{"count":220755,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=986","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=984","results":[{"created":"2022-02-20T17:35:56.037471+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhlh2 has been classified as Red List (Low Evidence).","entity_name":"NHLH2","entity_type":"gene"},{"created":"2022-02-20T17:35:18.155639+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NHLH2 was added\ngene: NHLH2 was added to Differences of Sex Development. Sources: Expert Review\nMode of inheritance for gene: NHLH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHLH2 were set to 35066646\nPhenotypes for gene: NHLH2 were set to Hypogonadotropic hypogonadism 27 without anosmia , MIM#\t619755\nReview for gene: NHLH2 was set to RED\nAdded comment: Single individual reported homozygous for a missense variant in this gene. Two other individuals heterozygous for missense variants identified as part of this cohort; however, had alternative diagnoses. \nSources: Expert Review","entity_name":"NHLH2","entity_type":"gene"},{"created":"2022-02-19T18:54:28.595200+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11004","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SPATA16: Rating: AMBER; Mode of pathogenicity: None; Publications: 17847006, 27086357, 29065458; Phenotypes: ?Spermatogenic failure 6 MIM#102530, Spermatogenic failure 6 MONDO:0007060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SPATA16","entity_type":"gene"},{"created":"2022-02-19T18:43:03.613338+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11004","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: TNFRSF10B: Rating: RED; Mode of pathogenicity: None; Publications: 9721851; Phenotypes: Squamous cell carcinoma, head and neck MIM#275355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TNFRSF10B","entity_type":"gene"},{"created":"2022-02-19T18:40:51.918365+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11004","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: MAPK8IP1: Rating: RED; Mode of pathogenicity: None; Publications: 10700186; Phenotypes: Susceptibility to diabetes mellitus, noninsulin-dependent MIM#125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"MAPK8IP1","entity_type":"gene"},{"created":"2022-02-19T18:37:34.294108+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11004","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SMIM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood group, Vel system MIM#615264; Mode of inheritance: Unknown; Current diagnostic: yes","entity_name":"SMIM1","entity_type":"gene"},{"created":"2022-02-19T18:34:28.689456+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11004","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: ACKR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood group, Duffy system MIM#110700; Mode of inheritance: Unknown; Current diagnostic: yes","entity_name":"ACKR1","entity_type":"gene"},{"created":"2022-02-19T18:33:44.948368+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11004","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: OGG1: Rating: RED; Mode of pathogenicity: None; Publications: 10987279, 29305130; Phenotypes: Renal cell carcinoma, clear cell, somatic MIM#144700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"OGG1","entity_type":"gene"},{"created":"2022-02-19T18:32:59.516625+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11004","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: B3GALNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood group, globoside system MIM#615021; Mode of inheritance: Unknown; Current diagnostic: yes","entity_name":"B3GALNT1","entity_type":"gene"},{"created":"2022-02-19T18:32:25.164907+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11004","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SERPINA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34126618, 32266677, 17887925, 28553659, 29733970, 16947003; Phenotypes: Thyroxine-binding globulin QTL MIM#300932, Thyroxine-binding globulin deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"SERPINA7","entity_type":"gene"},{"created":"2022-02-19T17:42:04.946914+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PBX1 as ready","entity_name":"PBX1","entity_type":"gene"},{"created":"2022-02-19T17:42:04.917376+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pbx1 has been classified as Green List (High Evidence).","entity_name":"PBX1","entity_type":"gene"},{"created":"2022-02-19T17:41:59.814848+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PBX1 as Green List (high evidence)","entity_name":"PBX1","entity_type":"gene"},{"created":"2022-02-19T17:41:59.803982+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pbx1 has been classified as Green List (High Evidence).","entity_name":"PBX1","entity_type":"gene"},{"created":"2022-02-19T17:41:30.631911+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PBX1 was added\ngene: PBX1 was added to Congenital diaphragmatic hernia. Sources: Expert Review\nMode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PBX1 were set to 28566479; 29036646; 29966037\nPhenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641\nReview for gene: PBX1 was set to GREEN\nAdded comment: CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most individuals have global developmental delay. More than 10 unrelated families reported.\r\n\r\nCDH reported in several. \nSources: Expert Review","entity_name":"PBX1","entity_type":"gene"},{"created":"2022-02-18T20:15:01.417891+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11004","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:TBK1 from the panel","entity_name":null,"entity_type":null},{"created":"2022-02-18T20:13:19.810509+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBK1 as ready","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-02-18T20:13:19.796778+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbk1 has been classified as Green List (High Evidence).","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-02-18T20:13:15.093977+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBK1 as Green List (high evidence)","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-02-18T20:13:15.084784+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbk1 has been classified as Green List (High Evidence).","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-02-18T20:12:44.436945+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBK1 was added\ngene: TBK1 was added to Incidentalome. Sources: Expert Review\nMode of inheritance for gene: TBK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBK1 were set to 25803835; 26581300; 31000212; 25943890\nPhenotypes for gene: TBK1 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (MIM#616439), AD\nReview for gene: TBK1 was set to GREEN\nAdded comment: Well established gene-disease association for an adult-onset neurodegenerative disorder. \nSources: Expert Review","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-02-18T16:29:37.379094+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3709","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGA7 as ready","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-02-18T16:29:37.368131+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3709","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itga7 has been classified as Red List (Low Evidence).","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-02-18T16:29:28.337133+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3709","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITGA7 were changed from CONGENITAL MUSCULAR DYSTROPHY to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-02-18T16:29:10.782570+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3708","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Primarily a muscle phenotype, accompanied by gross motor delay as expected. One out of 3 reported individuals had intellectual disability.; to: Primarily a muscle phenotype, typically presents post-natally.","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-02-18T16:28:54.360069+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3708","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ITGA7: Changed rating: RED","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-02-18T16:24:59.894959+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3708","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IQSEC2 as ready","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2022-02-18T16:24:59.884273+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3708","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iqsec2 has been classified as Red List (Low Evidence).","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2022-02-18T16:24:55.322782+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3708","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IQSEC2 were changed from MENTAL RETARDATION X-LINKED TYPE 1 to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2022-02-18T16:24:38.092178+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3707","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IQSEC2 were set to ","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2022-02-18T16:24:18.382565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3706","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Clinical presentation is typically post-natal.","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2022-02-18T16:24:01.362483+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3706","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IQSEC2: Changed rating: RED","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2022-02-18T16:20:12.556668+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3706","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYDIN as ready","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-02-18T16:20:12.544629+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3706","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hydin has been classified as Red List (Low Evidence).","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-02-18T16:20:08.851090+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3706","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HYDIN were changed from CILIARY DYSKINESIA, PRIMARY, 5 to Ciliary dyskinesia, primary, 5 (MIM#08647)","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-02-18T16:19:54.016780+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3705","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYDIN were set to 30712880","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-02-18T16:19:04.026361+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3704","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNRNPU as ready","entity_name":"HNRNPU","entity_type":"gene"},{"created":"2022-02-18T16:19:04.007298+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3704","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpu has been classified as Red List (Low Evidence).","entity_name":"HNRNPU","entity_type":"gene"},{"created":"2022-02-18T16:18:58.803022+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3704","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNRNPU were changed from EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, early infantile, 54, MIM#617391","entity_name":"HNRNPU","entity_type":"gene"},{"created":"2022-02-18T16:18:43.335980+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3703","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HNRNPU were set to ","entity_name":"HNRNPU","entity_type":"gene"},{"created":"2022-02-18T16:18:31.099296+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3702","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HNRNPU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNRNPU","entity_type":"gene"},{"created":"2022-02-18T16:18:18.193222+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3701","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: HNRNPU: Clinical presentation is typically post-natal.","entity_name":"HNRNPU","entity_type":"gene"},{"created":"2022-02-18T16:18:07.094922+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3701","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HNRNPU: Changed rating: RED","entity_name":"HNRNPU","entity_type":"gene"},{"created":"2022-02-18T16:17:27.269264+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3701","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HECW2 as ready","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-02-18T16:17:27.260162+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3701","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hecw2 has been classified as Red List (Low Evidence).","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-02-18T16:17:20.265879+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3701","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HECW2 were changed from HECW2 to Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268)","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-02-18T16:17:00.323155+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3700","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HECW2 were set to ","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-02-18T16:16:49.081417+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3699","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: HECW2 was changed from  to Other","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-02-18T16:16:33.402372+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3698","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HECW2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-02-18T16:16:19.279690+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3697","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Typically denovo missense variants in the HECT domain.\r\nPMID: 29807643 - R1191Q single case with severe D/ID, EE and regression\r\nPMID: 29395664 - single case with regression, loss of swallowing, increased abnormal movements/hand stereotypies, Rett like, cortical visual impairment and EE\r\nPMID: 27334371 - propose GOF or dominant negative; 1 case plus references 5 previous cases\r\nPMID: 27389779 - four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. Other common features include seizures, strabismus, nystagmus, cortical visual impairment and dysmorphic facial features. p. Arg1330Trp, p.Glu1445Gly reported >1 case.\r\nRegression reported in the context of refractory EE; to: Clinical presentation is typically post-natal.\r\n\r\nTypically denovo missense variants in the HECT domain.\r\nPMID: 29807643 - R1191Q single case with severe D/ID, EE and regression\r\nPMID: 29395664 - single case with regression, loss of swallowing, increased abnormal movements/hand stereotypies, Rett like, cortical visual impairment and EE\r\nPMID: 27334371 - propose GOF or dominant negative; 1 case plus references 5 previous cases\r\nPMID: 27389779 - four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. Other common features include seizures, strabismus, nystagmus, cortical visual impairment and dysmorphic facial features. p. Arg1330Trp, p.Glu1445Gly reported >1 case.\r\nRegression reported in the context of refractory EE","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-02-18T16:15:54.318239+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3697","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HECW2: Changed rating: RED","entity_name":"HECW2","entity_type":"gene"},{"created":"2022-02-18T16:14:31.263623+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3697","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HDAC4 as ready","entity_name":"HDAC4","entity_type":"gene"},{"created":"2022-02-18T16:14:31.251528+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3697","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2022-02-18T16:14:26.574558+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3697","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HDAC4 were changed from BRACHYDACTYLY-MENTAL RETARDATION SYNDROME to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability","entity_name":"HDAC4","entity_type":"gene"},{"created":"2022-02-18T16:14:07.513823+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3696","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HDAC4 were set to ","entity_name":"HDAC4","entity_type":"gene"},{"created":"2022-02-18T16:13:44.819262+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3695","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HDAC4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HDAC4","entity_type":"gene"},{"created":"2022-02-18T16:13:34.397293+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3694","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HDAC4 as Amber List (moderate evidence)","entity_name":"HDAC4","entity_type":"gene"},{"created":"2022-02-18T16:13:34.384803+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3694","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2022-02-18T16:13:21.804717+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3693","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only two reports of intragenic variants (still structural rather than SNVs).; to: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only two reports of intragenic variants (still structural rather than SNVs).\r\n\r\nSubtle brain abnormalities, hip dislocation reported in PMID 33537682.","entity_name":"HDAC4","entity_type":"gene"},{"created":"2022-02-18T16:10:31.797949+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3693","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HADH as ready","entity_name":"HADH","entity_type":"gene"},{"created":"2022-02-18T16:10:31.788447+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3693","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hadh has been classified as Red List (Low Evidence).","entity_name":"HADH","entity_type":"gene"},{"created":"2022-02-18T16:10:22.020480+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HADH were changed from 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975","entity_name":"HADH","entity_type":"gene"},{"created":"2022-02-18T16:10:05.192993+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3692","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Metabolic encephalopathy rather than ID; to: Metabolic encephalopathy, typically presents post-natally.","entity_name":"HADH","entity_type":"gene"},{"created":"2022-02-18T16:09:09.958384+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3692","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HACE1 as ready","entity_name":"HACE1","entity_type":"gene"},{"created":"2022-02-18T16:09:09.946386+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3692","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hace1 has been classified as Amber List (Moderate Evidence).","entity_name":"HACE1","entity_type":"gene"},{"created":"2022-02-18T16:09:04.882193+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3692","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HACE1 were changed from HACE1 related disorder to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764","entity_name":"HACE1","entity_type":"gene"},{"created":"2022-02-18T16:08:38.762283+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3691","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HACE1 were set to ","entity_name":"HACE1","entity_type":"gene"},{"created":"2022-02-18T16:08:23.110340+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3690","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HACE1 as Amber List (moderate evidence)","entity_name":"HACE1","entity_type":"gene"},{"created":"2022-02-18T16:08:23.100740+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hace1 has been classified as Amber List (Moderate Evidence).","entity_name":"HACE1","entity_type":"gene"},{"created":"2022-02-18T16:08:09.114457+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3689","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HACE1: Changed rating: AMBER","entity_name":"HACE1","entity_type":"gene"},{"created":"2022-02-18T16:07:32.482180+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3689","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: H3F3A as ready","entity_name":"H3F3A","entity_type":"gene"},{"created":"2022-02-18T16:07:32.470897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3689","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: h3f3a has been classified as Green List (High Evidence).","entity_name":"H3F3A","entity_type":"gene"},{"created":"2022-02-18T16:07:17.499382+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3689","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: H3F3A were changed from Craniofacial with neurodevelopment disorders to Bryant-Li-Bhoj neurodevelopmental syndrome 1, MIM#\t619720","entity_name":"H3F3A","entity_type":"gene"},{"created":"2022-02-18T16:06:56.892778+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3688","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: H3F3A were set to ","entity_name":"H3F3A","entity_type":"gene"},{"created":"2022-02-18T16:06:43.996313+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3687","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: H3F3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"H3F3A","entity_type":"gene"},{"created":"2022-02-18T16:06:34.962048+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3686","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: H3F3A as Green List (high evidence)","entity_name":"H3F3A","entity_type":"gene"},{"created":"2022-02-18T16:06:34.951468+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3686","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: h3f3a has been classified as Green List (High Evidence).","entity_name":"H3F3A","entity_type":"gene"},{"created":"2022-02-18T16:06:23.435916+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3685","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; to: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, including micro/macrocephaly, craniosynostosis, contractures, congenital heart disease.","entity_name":"H3F3A","entity_type":"gene"},{"created":"2022-02-18T16:04:43.102248+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3685","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: H19 as ready","entity_name":"H19","entity_type":"gene"},{"created":"2022-02-18T16:04:43.089725+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3685","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: h19 has been classified as Red List (Low Evidence).","entity_name":"H19","entity_type":"gene"},{"created":"2022-02-18T16:04:34.545540+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3685","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Part of the BWS/RSS locus but ID not a feature.; to: Methylation changes rather than sequence variation are associated with BWS/RSS.","entity_name":"H19","entity_type":"gene"},{"created":"2022-02-18T16:03:37.044276+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.104","user_name":"Zornitza Stark","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":"2022-02-18T16:02:46.280773+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA11 as ready","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:02:46.268900+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:02:43.370775+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to ","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:02:34.356075+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA11 as Amber List (moderate evidence)","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:02:34.346226+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:02:26.305465+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFA11: Rating: AMBER; 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":"2022-02-18T16:01:28.740738+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA11 as ready","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:01:28.729896+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Red List (Low Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:01:25.740185+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:01:03.636551+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA11 were changed from  to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:00:42.223853+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to 18306244; 31074871","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T16:00:21.502990+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to ","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:59:10.263397+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:34:01.603584+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA11 as Red List (low evidence)","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:34:01.591255+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Red List (Low Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:33:31.630760+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.398","user_name":"Zornitza Stark","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":"2022-02-18T15:32:28.134226+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA11 as ready","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-02-18T15:32:28.124509+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Red List (Low Evidence).","entity_name":"NDUFA11","entity_type":"gene"}]}