-25T16:13:00.590789+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sclt1 has been classified as Green List (High Evidence).","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-25T16:12:57.023371+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-05-25T16:11:40.307770+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.59","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCLT1 was added\ngene: SCLT1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCLT1 were set to 32253632; 30425282\nPhenotypes for gene: SCLT1 were set to Bardet Biedl syndrome; Senior-Loken syndrome\nReview for gene: SCLT1 was set to GREEN\nAdded comment: Three unrelated cases reported with retinal dystrophy as a feature of the condition (2 with BBS and 1 with SLS). \nSources: Expert list","entity_name":"SCLT1","entity_type":"gene"},{"created":"2020-05-25T16:02:19.205508+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SCAPER as Red List (low evidence)","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T16:02:19.199447+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Gene is on the syndromic retinopathy panel","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T16:02:19.177698+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: scaper has been classified as Red List (Low Evidence).","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T16:01:49.458568+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SCAPER as Red List (low evidence)","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T16:01:49.446382+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: scaper has been classified as Red List (Low Evidence).","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T16:01:17.019949+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SCAPER: Rating: RED; Mode of pathogenicity: None; Publications: 30561111; Phenotypes: Nonsyndromic retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T15:57:10.339928+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.58","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T15:55:48.923578+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T15:55:01.433605+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SCAPER as ready","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T15:55:01.419449+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: scaper has been classified as Green List (High Evidence).","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T15:54:56.253063+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SCAPER as Green List (high evidence)","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T15:54:56.243300+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: scaper has been classified as Green List (High Evidence).","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T15:54:44.367736+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCAPER was added\ngene: SCAPER was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCAPER were set to 28794130\nPhenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa MIM#618195","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-05-25T15:40:33.704049+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.55","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PISD was added\ngene: PISD was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PISD were set to 31263216\nPhenotypes for gene: PISD were set to Liberfarb syndrome\tMIM#618889\nReview for gene: PISD was set to RED\nAdded comment: Retinal degeneration is reported in two families with the same homozygous variant and an apparently common ancestor, based on haplotype analysis. \nSources: Expert list","entity_name":"PISD","entity_type":"gene"},{"created":"2020-05-25T15:27:26.882206+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"gene: PIK3R1 was added\ngene: PIK3R1 was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PIK3R1 were set to PMID: 30018075; 31111319\nPhenotypes for gene: PIK3R1 were set to ?Agammaglobulinemia 7, autosomal recessive\t615214; Immunodeficiency 36\t616005; SHORT syndrome\t269880\nMode of pathogenicity for gene: PIK3R1 was set to Other\nReview for gene: PIK3R1 was set to AMBER\nAdded comment: PMID: 30018075/OMIM reports gain of function as a proven mechanism, where variants cause increased phosphorylation of a target protein AKT and hyperactivation of PI3K-dependent signaling pathway\r\n\r\nPMID: 31111319 - Review of >170 patients found where respiratory tract infections are a common feature\r\n\r\nNo other phenotypes reports reminiscent of PCD \nSources: Expert list","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2020-05-25T15:23:58.791874+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"gene: PIK3CD was added\ngene: PIK3CD was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PIK3CD were set to PMID: 30018075; 31111319\nPhenotypes for gene: PIK3CD were set to Immunodeficiency 14\t615513\nMode of pathogenicity for gene: PIK3CD was set to Other\nReview for gene: PIK3CD was set to AMBER\nAdded comment: PMID: 30018075/OMIM reports gain of function as a proven mechanism, where variants cause increased phosphorylation of a target protein AKT and hyperactivation of PI3K-dependent signaling pathway  \r\n\r\nPMID: 31111319 - Review of >170 patients found where respiratory tract infections are a common feature\r\n\r\nNo other phenotypes reports reminiscent of PCD \nSources: Expert list","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2020-05-25T15:18:02.919401+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2890","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23578821, 21204207, 21728810, 21539471; Phenotypes: Branchiooculofacial syndrome, MIM 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2020-05-25T15:01:23.459870+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2890","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17360648; Phenotypes: Ciliary dyskinesia, primary, 6 610852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NME8","entity_type":"gene"},{"created":"2020-05-25T15:00:46.066009+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.40","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17360648, 31966386; Phenotypes: Ciliary dyskinesia, primary, 6 610852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NME8","entity_type":"gene"},{"created":"2020-05-25T15:00:05.943771+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17360648; Phenotypes: Ciliary dyskinesia, primary, 6 610852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NME8","entity_type":"gene"},{"created":"2020-05-25T14:52:57.930404+10:00","panel_name":"Retinal Disorders","panel_id":3124,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Optic Atrophy; Syndromic Retinopathy; Autosomal Recessive/X-Linked Retinitis Pigmentosa; Bardet Biedl syndrome; Cone-rod Dystrophy; Macular Dystrophy/Stargardt Disease; Autosomal Dominant Retinitis Pigmentosa; Vitreoretinopathy; Achromatopsia; Usher Syndrome; Foveal Hypoplasia; Stickler Syndrome; Congenital Stationary Night Blindness","entity_name":null,"entity_type":null},{"created":"2020-05-25T14:43:21.133536+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"gene: NFKB2 was added\ngene: NFKB2 was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NFKB2 were set to PMID: 30941118\nPhenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10\t615577\nReview for gene: NFKB2 was set to AMBER\nAdded comment: PMID: 30941118 - reports 11 unrelated families (15 patients), four families carry the recurring nonsense p.Arg853* mutation. Many patients report recurrent upper and lower respiratory infections (>80%), less commonly bronchiectasis (57%)\r\n\r\nSummary: really doesnt seem like a PCD gene but some features are shared. \nSources: Expert list","entity_name":"NFKB2","entity_type":"gene"},{"created":"2020-05-25T14:20:58.288040+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"gene: NFKB1 was added\ngene: NFKB1 was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NFKB1 were set to PMID: 32278790\nPhenotypes for gene: NFKB1 were set to Immunodeficiency, common variable, 12\t616576\nReview for gene: NFKB1 was set to AMBER\nAdded comment: PMID: 32278790 - review of >150 patients with heterozygous mutations found ~25% had bronchiectasis, and 83% had upper respiratory infections. Incomplete penetrance (70%) with age dependent severity well reported.\r\n\r\nOMIM describes haploinsufficiency\r\n\r\nSummary: really doesnt seem like a PCD gene but some features are shared. \nSources: Expert list","entity_name":"NFKB1","entity_type":"gene"},{"created":"2020-05-25T13:14:29.395876+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.40","user_name":"Elena Savva","item_type":"entity","text":"Deleted their comment","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-05-25T13:14:20.462320+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.40","user_name":"Elena Savva","item_type":"entity","text":"edited their review of gene: FOXJ1: Added comment: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.\r\nElectron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity; Changed mode of pathogenicity: Other","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-05-25T13:13:57.518671+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.40","user_name":"Elena Savva","item_type":"entity","text":"gene: FOXJ1 was added\ngene: FOXJ1 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXJ1 were set to PMID 31630787\nPhenotypes for gene: FOXJ1 were set to Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry\nReview for gene: FOXJ1 was set to GREEN\nAdded comment: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.\r\nElectron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity \nSources: Literature","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-05-25T13:00:13.937205+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: DNAH8: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31178125, 24307375; Phenotypes: Asthenozoospermia, primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAH8","entity_type":"gene"},{"created":"2020-05-25T12:45:50.976710+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PEX26 as ready","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-05-25T12:45:50.963768+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pex26 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-05-25T12:45:45.414935+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PEX26 as Amber List (moderate evidence)","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-05-25T12:45:45.402656+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pex26 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-05-25T12:45:33.879887+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PEX26 was added\ngene: PEX26 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX26 were set to 28944237\nPhenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Peroxisome biogenesis disorder 7B MIM#614873\nReview for gene: PEX26 was set to AMBER\nAdded comment: Two cases reported with retinitis pigmentosa as a feature of the condition. \nSources: Expert list","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-05-25T12:21:22.506835+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARL3 as ready","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T12:21:22.496981+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl3 has been classified as Green List (High Evidence).","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T12:21:16.600600+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.40","user_name":"Elena Savva","item_type":"entity","text":"gene: DNAH6 was added\ngene: DNAH6 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH6 were set to PMID: 26918822\nPhenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia\nReview for gene: DNAH6 was set to AMBER\nAdded comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width.\r\nTwo patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.\r\n\r\nSummary: 1 convincing patient with animal model \nSources: Literature","entity_name":"DNAH6","entity_type":"gene"},{"created":"2020-05-25T12:19:00.062077+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"gene: DNAH6 was added\ngene: DNAH6 was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: DNAH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DNAH6 were set to PMID: 26918822; 28206990; 31676830; 29356036\nPhenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia\nReview for gene: DNAH6 was set to AMBER\nAdded comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width. \r\nTwo patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.\r\n\r\nPMID: 28206990 - 1 homozygous family (2 siblings) with azoospermia. Authors note no recurrent respiratory infections\r\n\r\nPMID: 31676830 -  2 chet unrelated families with spermatogenesis defects, and specifically noted to have no PCD manifestations. Phenotypes included sperm flagella defects. Patients carried missense and frameshift mutations.\r\n\r\nPMID: 29356036 - 1 chet patient (missense) with globozoospermia and acephalic spermatozoa. Functional analysis showed near null gene expression.\r\n\r\nSummary: Multiple patients + animal model with some features of PCD but nothing convincing \nSources: Expert list","entity_name":"DNAH6","entity_type":"gene"},{"created":"2020-05-25T12:14:40.185463+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:PHYH from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-25T12:10:09.818802+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:PEX7 from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-25T11:56:31.639621+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.7","user_name":"Tiong Tan","item_type":"entity","text":"Marked gene: BMPR1B as ready","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2020-05-25T11:56:31.629436+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.7","user_name":"Tiong Tan","item_type":"entity","text":"Gene: bmpr1b has been classified as Red List (Low Evidence).","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2020-05-25T11:55:56.030577+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.7","user_name":"Tiong Tan","item_type":"entity","text":"gene: BMPR1B was added\ngene: BMPR1B was added to Pierre Robin Sequence. Sources: Literature\nMode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMPR1B were set to 28418932\nPhenotypes for gene: BMPR1B were set to PRS; pectus excavatum; radioulnar synostosis\nPenetrance for gene: BMPR1B were set to unknown\nReview for gene: BMPR1B was set to AMBER\nAdded comment: Two unrelated families reported with lesions predicted to affect BMPR1B: translocation with deletion of two genes one of which was BMPR1B and a canonical splice site variant.  Both genomic lesions segregated with the PRS phenotype in both families. \nSources: Literature","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2020-05-25T11:51:23.205137+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"gene: CFTR was added\ngene: CFTR was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Disseminated bronchiectasis\nReview for gene: CFTR was set to GREEN\nAdded comment: CFTR-related disease features recurrent bronchial infection.\r\n\r\nGREEN \nSources: Expert list","entity_name":"CFTR","entity_type":"gene"},{"created":"2020-05-25T11:48:43.042790+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: P3H2 as Green List (high evidence)","entity_name":"P3H2","entity_type":"gene"},{"created":"2020-05-25T11:48:43.033860+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: p3h2 has been classified as Green List (High Evidence).","entity_name":"P3H2","entity_type":"gene"},{"created":"2020-05-25T11:48:32.645150+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"gene: P3H2 was added\ngene: P3H2 was added to Vitreoretinopathy. Sources: Expert list\nMode of inheritance for gene: P3H2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P3H2 were set to 21885030; 24172257; 25469533\nPhenotypes for gene: P3H2 were set to Myopia, high, with cataract and vitreoretinal degeneration MIM#614292\nReview for gene: P3H2 was set to GREEN\nAdded comment: At least 3 unrelated consanguineous families reported with vitreoretinal degeneration as a feature of the condition. \nSources: Expert list","entity_name":"P3H2","entity_type":"gene"},{"created":"2020-05-25T11:46:04.454720+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CFAP57: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21574244; Phenotypes: Van der Woude Syndrome, Primary ciliary dyskinesia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"CFAP57","entity_type":"gene"},{"created":"2020-05-25T11:39:34.482651+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MMACHC as ready","entity_name":"MMACHC","entity_type":"gene"},{"created":"2020-05-25T11:39:34.471608+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2020-05-25T11:39:30.107142+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MMACHC as Green List (high evidence)","entity_name":"MMACHC","entity_type":"gene"},{"created":"2020-05-25T11:39:30.094588+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2020-05-25T11:39:22.134466+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MMACHC was added\ngene: MMACHC was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to 28481040\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type\tMIM#277400\nReview for gene: MMACHC was set to GREEN\nAdded comment: Maculopathy/pigmentary retinopathy reported as a feature of the condition in at least 9 cases. \nSources: Expert list","entity_name":"MMACHC","entity_type":"gene"},{"created":"2020-05-25T11:32:26.783194+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.76","user_name":"Elena Savva","item_type":"entity","text":"gene: CFAP54 was added\ngene: CFAP54 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: CFAP54 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP54 were set to PMID: 26224312\nPhenotypes for gene: CFAP54 were set to Hydrocephalus, male infertility, mucus accumulation\nReview for gene: CFAP54 was set to RED\nAdded comment: PMID: 26224312: Homozygous mice have PCD characterized by hydrocephalus, male infertility (spermatogenesis defects in flagella maturation), and mucus accumulation. Brain analysis showed mild dilatation of the lateral ventricles. Tracheal cilia beat frequency was significantly reduced. The gene was highest expressed in the testis and lungs\r\n\r\nNo patients reported as of yet \nSources: Literature","entity_name":"CFAP54","entity_type":"gene"},{"created":"2020-05-25T11:26:21.453001+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MVK as Amber List (moderate evidence)","entity_name":"MVK","entity_type":"gene"},{"created":"2020-05-25T11:26:21.443852+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mvk has been classified as Amber List (Moderate Evidence).","entity_name":"MVK","entity_type":"gene"},{"created":"2020-05-25T11:26:11.551198+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24084495; Phenotypes: nonsyndromic retinitis pigmentosa; Mode of inheritance: None","entity_name":"MVK","entity_type":"gene"},{"created":"2020-05-25T11:19:36.468987+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LRP2 as ready","entity_name":"LRP2","entity_type":"gene"},{"created":"2020-05-25T11:19:36.454659+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lrp2 has been classified as Green List (High Evidence).","entity_name":"LRP2","entity_type":"gene"},{"created":"2020-05-25T11:19:33.641632+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LRP2 as Green List (high evidence)","entity_name":"LRP2","entity_type":"gene"},{"created":"2020-05-25T11:19:33.632747+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lrp2 has been classified as Green List (High Evidence).","entity_name":"LRP2","entity_type":"gene"},{"created":"2020-05-25T11:18:33.729216+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LRP2 was added\ngene: LRP2 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRP2 were set to 17632512\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome MIM#222448\nReview for gene: LRP2 was set to GREEN\nAdded comment: At least 3 families reported with retinopathy as a feature of the condition. \nSources: Expert list","entity_name":"LRP2","entity_type":"gene"},{"created":"2020-05-25T11:12:24.678577+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.40","user_name":"Elena Savva","item_type":"entity","text":"gene: CFAP53 was added\ngene: CFAP53 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP53 were set to PMID:28621423; 22577226; 26531781\nPhenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive 614779\nReview for gene: CFAP53 was set to GREEN\nAdded comment: aka CCDC11\r\n\r\nPMID: 22577226 - 2 siblings with a homozygous splice variant. One sibling had situs invertus syndrome and the other heterotaxy. One sibling far less severely affected. Patients had normal beating cilia, no respiratory issues\r\n\r\nPMID: 28621423 - no new patients, performs functional studies on patient cells from ^, and frog animal models. Assays demonstrate mislocalized protein, increased cilia length in patient samples, while animal models showed CFAP53/CCDC11 is important for left-right patterning.\r\n\r\nPMID: 26531781 - 1 patient with a homozygous PTC with situs inversus. Respiratory function was described as normal. Zebrafish model recapitulates the human phenotype.\r\n\r\nSummary: 2 patients described with situs invertus/heterotaxy + animal models \nSources: Literature","entity_name":"CFAP53","entity_type":"gene"},{"created":"2020-05-25T10:50:00.534908+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: KCNJ13 as ready","entity_name":"KCNJ13","entity_type":"gene"},{"created":"2020-05-25T10:50:00.523454+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kcnj13 has been classified as Green List (High Evidence).","entity_name":"KCNJ13","entity_type":"gene"},{"created":"2020-05-25T10:49:53.087940+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KCNJ13 as Green List (high evidence)","entity_name":"KCNJ13","entity_type":"gene"},{"created":"2020-05-25T10:49:53.075761+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kcnj13 has been classified as Green List (High Evidence).","entity_name":"KCNJ13","entity_type":"gene"},{"created":"2020-05-25T10:49:43.756529+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KCNJ13 was added\ngene: KCNJ13 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: KCNJ13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNJ13 were set to 25921210; 21763485\nPhenotypes for gene: KCNJ13 were set to Leber congenital amaurosis 16 MIM#614186\nReview for gene: KCNJ13 was set to GREEN\nAdded comment: At least 3 families reported with homozygous variants and shRNA lentiviral mouse assays that recapitulate LCA phenotype. \nSources: Expert list","entity_name":"KCNJ13","entity_type":"gene"},{"created":"2020-05-25T10:45:10.109900+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.48","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:KCNJ13 from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-25T10:35:35.797748+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.43","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:EXOSC2 from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-25T10:31:53.544372+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:COL9A1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-25T10:28:29.886715+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32441891, 30446867, 24154662; Phenotypes: nonsyndromic retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-05-25T10:18:23.170110+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:CEP78 from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-25T10:12:07.949847+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARL6 as Amber List (moderate evidence)","entity_name":"ARL6","entity_type":"gene"},{"created":"2020-05-25T10:12:07.939842+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arl6 has been classified as Amber List (Moderate Evidence).","entity_name":"ARL6","entity_type":"gene"},{"created":"2020-05-25T10:11:57.722217+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: None; Publications: 28130426, 19956407; Phenotypes: Retinitis pigmentosa 55 MIM#613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL6","entity_type":"gene"},{"created":"2020-05-25T10:02:03.324962+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.185","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARL3 as Green List (high evidence)","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T10:02:03.310338+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.185","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arl3 has been classified as Green List (High Evidence).","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:59:16.250973+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.184","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARL3 was added\ngene: ARL3 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL3 were set to 30269812; 16565502\nPhenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161\nReview for gene: ARL3 was set to GREEN\nAdded comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina. \nSources: Literature","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:56:08.252594+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARL3 as Green List (high evidence)","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:56:08.241180+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arl3 has been classified as Green List (High Evidence).","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:54:58.560755+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARL3 was added\ngene: ARL3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL3 were set to 30269812; 16565502\nPhenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161\nReview for gene: ARL3 was set to GREEN\nAdded comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina. \nSources: Literature","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:52:16.960933+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2890","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ARL3 as ready","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:52:16.947037+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2890","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arl3 has been classified as Green List (High Evidence).","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:52:08.028990+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2890","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARL3 as Green List (high evidence)","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:52:08.014929+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2890","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arl3 has been classified as Green List (High Evidence).","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:51:46.814615+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2889","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARL3 was added\ngene: ARL3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ARL3 were set to 30269812; 16565502; 26964041; 30932721\nPhenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161; Retinitis pigmentosa 83 MIM#618173\nReview for gene: ARL3 was set to GREEN\nAdded comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.\r\nTwo unrelated families with retinitis pigmentosa segregating the same heterozygous missense variant (Y90C). \nSources: Expert list","entity_name":"ARL3","entity_type":"gene"},{"created":"2020-05-25T09:47:28.818903+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ARL3 as ready","entity_name":"ARL3","entity_type":"gene"}]}