{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=412","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=410","results":[{"created":"2024-08-06T16:17:47.463888+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.77","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CLDN1 were set to ","entity_name":"CLDN1","entity_type":"gene"},{"created":"2024-08-06T16:13:21.835071+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lilian Downie","item_type":"entity","text":"Tag for review tag was added to gene: CLCNKB.","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2024-08-06T15:34:43.213928+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Kate Scarff","item_type":"entity","text":"reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18548531; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BUB1B","entity_type":"gene"},{"created":"2024-08-06T15:10:00.374521+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CLCNKB as ready","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2024-08-06T15:10:00.363993+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: The digenic inheritance is not clearly proven, patients with variants in both genes also had biallelic variants in this gene which is just as likely to have been the cause. Not enough evidence to report in carrier screening as a digenic condition. PMID: 18310267","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2024-08-06T15:10:00.318887+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lilian Downie","item_type":"entity","text":"Gene: clcnkb has been classified as Green List (High Evidence).","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2024-08-06T10:23:10.176578+10:00","panel_name":"Spontaneous coronary artery dissection","panel_id":4323,"panel_version":"0.32","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nbut AMBER rating\r\n10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with sporadic SCAD from whom parental DNA was available. No functional assays were conducted. \nSources: Literature; to: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nbut AMBER rating\r\n10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with unaffected heterozygous parents. No functional assays were conducted. \r\nSources: Literature","entity_name":"TLN1","entity_type":"gene"},{"created":"2024-08-05T15:05:02.778419+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: ARV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35227294, 27270415, 25558065, 34017911, 34296759; Phenotypes: Developmental and epileptic encephalopathy 38 MIM#617020 MONDO:0014868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARV1","entity_type":"gene"},{"created":"2024-08-05T14:42:55.710000+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31765523, 23849778; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451 primary ciliary dyskinesia 23 MONDO:0014193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARMC4","entity_type":"gene"},{"created":"2024-08-05T14:11:34.716967+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27362913, 16450403, 30350008, 26179960, 20301531, 25231368, 35646099; Phenotypes: Nonketotic Hyperglycinemia, Glycine encephalopathy MIM#620398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMT","entity_type":"gene"},{"created":"2024-08-05T13:53:55.680422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1944","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EMILIN1 were changed from Neuronopathy, distal hereditary motor, type X, MIM# 620080; Aortic aneurysm, MONDO:0005160, EMILIN2-related to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Arterial tortuosity-bone fragility syndrome, MIM#\t620908","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2024-08-05T13:53:25.076602+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EMILIN1 were changed from Neuronopathy, distal hereditary motor, type X, MIM# 620080 Aortic aneurysm, MONDO:0005160, EMILIN2-related to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Arterial tortuosity-bone fragility syndrome, MIM#\t620908","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2024-08-05T13:52:39.974938+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EMILIN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2024-08-05T13:52:23.220508+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EMILIN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, Arterial tortuosity-bone fragility syndrome, MIM# 620908","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2024-08-05T10:28:34.615044+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.53","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ACOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27647924, 27884763, 35395098; Phenotypes: congenital bile acid synthesis defect 6 MONDO:0015015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACOX2","entity_type":"gene"},{"created":"2024-08-05T10:27:21.214340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1943","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ACOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27647924, 27884763, 35395098; Phenotypes: congenital bile acid synthesis defect 6 MONDO:0015015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACOX2","entity_type":"gene"},{"created":"2024-08-05T10:14:36.057935+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.128","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: GLS: Added comment: Classified as Moderate by ClinGen Aminoacidopathy GCEP on 26/07/2024 - https://search.clinicalgenome.org/CCID:004966\r\n\r\nTwo unrelated probands have been reported with an increased glutamate production level. Two missense variants have been reported (Ser482Cys and His461Leu - both absent from gnomAD v4.1). A zebrafish model partially recapitulated the disease.; Changed rating: AMBER; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 30239721, 37151363; Changed phenotypes: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLS","entity_type":"gene"},{"created":"2024-08-05T09:43:46.290507+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1943","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PRPF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24419317; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: None","entity_name":"PRPF4","entity_type":"gene"},{"created":"2024-08-02T22:08:48.895593+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514 16705068 18182448 28425981; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete MIM#613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2024-08-02T21:40:17.441924+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: CNNM4: Rating: ; Mode of pathogenicity: None; Publications: 30705057 29421294 19200527 19200525; Phenotypes: Jalili syndrome MIM#217080; Mode of inheritance: None","entity_name":"CNNM4","entity_type":"gene"},{"created":"2024-08-02T21:18:19.936812+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047 28795510 12140185 28795510; Phenotypes: Achromatopsia 3 MIM#262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNGB3","entity_type":"gene"},{"created":"2024-08-02T20:55:41.037393+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809 24766810 23474986 29307788; Phenotypes: Pontocerebellar hypoplasia, type 10 MIM#615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLP1","entity_type":"gene"},{"created":"2024-08-02T17:29:17.281020+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6099","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HDAC3 as ready","entity_name":"HDAC3","entity_type":"gene"},{"created":"2024-08-02T17:29:17.267475+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6099","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac3 has been classified as Green List (High Evidence).","entity_name":"HDAC3","entity_type":"gene"},{"created":"2024-08-02T17:20:58.884909+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANGPT2 as ready","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2024-08-02T17:20:58.870690+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: angpt2 has been classified as Green List (High Evidence).","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2024-08-02T17:20:53.677769+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANGPT2 as Green List (high evidence)","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2024-08-02T17:20:53.664616+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: angpt2 has been classified as Green List (High Evidence).","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2024-08-02T17:19:57.584726+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANGPT2 was added\ngene: ANGPT2 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ANGPT2 were set to 32908006; 34876502\nPhenotypes for gene: ANGPT2 were set to Lymphatic malformation-10, MIM#619369; Primary lymphoedema Hydrops\nReview for gene: ANGPT2 was set to GREEN\nAdded comment: Mono-allelic disease: association with lymphoedema in 5 unrelated individuals PMID 32908006\r\n\r\nBi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents. \nSources: Expert list","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2024-08-02T17:17:53.843743+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1943","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FZD6 were changed from Nail disorder, nonsyndromic congenital, 1, MIM# 161050 to Nail disorder, nonsyndromic congenital, 1, MIM# 161050; Hydrops fetalis, MONDO:0015193, FZD6-related","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:17:31.735833+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1942","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FZD6 were set to 21665003; 23374899","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:17:09.056850+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1941","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMIDs 33082562; 26036949; 28425981. Three FZD6 variants have been associated with two unrelated cases of fetal hyrdrops.; to: PMIDs 33082562; 26036949; 28425981. Three FZD6 variants have been associated with two unrelated cases of fetal hyrdrops. AMBER for this indication.","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:16:51.840724+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1941","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FZD6: Changed phenotypes: Nail disorder, nonsyndromic congenital, 1, MIM# 161050, Hydrops fetalis, MONDO:0015193, FZD6-related","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:13:37.072720+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1941","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FZD6: Added comment: PMIDs 33082562; 26036949; 28425981. Three FZD6 variants have been associated with two unrelated cases of fetal hyrdrops.; Changed publications: 21665003, 23374899, 33082562, 26036949, 28425981","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:13:24.512528+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FZD6 as ready","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:13:24.499046+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd6 has been classified as Amber List (Moderate Evidence).","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:12:09.095385+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.263","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FZD6 as ready","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:12:09.077268+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.263","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd6 has been classified as Amber List (Moderate Evidence).","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:12:03.987017+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.263","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FZD6 as Amber List (moderate evidence)","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:12:03.971830+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.263","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd6 has been classified as Amber List (Moderate Evidence).","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:11:49.111963+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.262","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FZD6 was added\ngene: FZD6 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FZD6 were set to 33082562; 26036949; 28425981\nPhenotypes for gene: FZD6 were set to Hydrops fetalis, MONDO:0015193, FZD6-related\nReview for gene: FZD6 was set to AMBER\nAdded comment: Three FZD6 variants have been associated with two unrelated cases of fetal hyrdrops. \nSources: Expert list","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:11:43.492512+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FZD6 as Amber List (moderate evidence)","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:11:43.480546+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd6 has been classified as Amber List (Moderate Evidence).","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:10:46.082020+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.314","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FZD6 was added\ngene: FZD6 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FZD6 were set to 33082562; 26036949; 28425981\nPhenotypes for gene: FZD6 were set to Hydrops fetalis, MONDO:0015193, FZD6-related\nReview for gene: FZD6 was set to AMBER\nAdded comment: Three FZD6 variants have been associated with two unrelated cases of fetal hyrdrops \nSources: Literature","entity_name":"FZD6","entity_type":"gene"},{"created":"2024-08-02T17:10:27.836255+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6099","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: SOX9: Rating: RED; Mode of pathogenicity: None; Publications: 20301724, 26663529; Phenotypes: campomelic dysplasia MONDO:0007251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"SOX9","entity_type":"gene"},{"created":"2024-08-02T17:05:01.817046+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.261","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D7 as Amber List (moderate evidence)","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:05:01.797086+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.261","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:04:47.025738+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.260","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D7 were set to 23687350; 24515783","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:04:31.386706+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.259","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D7 as Green List (high evidence)","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:04:31.373679+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.259","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d7 has been classified as Green List (High Evidence).","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:04:15.237963+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.258","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBC1D7: Rating: GREEN; Mode of pathogenicity: None; Publications: 36669495; Phenotypes: Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:03:37.306901+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D7 were set to 24515783; 23687350; 36669495","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:03:15.431527+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D7 were set to 24515783; 23687350","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:03:07.443203+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6099","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D7 were set to 24515783; 23687350","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:01:07.871444+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6098","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D7 as Green List (high evidence)","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:01:07.854676+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6098","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d7 has been classified as Green List (High Evidence).","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:00:34.637754+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6097","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D7: Added comment: PMID: 36669495 reports additional individuals with compound het variants identified via trio RNASeq.; Changed rating: GREEN; Changed publications: 24515783, 23687350, 36669495","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:00:29.774874+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D7 as Green List (high evidence)","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T17:00:29.754388+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d7 has been classified as Green List (High Evidence).","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T16:59:54.512283+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D7: Added comment: PMID: 36669495 reports additional individuals with compound het variants identified via trio RNASeq.; Changed rating: GREEN; Changed publications: 24515783, 23687350, 36669495","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T16:59:24.962638+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1941","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D7 were set to 24515783; 23687350","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T16:59:03.889390+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1940","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D7 as Green List (high evidence)","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T16:59:03.874307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d7 has been classified as Green List (High Evidence).","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T16:57:51.756847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1939","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D7: Changed rating: GREEN","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T16:57:40.214742+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1939","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D7: Added comment: PMID: 36669495 reports additional individuals with compound het variants identified via trio RNASeq.; Changed publications: 24515783, 23687350, 36669495","entity_name":"TBC1D7","entity_type":"gene"},{"created":"2024-08-02T16:52:23.308647+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.258","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLIS2 as Green List (high evidence)","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:52:23.296192+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glis2 has been classified as Green List (High Evidence).","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:52:09.892508+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.257","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLIS2: Added comment: Five individuals from three unrelated families reported, albeit with homozygous variants. Functional data.; Changed rating: GREEN; Changed publications: 31676329, 17618285, 23559409","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:51:21.176213+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLIS2 as Green List (high evidence)","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:51:21.161737+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glis2 has been classified as Green List (High Evidence).","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:50:48.148606+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported.; to: Three families (5 individuals) reported, albeit with homozygous variants. Functional data.","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:50:26.453249+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLIS2: Changed rating: GREEN","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:49:49.155001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1939","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLIS2 as Green List (high evidence)","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:49:49.141962+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1939","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glis2 has been classified as Green List (High Evidence).","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:49:29.735422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1938","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported.; to: Three families (5 individuals) reported. Functional data.","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:49:10.902569+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1938","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLIS2: Changed rating: GREEN","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:49:05.618347+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLIS2 as Green List (high evidence)","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:49:05.602653+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glis2 has been classified as Green List (High Evidence).","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:48:33.725125+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Good functional data, but limited reports in humans.; to: Good functional data. Three unrelated families reported (5 individuals) but note all had homozygous variants.","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:47:46.260961+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLIS2: Changed rating: GREEN","entity_name":"GLIS2","entity_type":"gene"},{"created":"2024-08-02T16:45:11.205663+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.557","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LNPK as ready","entity_name":"LNPK","entity_type":"gene"},{"created":"2024-08-02T16:45:11.189612+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.557","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lnpk has been classified as Green List (High Evidence).","entity_name":"LNPK","entity_type":"gene"},{"created":"2024-08-02T16:45:04.731340+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.557","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LNPK as Green List (high evidence)","entity_name":"LNPK","entity_type":"gene"},{"created":"2024-08-02T16:45:04.716935+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.557","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lnpk has been classified as Green List (High Evidence).","entity_name":"LNPK","entity_type":"gene"},{"created":"2024-08-02T16:43:20.686322+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6097","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MSL2 as Green List (high evidence)","entity_name":"MSL2","entity_type":"gene"},{"created":"2024-08-02T16:43:20.673697+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6097","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msl2 has been classified as Green List (High Evidence).","entity_name":"MSL2","entity_type":"gene"},{"created":"2024-08-02T16:37:57.005007+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1938","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C17orf53 were changed from Primary ovarian insufficiency to Ovarian dysgenesis 11, MIM# 620897","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:37:32.648338+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1937","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C17orf53 as Green List (high evidence)","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:37:32.634984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1937","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf53 has been classified as Green List (High Evidence).","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:37:13.945656+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1936","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: C17orf53: Added comment: PMID 38105698: Additional family reported with two sibs and compound het LoF variants.\r\n\r\nHGNC approved name is HROB.; Changed rating: GREEN; Changed publications: 34707299, 31467087, 38105698; Changed phenotypes: Ovarian dysgenesis 11, MIM# 620897","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:35:49.243935+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C17orf53 as ready","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:35:49.236896+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name is HROB.","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:35:49.205050+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf53 has been classified as Green List (High Evidence).","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:35:35.550693+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C17orf53.","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:35:24.493721+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C17orf53 were changed from Primary ovarian insufficiency to Ovarian dysgenesis 11, MIM# 620897","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:35:14.904495+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.332","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C17orf53 were set to PMID: 34707299; PMID: 31467087","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:34:58.927684+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C17orf53 as Green List (high evidence)","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:34:58.896874+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf53 has been classified as Green List (High Evidence).","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:34:49.726758+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C17orf53: Rating: GREEN; Mode of pathogenicity: None; Publications: 38105698; Phenotypes: Ovarian dysgenesis 11, MIM# 620897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C17orf53","entity_type":"gene"},{"created":"2024-08-02T16:32:37.588959+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1936","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD274 as ready","entity_name":"CD274","entity_type":"gene"}]}