{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=807","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=805","results":[{"created":"2022-06-15T22:28:08.038618+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM13 were changed from Chorioretinal atrophy, progressive bifocal, MIM# 600790; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 to Chorioretinal atrophy, progressive bifocal, MIM# 600790; Pontocerebellar hypoplasia, type 17, MIM# 619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-15T22:27:52.557408+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM13 were set to 30710461; 34730112; 35390279","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-15T22:27:28.286080+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRDM13: Added comment: Note only single family reported with  Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976 -- this likely lies on the same spectrum as Pontocerebellar hypoplasia, type 17, MIM# 619909 rather than being a distinct disorder.; Changed publications: 30710461, 34730112; Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790, Pontocerebellar hypoplasia, type 17, MIM# 619909, Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-15T22:26:33.269369+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM13 were set to PMID: 35390279","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-15T22:25:36.726219+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM13 were changed from Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 to Pontocerebellar hypoplasia, type 17, MIM# 619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-15T22:25:03.496825+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRDM13: Added comment: Note only single family reported with MIM#619761. The two disorders likely represent a continuum of severity.; Changed publications: 34730112; Changed phenotypes: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761, Pontocerebellar hypoplasia, type 17, MIM# 619909","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-15T22:22:46.714287+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4823","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIAM1 were changed from Neurodevelopmental disorder, TIAM1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and seizures, MIM# 619908","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-06-15T22:22:06.277155+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIAM1 were changed from Neurodevelopmental disorder, TIAM1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and seizures, MIM# 619908","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-06-15T22:21:11.053228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIAM1 were changed from Neurodevelopmental disorder, TIAM1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and seizures, MIM#\t619908","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-06-15T15:07:30.299872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.65","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).\r\n\r\n- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.\r\n- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.\r\n\r\n- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.\r\n\r\n- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.; to: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (1x nonsense, 1x frameshift, 1x canonical splice variants). All 3 probands have hypoplastic left heart syndrome (HLHS) and no extra-cardiac features. Same cohort later included in PMID: 32368696, listed one additional de novo variant in this gene (missense variant) in a patient with conotruncal defects (CTDs).\r\n\r\n- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.\r\n- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.\r\n\r\n- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.\r\n\r\n- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2022-06-10T17:54:31.415351+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.27","user_name":"Nicola Fearn","item_type":"entity","text":"reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27794444, PMID 25719457, OMIM 120130; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL4A1","entity_type":"gene"},{"created":"2022-06-09T15:26:45.814907+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1620","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLG4 as ready","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-06-09T15:26:45.805384+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1620","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlg4 has been classified as Green List (High Evidence).","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-06-09T15:26:38.498180+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1620","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DLG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-06-09T15:25:57.726277+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1619","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLG4 as Green List (high evidence)","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-06-09T15:25:57.717262+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1619","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlg4 has been classified as Green List (High Evidence).","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-06-08T10:54:22.352464+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: 16199541, 28805479; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SEMA4A","entity_type":"gene"},{"created":"2022-06-08T10:48:24.010720+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: Amber in Mendeliome. Insufficient evidence for inclusion. \r\n\r\nThere is only one family reported with convincing evidence for gene-disease association, and we have downgraded this gene on other panels.; to: Amber in Mendeliome. Insufficient evidence for inclusion. \r\n\r\nThere is only one family reported with convincing evidence for gene-disease association, and we have downgraded this gene on other panels.","entity_name":"SEC23A","entity_type":"gene"},{"created":"2022-06-08T10:48:15.152062+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SEC23A: Rating: ; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: None","entity_name":"SEC23A","entity_type":"gene"},{"created":"2022-06-08T10:41:15.441811+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-06-08T10:38:10.056753+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Intellectual developmental disorder, X-linked (MIM#300495); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2022-06-08T10:20:40.739555+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-06-08T10:15:52.510657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.65","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: CSNK2B were changed from Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732; Craniodigital syndrome-intellectual disability syndrome MONDO:0015463","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-06-08T10:14:41.503794+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.64","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CSNK2B were set to 28585349; 28762608","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-06-08T10:12:15.805926+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM# 609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM4","entity_type":"gene"},{"created":"2022-06-08T10:06:01.192324+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase-B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LDHB","entity_type":"gene"},{"created":"2022-06-08T10:03:04.848593+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: 34519236, 31730227, 32429784; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosiS, MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-06-08T09:50:18.645041+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: EMG1: Rating: RED; Mode of pathogenicity: None; Publications: 19463982; Phenotypes: Bowen-Conradi syndrome MIM #2111180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EMG1","entity_type":"gene"},{"created":"2022-06-08T09:45:56.264040+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: 28157540, 23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DSTYK","entity_type":"gene"},{"created":"2022-06-08T09:36:01.388774+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23404334, 24461433, 12684507; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: None","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-06-08T08:50:41.782952+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.63","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35571680; Phenotypes: Craniodigital syndrome-intellectual disability syndrome MONDO:0015463; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CSNK2B","entity_type":"gene"},{"created":"2022-06-07T15:36:33.452413+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1618","user_name":"Lucy Spencer","item_type":"entity","text":"gene: DLG4 was added\ngene: DLG4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DLG4 were set to 33597769\nPhenotypes for gene: DLG4 were set to Intellectual developmental disorder, autosomal dominant 62 MIM#618793\nReview for gene: DLG4 was set to GREEN\nAdded comment: PMID: 33597769- A cohort of 53 individuals with DLG4 variants 24 of whom had epilepsy or some form of seizures including focal or febrile seizures along with ID and other features. \nSources: Literature","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-06-07T15:17:06.569004+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC5A6 were changed from Neurodegeneration, infantile-onset, biotin-responsive, MIM#\t618973 to Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-06-07T15:16:43.957812+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC5A6: Changed phenotypes: Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-06-07T12:51:45.746907+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM#\t618973 to Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-06-07T12:50:44.889614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC5A6 were set to 31754459; 27904971","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-06-07T12:50:23.164253+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two unrelated families reported, functional data and some evidence of response to treatment. \nSources: Literature; to: Complex neurodegenerative disorder: Two unrelated families reported, functional data and some evidence of response to treatment. \r\nSources: Literature","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-06-07T12:50:00.976265+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC5A6: Added comment: PMID 35013551: 5 individuals from 3 unrelated families reported with predominantly neuropathy phenotype.; Changed publications: 31754459, 27904971, 35013551; Changed phenotypes: Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903, Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-06-06T12:03:25.920981+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DNMT3B as ready","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-06-06T12:03:25.906851+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dnmt3b has been classified as Amber List (Moderate Evidence).","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-06-06T12:03:23.056781+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DNMT3B as Amber List (moderate evidence)","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-06-06T12:03:23.044889+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dnmt3b has been classified as Amber List (Moderate Evidence).","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-06-06T12:01:37.849571+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNMT3B was added\ngene: DNMT3B was added to Limb Girdle Muscular Dystrophy. Sources: Literature\nMode of inheritance for gene: DNMT3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNMT3B were set to 27153398; 33004076\nPhenotypes for gene: DNMT3B were set to Facioscapulohumeral muscular dystrophy MONDO:0001347\nReview for gene: DNMT3B was set to AMBER\nAdded comment: FSHD shares some features with LGMD.\r\nTwo families reported with FSHD2. In one family carriers of the heterozygous DNMT3B missense variant (c.1579T>C) had reduced DNA methylation levels at the D4Z4 repeat array and were more likely to develop FSHD in comparison to other family members carrying an identical permissive 4qA allele of 9 D4Z4 units. In the other family, digenic inheritance of a heterozygous DNMT3B missense variant (c.2072C>T) and a permissive 4qA allele of 13 D4Z4 units induced hypomethylation at the D4Z4 repeat array but only one of the two family members was diagnosed with FSHD. A mouse model with an in-frame deletion (similar to the reported missense variants) does not induce a skeletal muscle pathology nor does it increase the extremely low DUX4 transcript levels in skeletal muscles of a FSHD transgenic mouse. The mouse model also suggested that Smchd1 may have a more potent role in DUX4 derepression than Dnmt3b. \nSources: Literature","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-06-06T11:59:42.077402+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LRIF1 as ready","entity_name":"LRIF1","entity_type":"gene"},{"created":"2022-06-06T11:59:42.068382+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lrif1 has been classified as Amber List (Moderate Evidence).","entity_name":"LRIF1","entity_type":"gene"},{"created":"2022-06-06T11:59:28.434230+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LRIF1 as Amber List (moderate evidence)","entity_name":"LRIF1","entity_type":"gene"},{"created":"2022-06-06T11:59:28.424588+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lrif1 has been classified as Amber List (Moderate Evidence).","entity_name":"LRIF1","entity_type":"gene"},{"created":"2022-06-06T11:58:51.627982+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LRIF1 was added\ngene: LRIF1 was added to Limb Girdle Muscular Dystrophy. Sources: Literature\nMode of inheritance for gene: LRIF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRIF1 were set to 32467133\nPhenotypes for gene: LRIF1 were set to Facioscapulohumeral muscular dystrophy MONDO:0001347\nReview for gene: LRIF1 was set to AMBER\nAdded comment: FSHD shares some similar features with LGMD.\r\nA single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus. \nSources: Literature","entity_name":"LRIF1","entity_type":"gene"},{"created":"2022-06-06T11:49:45.400009+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SMCHD1 as ready","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2022-06-06T11:49:45.385623+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: smchd1 has been classified as Green List (High Evidence).","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2022-06-06T11:49:31.336276+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SMCHD1 as Green List (high evidence)","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2022-06-06T11:49:31.323254+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: smchd1 has been classified as Green List (High Evidence).","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2022-06-06T11:48:03.214680+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.64","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMCHD1 was added\ngene: SMCHD1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list\nMode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMCHD1 were set to 20301616\nPhenotypes for gene: SMCHD1 were set to Facioscapulohumeral muscular dystrophy MONDO:0001347\nReview for gene: SMCHD1 was set to GREEN\ngene: SMCHD1 was marked as current diagnostic\nAdded comment: FSHD can have overlapping features with LGMD \nSources: Expert list","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2022-06-06T11:23:07.102365+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Crystle Lee","item_type":"entity","text":"gene: PIBF1 was added\ngene: PIBF1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIBF1 were set to 26167768; 30858804; 29695797; 33004012\nPhenotypes for gene: PIBF1 were set to Joubert syndrome 33 (MIM#617767)\nReview for gene: PIBF1 was set to AMBER\nAdded comment: Green gene to be considered for inclusion\r\n\r\nThree unrelated families plus three Hutterite families reported with bi-allelic variants in this gene. \nSources: Literature","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-06-05T10:54:48.979834+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAG1 as ready","entity_name":"DAG1","entity_type":"gene"},{"created":"2022-06-05T10:54:48.967102+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dag1 has been classified as Green List (High Evidence).","entity_name":"DAG1","entity_type":"gene"},{"created":"2022-06-05T10:54:44.647895+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DAG1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia","entity_name":"DAG1","entity_type":"gene"},{"created":"2022-06-05T10:54:12.833897+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DAG1 were set to ","entity_name":"DAG1","entity_type":"gene"},{"created":"2022-06-05T10:53:35.464757+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DAG1","entity_type":"gene"},{"created":"2022-06-02T19:55:18.590925+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.832","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RMND1 as ready","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T19:55:18.582312+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.832","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmnd1 has been classified as Green List (High Evidence).","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T19:54:57.662370+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.832","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RMND1 were changed from  to Combined oxidative phosphorylation deficiency 11 MIM#614922","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T19:48:29.368466+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.831","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RMND1 were set to ","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T19:44:27.378006+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.830","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T19:43:05.837748+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1618","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RMND1 as ready","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T19:43:05.828382+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1618","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmnd1 has been classified as Green List (High Evidence).","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T19:42:53.466335+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1618","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RMND1 were changed from  to Combined oxidative phosphorylation deficiency 11 MIM#614922","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T19:42:20.253502+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1617","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RMND1 were set to ","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T19:41:39.531907+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1616","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T16:02:53.427912+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL6A1 as ready","entity_name":"COL6A1","entity_type":"gene"},{"created":"2022-06-02T16:02:53.417293+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col6a1 has been classified as Green List (High Evidence).","entity_name":"COL6A1","entity_type":"gene"},{"created":"2022-06-02T14:49:57.704243+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL6A1 were changed from  to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090","entity_name":"COL6A1","entity_type":"gene"},{"created":"2022-06-02T14:45:36.553826+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL6A1 were set to ","entity_name":"COL6A1","entity_type":"gene"},{"created":"2022-06-02T14:44:05.566496+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL6A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL6A1","entity_type":"gene"},{"created":"2022-06-02T14:43:30.622462+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL6A1","entity_type":"gene"},{"created":"2022-06-02T13:36:07.551426+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; immune dysregulation to Immunodeficiency 102, MIM# 301082","entity_name":"SASH3","entity_type":"gene"},{"created":"2022-06-02T13:35:23.993175+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; immune dysregulation to Immunodeficiency 102, MIM# 301082","entity_name":"SASH3","entity_type":"gene"},{"created":"2022-06-02T13:34:52.785936+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SASH3: Changed phenotypes: Immunodeficiency 102, MIM# 301082","entity_name":"SASH3","entity_type":"gene"},{"created":"2022-06-02T13:34:38.232619+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SASH3: Changed phenotypes: Immunodeficiency 102, MIM# 301082","entity_name":"SASH3","entity_type":"gene"},{"created":"2022-06-02T13:34:18.961765+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; immune dysregulation to Immunodeficiency 102, MIM# 301082","entity_name":"SASH3","entity_type":"gene"},{"created":"2022-06-02T13:33:39.987946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SASH3: Changed phenotypes: Immunodeficiency 102, MIM# 301082","entity_name":"SASH3","entity_type":"gene"},{"created":"2022-06-02T13:05:57.272188+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.829","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18835491, 23022099, 23022098, 25604853, 26395190; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T13:02:46.220991+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1615","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23022098, 25604853, 26395190; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T12:46:25.514334+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.60","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: BUB1 as Amber List (moderate evidence)","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T12:46:25.504219+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.60","user_name":"Elena Savva","item_type":"entity","text":"Gene: bub1 has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T12:43:46.615972+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RMND1 as ready","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T12:43:46.606473+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmnd1 has been classified as Green List (High Evidence).","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T12:43:42.162350+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RMND1 were changed from  to Combined oxidative phosphorylation deficiency 11 MIM#614922","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T12:43:10.299671+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RMND1 were set to ","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T12:42:33.284189+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T12:41:59.046287+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T12:35:51.379852+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATOH1 as ready","entity_name":"ATOH1","entity_type":"gene"},{"created":"2022-06-02T12:35:51.366767+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atoh1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATOH1","entity_type":"gene"},{"created":"2022-06-02T12:35:45.545190+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATOH1 as Amber List (moderate evidence)","entity_name":"ATOH1","entity_type":"gene"},{"created":"2022-06-02T12:35:45.533292+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atoh1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATOH1","entity_type":"gene"},{"created":"2022-06-02T12:34:06.663089+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BUB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, BUB1-related MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T12:32:38.254924+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BUB1 as Amber List (moderate evidence)","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T12:32:38.245868+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1 has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T12:29:30.146702+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4822","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEMA6B as ready","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2022-06-02T12:29:30.130553+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4822","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema6b has been classified as Green List (High Evidence).","entity_name":"SEMA6B","entity_type":"gene"}]}