{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=375","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=373","results":[{"created":"2024-10-05T08:33:26.032865+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.369","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients. (OMIM)","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-10-05T08:33:25.974732+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.369","user_name":"Lilian Downie","item_type":"entity","text":"Gene: cyp27a1 has been classified as Green List (High Evidence).","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-10-05T08:33:22.022675+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.369","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CYP27A1 were set to ","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-10-05T08:29:14.567777+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.368","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CYP7B1 as ready","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2024-10-05T08:29:14.551525+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.368","user_name":"Lilian Downie","item_type":"entity","text":"Gene: cyp7b1 has been classified as Green List (High Evidence).","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2024-10-05T08:28:54.972197+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.368","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3, 613812 (3) to Bile acid synthesis defect, congenital, 3, 613812 (3); Spastic paraplegia 5A, 270800 (3)","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2024-10-05T08:28:39.538760+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.367","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CYP7B1 were set to ","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2024-10-05T08:27:31.826315+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.366","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: OCRL as ready","entity_name":"OCRL","entity_type":"gene"},{"created":"2024-10-05T08:27:31.814675+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.366","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ocrl has been classified as Green List (High Evidence).","entity_name":"OCRL","entity_type":"gene"},{"created":"2024-10-05T08:27:27.613453+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.366","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 (3) to Dent disease 2 MIM#300555; Lowe syndrome MIM#309000","entity_name":"OCRL","entity_type":"gene"},{"created":"2024-10-05T08:27:11.275050+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.365","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: OCRL were set to ","entity_name":"OCRL","entity_type":"gene"},{"created":"2024-10-05T08:25:59.459895+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.364","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: PKHD1 as ready","entity_name":"PKHD1","entity_type":"gene"},{"created":"2024-10-05T08:25:59.441014+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.364","user_name":"Lilian Downie","item_type":"entity","text":"Gene: pkhd1 has been classified as Green List (High Evidence).","entity_name":"PKHD1","entity_type":"gene"},{"created":"2024-10-05T08:25:55.436233+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.364","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 (3) to Polycystic kidney disease 4, with or without hepatic disease MIM#263200","entity_name":"PKHD1","entity_type":"gene"},{"created":"2024-10-05T08:25:38.710103+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.363","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: PKHD1 were set to ","entity_name":"PKHD1","entity_type":"gene"},{"created":"2024-10-05T08:24:30.817613+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.362","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: DHCR7 as ready","entity_name":"DHCR7","entity_type":"gene"},{"created":"2024-10-05T08:24:30.807893+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.362","user_name":"Lilian Downie","item_type":"entity","text":"Gene: dhcr7 has been classified as Green List (High Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2024-10-05T08:24:24.166159+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.362","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: DHCR7 were set to ","entity_name":"DHCR7","entity_type":"gene"},{"created":"2024-10-05T08:22:26.929482+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.361","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ALPL as ready","entity_name":"ALPL","entity_type":"gene"},{"created":"2024-10-05T08:22:26.916414+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.361","user_name":"Lilian Downie","item_type":"entity","text":"Gene: alpl has been classified as Green List (High Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2024-10-05T08:22:22.411768+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.361","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, 241500 (3) to Hypophosphatasia, childhood (MIM#241510); Hypophosphatasia, infantile (MIM#241500)","entity_name":"ALPL","entity_type":"gene"},{"created":"2024-10-05T08:22:08.582442+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.360","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ALPL were set to ","entity_name":"ALPL","entity_type":"gene"},{"created":"2024-10-04T18:59:27.916401+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATAD2B as ready","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-04T18:59:27.901087+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad2b has been classified as Amber List (Moderate Evidence).","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-04T18:59:08.753113+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6388","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATAD2B as Amber List (moderate evidence)","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-04T18:59:08.737881+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad2b has been classified as Amber List (Moderate Evidence).","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-04T10:49:10.004580+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6387","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLR3K as Green List (high evidence)","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T10:49:09.984585+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6387","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: polr3k has been classified as Green List (High Evidence).","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T09:35:36.393808+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6386","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POLR3K was added\ngene: POLR3K was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3K were set to https://doi.org/10.1155/2024/8807171; 30584594\nPhenotypes for gene: POLR3K were set to POLR3-related leukodystrophy MONDO:0700282\nReview for gene: POLR3K was set to GREEN\nAdded comment: 3 apparently unrelated cases (1 compound het & 2 homozygous for the same missense & supporting functional assays) with phenotypes consistent with POLR3-related leukodystrophy which includes ID and DD as part of the phenotype. \nSources: Literature","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T09:17:41.345023+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: POLR3K were set to 30584594; 33659930","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T09:12:25.581456+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.312","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: POLR3K were changed from Hypomyelinating leukodystrophy-21, MIM#619310 to POLR3-related leukodystrophy MONDO:0700282","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T09:11:41.439271+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLR3K as Green List (high evidence)","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T09:11:41.428361+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: polr3k has been classified as Green List (High Evidence).","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T09:11:17.415870+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.310","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: POLR3K: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1155/2024/8807171, 30584594; Phenotypes: POLR3-related leukodystrophy MONDO:0700282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T09:01:06.849335+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2054","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: POLR3K were changed from Hypomyelinating leukodystrophy-21, MIM#619310 to POLR3-related leukodystrophy MONDO:0700282","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T08:57:58.252664+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2053","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: POLR3K were set to 30584594; 33659930","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T08:50:36.021482+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2052","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLR3K as Green List (high evidence)","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T08:50:35.989293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2052","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: polr3k has been classified as Green List (High Evidence).","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T08:49:55.389716+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2051","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: POLR3K: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1155/2024/8807171, 30584594; Phenotypes: POLR3-related leukodystrophy MONDO:0700282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLR3K","entity_type":"gene"},{"created":"2024-10-04T07:02:18.282486+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2051","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RELB as Green List (high evidence)","entity_name":"RELB","entity_type":"gene"},{"created":"2024-10-04T07:02:18.268595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2051","user_name":"Chirag Patel","item_type":"entity","text":"Gene: relb has been classified as Green List (High Evidence).","entity_name":"RELB","entity_type":"gene"},{"created":"2024-10-04T07:01:59.792464+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2050","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39231201; Phenotypes: T-cell and B cell immunodeficiency, Immunodeficiency 53, OMIM #617585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RELB","entity_type":"gene"},{"created":"2024-10-04T07:01:51.719836+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.74","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RELB as Green List (high evidence)","entity_name":"RELB","entity_type":"gene"},{"created":"2024-10-04T07:01:51.706298+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.74","user_name":"Chirag Patel","item_type":"entity","text":"Gene: relb has been classified as Green List (High Evidence).","entity_name":"RELB","entity_type":"gene"},{"created":"2024-10-04T07:01:12.897779+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.73","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39231201; Phenotypes: T-cell and B cell immunodeficiency, Immunodeficiency 53, OMIM #617585,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RELB","entity_type":"gene"},{"created":"2024-10-04T06:43:42.304192+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2049","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: BMP5: Changed publications: PMID: 39239663","entity_name":"BMP5","entity_type":"gene"},{"created":"2024-10-04T06:43:11.280200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2048","user_name":"Chirag Patel","item_type":"entity","text":"gene: BMP5 was added\ngene: BMP5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BMP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BMP5 were set to Skeletal dysostosis and atrioventricular septal defect, no OMIM#\nPhenotypes for gene: BMP5 were set to Skeletal dysostosis and atrioventricular septal defect, no OMIM#\nReview for gene: BMP5 was set to RED\nAdded comment: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders. \nSources: Literature","entity_name":"BMP5","entity_type":"gene"},{"created":"2024-10-04T06:42:55.029434+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.287","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders. \nSources: Literature; to: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders. \r\nSources: Literature","entity_name":"BMP5","entity_type":"gene"},{"created":"2024-10-04T06:40:07.156460+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.287","user_name":"Chirag Patel","item_type":"entity","text":"gene: BMP5 was added\ngene: BMP5 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: BMP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BMP5 were set to PMID: 39239663\nPhenotypes for gene: BMP5 were set to Skeletal dysostosis and atrioventricular septal defect\nReview for gene: BMP5 was set to RED\nAdded comment: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders. \nSources: Literature","entity_name":"BMP5","entity_type":"gene"},{"created":"2024-10-03T20:21:35.856727+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6385","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GFAP as ready","entity_name":"GFAP","entity_type":"gene"},{"created":"2024-10-03T20:21:35.845318+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6385","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gfap has been classified as Green List (High Evidence).","entity_name":"GFAP","entity_type":"gene"},{"created":"2024-10-03T20:21:26.147596+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6385","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: GFAP were changed from  to Alexander disease MONDO:0008752","entity_name":"GFAP","entity_type":"gene"},{"created":"2024-10-03T20:20:38.018565+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6384","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: GFAP were set to ","entity_name":"GFAP","entity_type":"gene"},{"created":"2024-10-03T20:19:48.311846+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6383","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: GFAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFAP","entity_type":"gene"},{"created":"2024-10-03T20:19:09.073245+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6382","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301351; Phenotypes: Alexander disease MONDO:0008752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GFAP","entity_type":"gene"},{"created":"2024-10-03T20:04:39.169780+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FLVCR1 as ready","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T20:04:39.143393+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T20:02:47.413585+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FLVCR1 as Green List (high evidence)","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T20:02:47.401124+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T20:00:10.984104+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLVCR1 was added\ngene: FLVCR1 was added to Hand and foot malformations. Sources: Literature\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLVCR1 were set to 39306721\nPhenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related\nReview for gene: FLVCR1 was set to GREEN\ngene: FLVCR1 was marked as current diagnostic\nAdded comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present. \nSources: Literature","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:51:51.926371+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.42","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FLVCR1 as ready","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:51:51.914067+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.42","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:50:49.711242+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.42","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FLVCR1 as Green List (high evidence)","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:50:49.697711+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.42","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:50:17.310680+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.41","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLVCR1 was added\ngene: FLVCR1 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLVCR1 were set to 39306721\nPhenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related\nReview for gene: FLVCR1 was set to GREEN\nAdded comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in  FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death.  Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present. \nSources: Literature","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:39:48.206303+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.63","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FLVCR1 as ready","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:39:48.195316+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.63","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:39:16.858659+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.63","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FLVCR1 as Green List (high evidence)","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:39:16.847374+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.63","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:37:36.109732+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.62","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLVCR1 was added\ngene: FLVCR1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLVCR1 were set to 39306721\nPhenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related\nReview for gene: FLVCR1 was set to GREEN\ngene: FLVCR1 was marked as current diagnostic\nAdded comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in  FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death.  Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present. \nSources: Literature","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T19:04:48.218694+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6382","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATAD2B was added\ngene: ATAD2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATAD2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD2B were set to 39313616\nPhenotypes for gene: ATAD2B were set to neurodevelopmental disorder MONDO:0700092, ATAD2B-related\nReview for gene: ATAD2B was set to AMBER\nAdded comment: 3 families including 2 siblings\r\n1 fam is hom for a highly conserved missense\r\n\r\nAmber because of the lack of specific phenotypes:\r\nAbnormality of the nervous system and Abnormality of the eye \nSources: Literature","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-03T18:25:57.097136+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6381","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS22 as ready","entity_name":"MRPS22","entity_type":"gene"},{"created":"2024-10-03T18:25:57.045399+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6381","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps22 has been classified as Green List (High Evidence).","entity_name":"MRPS22","entity_type":"gene"},{"created":"2024-10-03T18:25:52.101714+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6381","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS22 were changed from  to Combined oxidative phosphorylation deficiency 5 MIM#611719","entity_name":"MRPS22","entity_type":"gene"},{"created":"2024-10-03T18:25:04.113068+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6380","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS22 were set to ","entity_name":"MRPS22","entity_type":"gene"},{"created":"2024-10-03T18:24:09.001085+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6379","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS22","entity_type":"gene"},{"created":"2024-10-03T18:23:11.543766+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6378","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTFMT as ready","entity_name":"MTFMT","entity_type":"gene"},{"created":"2024-10-03T18:23:11.527255+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6378","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtfmt has been classified as Green List (High Evidence).","entity_name":"MTFMT","entity_type":"gene"},{"created":"2024-10-03T18:23:04.487647+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6378","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTFMT were changed from  to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248","entity_name":"MTFMT","entity_type":"gene"},{"created":"2024-10-03T18:22:27.327918+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6377","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTFMT were set to 21907147; 23499752; 24461907; 22499348","entity_name":"MTFMT","entity_type":"gene"},{"created":"2024-10-03T18:21:41.311921+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6376","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTFMT were set to ","entity_name":"MTFMT","entity_type":"gene"},{"created":"2024-10-03T18:20:38.791373+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6375","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTFMT","entity_type":"gene"},{"created":"2024-10-03T18:19:49.364313+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6374","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MVK as ready","entity_name":"MVK","entity_type":"gene"},{"created":"2024-10-03T18:19:49.351295+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mvk has been classified as Green List (High Evidence).","entity_name":"MVK","entity_type":"gene"},{"created":"2024-10-03T18:19:43.408436+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6374","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MVK were changed from  to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377)","entity_name":"MVK","entity_type":"gene"},{"created":"2024-10-03T18:19:18.142014+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6374","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MVK were set to 29047407; 26409462","entity_name":"MVK","entity_type":"gene"},{"created":"2024-10-03T18:18:49.015506+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6373","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MVK were set to 29047407; 26409462","entity_name":"MVK","entity_type":"gene"},{"created":"2024-10-03T18:18:02.865987+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6373","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MVK were set to ","entity_name":"MVK","entity_type":"gene"},{"created":"2024-10-03T18:17:03.954105+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6373","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MVK","entity_type":"gene"},{"created":"2024-10-03T18:15:11.714273+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6372","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MVK","entity_type":"gene"},{"created":"2024-10-03T18:13:13.752750+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6371","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYO5A as ready","entity_name":"MYO5A","entity_type":"gene"},{"created":"2024-10-03T18:13:13.720122+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo5a has been classified as Green List (High Evidence).","entity_name":"MYO5A","entity_type":"gene"},{"created":"2024-10-03T18:08:36.643520+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6371","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO5A were changed from  to Griscelli syndrome, type 1 MIM#214450","entity_name":"MYO5A","entity_type":"gene"},{"created":"2024-10-03T18:07:06.903013+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6370","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO5A were set to ","entity_name":"MYO5A","entity_type":"gene"},{"created":"2024-10-03T18:04:48.533252+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6369","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYO5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO5A","entity_type":"gene"},{"created":"2024-10-03T18:03:46.724382+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6368","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTHFR as ready","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-10-03T18:03:46.709008+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6368","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mthfr has been classified as Green List (High Evidence).","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-10-03T18:03:40.369120+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6368","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTHFR were changed from  to Homocystinuria due to MTHFR deficiency MIM#236250; Disorders of folate metabolism and transport","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-10-03T18:02:55.256316+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6367","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTHFR were set to ","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-10-03T18:02:10.770185+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6366","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MTHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTHFR","entity_type":"gene"}]}