{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=359","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=357","results":[{"created":"2024-10-28T18:34:29.961906+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.371","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC33A1 were set to ","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:33:56.814344+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.370","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:33:18.936373+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.369","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:32:28.838958+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.570","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC33A1 as ready","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:32:28.816610+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.570","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc33a1 has been classified as Green List (High Evidence).","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:32:24.709113+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.570","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC33A1 as Green List (high evidence)","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:32:24.699249+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.570","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc33a1 has been classified as Green List (High Evidence).","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:31:50.394584+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.569","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC33A1 was added\ngene: SLC33A1 was added to Regression. Sources: Literature\nMode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC33A1 were set to 31194315\nPhenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482\nReview for gene: SLC33A1 was set to GREEN\nAdded comment: Multiple families reported. Progressive disorder characterised by cerebral and cerebellar atrophy. \nSources: Literature","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:28:59.128042+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6601","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC33A1 as ready","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:28:59.091148+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6601","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc33a1 has been classified as Green List (High Evidence).","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:28:50.455781+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6601","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC33A1 were changed from  to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:28:26.166917+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6601","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC33A1 were set to 31194315","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:23:03.513029+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6600","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC33A1 were set to ","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:21:47.902953+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6599","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T18:21:08.731480+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6598","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2024-10-28T17:24:13.801318+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6598","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC2A1 as ready","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2024-10-28T17:24:13.787810+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6598","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc2a1 has been classified as Green List (High Evidence).","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2024-10-28T17:24:07.401098+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6598","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC2A1 were changed from  to GLUT1-deficiency syndrome, MONDO:0000188; Dystonia 9 601042; GLUT1 deficiency syndrome 1, infantile onset, severe 606777; GLUT1 deficiency syndrome 2, childhood onset 612126; Stomatin-deficient cryohydrocytosis with neurologic defects 608885","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2024-10-28T17:23:29.596230+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6597","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC2A1 were set to ","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2024-10-28T17:22:51.201596+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6596","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2024-10-28T17:22:09.469288+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6595","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32913944; Phenotypes: GLUT1-deficiency syndrome, MONDO:0000188, Dystonia 9 601042, GLUT1 deficiency syndrome 1, infantile onset, severe 606777, GLUT1 deficiency syndrome 2, childhood onset 612126, Stomatin-deficient cryohydrocytosis with neurologic defects 608885; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2024-10-28T17:19:06.296509+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6595","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A22 as ready","entity_name":"SLC25A22","entity_type":"gene"},{"created":"2024-10-28T17:19:06.277469+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6595","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a22 has been classified as Green List (High Evidence).","entity_name":"SLC25A22","entity_type":"gene"},{"created":"2024-10-28T17:18:57.720513+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6595","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A22 were changed from  to Developmental and epileptic encephalopathy 3, MIM# 609304","entity_name":"SLC25A22","entity_type":"gene"},{"created":"2024-10-28T17:16:29.442624+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6594","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A22 were set to ","entity_name":"SLC25A22","entity_type":"gene"},{"created":"2024-10-28T17:15:33.364303+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6593","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A22","entity_type":"gene"},{"created":"2024-10-28T17:14:43.174312+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6592","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A22","entity_type":"gene"},{"created":"2024-10-28T16:51:51.942412+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.946","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-28T16:51:48.273120+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.945","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A12 as ready","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-28T16:51:48.249063+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.945","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a12 has been classified as Green List (High Evidence).","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-28T11:31:59.389376+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature,\r\nhip dislocation, radial head dislocation, and carpal coalition; to: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature, hip dislocation, radial head dislocation, and carpal coalition","entity_name":"COL27A1","entity_type":"gene"},{"created":"2024-10-28T11:29:57.433386+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32360765, 33963180; Phenotypes: Steel syndrome (MIM#615155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL27A1","entity_type":"gene"},{"created":"2024-10-28T11:13:16.221956+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23304067, 35481838; Phenotypes: Usher syndrome, type 3A (MIM#276902); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLRN1","entity_type":"gene"},{"created":"2024-10-28T08:41:07.718007+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.289","user_name":"Chirag Patel","item_type":"entity","text":"gene: DDX41 was added\ngene: DDX41 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: DDX41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX41 were set to PMID: 39453476\nPhenotypes for gene: DDX41 were set to Bone dysplasia, ichthyosis, and dysmorphism\nReview for gene: DDX41 was set to RED\nAdded comment: 1 patient with acromesomelic dysplasia (short stature, premature closure of epiphyses of hands/feet), chronic ichthyotic-like skin changes, joint pain, facial dysmorphism, dental crowding, difficulty in swallowing, hyperinsulinism, and absent breast development.. WES identified compound heterozygous DDX41 variants (p.Met155Ile and p.Glu345Lys). Parents confirmed carriers of single variant. \r\n\r\nDDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases regulate all aspects of RNA metabolism. DDX41 acts as a sensor of viral DNA and activates the STING-TBK1-IRF3-type I IFN signaling pathway. Functional analyses of the patient-derived dermal fibroblasts revealed a reduced abundance of DDX41 and abrogated activation of the IFN genes through the STING-type I interferon pathway. Genome-wide transcriptome analyses in the patient's fibroblasts revealed significant gene dysregulation and changes in the RNA splicing events. The patient's fibroblasts also displayed upregulation of periostin mRNA expression. Using an RNA binding protein assay, they identified DDX41 as a novel regulator of periostin expression. \nSources: Literature","entity_name":"DDX41","entity_type":"gene"},{"created":"2024-10-27T17:05:45.874723+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.289","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:05:31.070695+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.288","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:05:13.438403+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:05:03.079458+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:04:41.625529+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:04:29.900543+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:04:10.767866+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6592","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:03:32.994752+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6591","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: None","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:03:17.582870+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:02:40.829847+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: None","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:02:17.305735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2072","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T17:00:05.628444+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2071","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZRSR2: Changed phenotypes: Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T16:59:49.986747+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T16:59:10.806642+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZRSR2: Changed phenotypes: Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T16:58:42.845790+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-27T16:58:03.955263+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZRSR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: None","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-10-25T23:07:42.042856+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273 30635494 2131027 23794683; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFPT1","entity_type":"gene"},{"created":"2024-10-25T23:00:41.118389+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866 30420205 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency MIM#613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOLR1","entity_type":"gene"},{"created":"2024-10-25T22:57:04.748022+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615118 31288759 20301575; Phenotypes: Fanconi anemia, complementation group F MIM#603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCF","entity_type":"gene"},{"created":"2024-10-25T22:53:38.704243+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690 28148688 28331220 38010729 35114981; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities MIM#617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXTL3","entity_type":"gene"},{"created":"2024-10-25T22:42:46.298350+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22387996 32622824 31186518 33577779 39004944 35869935 39289782 38296613 32502479 33479112; Phenotypes: Ciliary dyskinesia, primary, 2 MIM#606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAAF3","entity_type":"gene"},{"created":"2024-10-25T19:01:42.485404+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.945","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T19:01:00.577548+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A12 were changed from  to Developmental and epileptic encephalopathy 39, MIM# 612949","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:59:23.194874+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.943","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:58:48.464168+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.943","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:58:09.107813+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.942","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A12 were set to ","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:52:58.176078+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.941","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:52:14.517717+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.\r\n\r\nMultiple families and functional data, including mouse model.; to: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.\r\n\r\nMultiple families and functional data, including mouse model.\r\n\r\nThe SLC25A12 gene encodes aralar, a protein that functions in the transport of aspartate from mitochondria to cytosol in exchange for glutamate. Aralar also plays a role in the transfer of cytosolic reducing equivalents into mitochondria as a member of the malate-aspartate NADH shuttle.","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:51:08.499693+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6591","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A12 as ready","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:51:08.478991+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6591","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a12 has been classified as Green List (High Evidence).","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:51:00.303634+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6591","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A12 were changed from  to Developmental and epileptic encephalopathy 39, MIM# 612949","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:50:01.180151+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6590","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A12 were set to ","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:49:16.219420+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6589","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:47:06.264542+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6588","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19641205, 24515575, 35008954, 32700846, 31766059, 31514314; Phenotypes: Developmental and epileptic encephalopathy 39, MIM# 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A12","entity_type":"gene"},{"created":"2024-10-25T18:45:18.070110+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6588","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC17A5 as ready","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2024-10-25T18:45:18.054523+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6588","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc17a5 has been classified as Green List (High Evidence).","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2024-10-25T16:53:58.811189+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TANGO2","entity_type":"gene"},{"created":"2024-10-25T16:52:09.588530+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MIM#612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2024-10-25T16:50:45.937185+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM#256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPINK5","entity_type":"gene"},{"created":"2024-10-25T16:48:27.594181+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"changed review comment from: OMIM:\r\nCharcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.\r\n\r\nHereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.\r\n\r\nAutosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).; to: OMIM:\r\nCharcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.\r\n\r\nHereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.\r\n\r\nClinGen lumps all 3 conditions under spastic paraplegia 11\r\n\r\nAutosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).","entity_name":"SPG11","entity_type":"gene"},{"created":"2024-10-25T16:45:32.565728+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive MIM#604360, Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPG11","entity_type":"gene"},{"created":"2024-10-25T16:39:24.407663+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SH3TC2","entity_type":"gene"},{"created":"2024-10-25T16:33:51.748142+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEMA4A","entity_type":"gene"},{"created":"2024-10-25T16:29:20.148128+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21 MIM#616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCYL1","entity_type":"gene"},{"created":"2024-10-25T16:27:47.124413+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RTN4IP1","entity_type":"gene"},{"created":"2024-10-25T16:22:21.568435+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tonne-Kalscheuer syndrome MIM#300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RLIM","entity_type":"gene"},{"created":"2024-10-25T16:16:45.889211+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"REN","entity_type":"gene"},{"created":"2024-10-25T16:13:18.741071+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: REEP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 77 MIM#617304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"REEP6","entity_type":"gene"},{"created":"2024-10-25T16:03:19.938364+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17594401; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326, Fetal akinesia deformation sequence 2 MIM#618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAPSN","entity_type":"gene"},{"created":"2024-10-25T14:31:16.126830+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131974, 31650533; Phenotypes: Ciliary dyskinesia, primary, 15 MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC40","entity_type":"gene"},{"created":"2024-10-25T14:29:23.633059+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD1 as ready","entity_name":"CHD1","entity_type":"gene"},{"created":"2024-10-25T14:29:23.611473+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd1 has been classified as Amber List (Moderate Evidence).","entity_name":"CHD1","entity_type":"gene"},{"created":"2024-10-25T14:25:56.425341+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD1 as Amber List (moderate evidence)","entity_name":"CHD1","entity_type":"gene"},{"created":"2024-10-25T14:25:56.412945+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd1 has been classified as Amber List (Moderate Evidence).","entity_name":"CHD1","entity_type":"gene"},{"created":"2024-10-25T14:20:18.841797+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972; Phenotypes: Ciliary dyskinesia, primary, 14 MIM#613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC39","entity_type":"gene"},{"created":"2024-10-25T14:02:38.116933+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 1 MIM#235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCBE1","entity_type":"gene"},{"created":"2024-10-25T13:26:56.756246+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22620673, 26646938; Phenotypes: Hyperparathyroidism, neonatal MIM#239200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CASR","entity_type":"gene"},{"created":"2024-10-25T12:18:51.129202+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BOLA3","entity_type":"gene"},{"created":"2024-10-25T12:11:41.744504+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33771153, 31283077; Phenotypes: Bardet-Biedl syndrome 9 MIM#615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS9","entity_type":"gene"},{"created":"2024-10-25T11:13:31.802080+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31678577, 23793029, 31635528, 24610927, 37525964; Phenotypes: Nephronophthisis 16 MIM#615382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANKS6","entity_type":"gene"},{"created":"2024-10-25T11:00:37.011892+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.486","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155189, 20301500; Phenotypes: Joubert syndrome 3 MIM#608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AHI1","entity_type":"gene"},{"created":"2024-10-25T09:34:36.047535+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.288","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: RREB1 as ready","entity_name":"RREB1","entity_type":"gene"},{"created":"2024-10-25T09:34:36.031102+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.288","user_name":"Krithika Murali","item_type":"entity","text":"Gene: rreb1 has been classified as Amber List (Moderate Evidence).","entity_name":"RREB1","entity_type":"gene"},{"created":"2024-10-25T09:34:28.152713+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.288","user_name":"Krithika Murali","item_type":"entity","text":"Publications for gene: RREB1 were set to 32938917; 38332451","entity_name":"RREB1","entity_type":"gene"},{"created":"2024-10-25T09:34:24.672105+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.287","user_name":"Krithika Murali","item_type":"entity","text":"Publications for gene: RREB1 were set to PMID: 32938917; 38332451","entity_name":"RREB1","entity_type":"gene"},{"created":"2024-10-25T09:34:04.178923+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.286","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: RREB1 as Amber List (moderate evidence)","entity_name":"RREB1","entity_type":"gene"}]}