{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1734","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1732","results":[{"created":"2020-07-13T14:25:25.428843+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2020-07-13T14:25:04.457974+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AKR1C2 as Red List (low evidence)","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2020-07-13T14:25:04.450302+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akr1c2 has been classified as Red List (Low Evidence).","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2020-07-13T14:24:42.898620+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2020-07-13T14:24:42.467751+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: 21802064; Phenotypes: 46XY sex reversal 8, MIM# 614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2020-07-13T13:59:30.995389+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2747","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 26290468, 25846674, 29066376; Phenotypes: Mental retardation, X-linked, syndromic, 35 (MIM#300998); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RPL10","entity_type":"gene"},{"created":"2020-07-13T13:57:34.958751+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Crystle Lee","item_type":"entity","text":"gene: RPL10 was added\ngene: RPL10 was added to Disorders of Sex Differentiation. Sources: Expert Review\nMode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RPL10 were set to 25316788; 26290468; 25846674; 29066376\nPhenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 (MIM#300998)\nReview for gene: RPL10 was set to GREEN\nAdded comment: At least 3 variants have been reported. Urogenital anomalies are a feature of the associated condition.\r\n\r\nPMID: 25316788: Variant reported in 3 members of a family. Genitourinary abnormalities (ie cryptorchidism) reported in all 3 affected individuals.\r\n\r\nPMID: 26290468: Reported in a family with two affected cousins presenting with X-linked ID, cerebellar hypoplasia, and spondylo-epiphyseal dysplasia. Only one of the affected males presented with cryptorchidism.\r\n\r\nPMID: 25846674: 3 of 4 affected males in the family presented with urogenital anomalies \nSources: Expert Review","entity_name":"RPL10","entity_type":"gene"},{"created":"2020-07-13T13:17:47.772134+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Crystle Lee","item_type":"entity","text":"gene: SAMD9 was added\ngene: SAMD9 was added to Disorders of Sex Differentiation. Sources: Expert Review\nMode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SAMD9 were set to 27182967\nPhenotypes for gene: SAMD9 were set to MIRAGE syndrome\t(MIM#617053)\nReview for gene: SAMD9 was set to GREEN\nAdded comment: At least 10 families ( 8 diff variants) reported in one publication. External genital abnormalities observed in all 46, XY patients. \nSources: Expert Review","entity_name":"SAMD9","entity_type":"gene"},{"created":"2020-07-13T13:08:26.248553+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Crystle Lee","item_type":"entity","text":"gene: SEMA3E was added\ngene: SEMA3E was added to Disorders of Sex Differentiation. Sources: Expert Review\nMode of inheritance for gene: SEMA3E was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEMA3E were set to 25985275\nPhenotypes for gene: SEMA3E were set to ?CHARGE syndrome (MIM#214800)\nReview for gene: SEMA3E was set to RED\nAdded comment: Only one variant reported in 2 sibling with Kallman syndrome. Mouse model supports involvement of this gene with the phenotype. Variant not present in gnomad in homozygosity. \nSources: Expert Review","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2020-07-13T13:01:00.723332+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZIC3 as ready","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-13T13:01:00.716501+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zic3 has been classified as Red List (Low Evidence).","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-13T13:00:57.904896+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZIC3 were changed from  to Heterotaxy, visceral, 1, X-linked, MIM# 306955; VACTERL association, X-linked, MIM# 314390","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-13T13:00:35.549143+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-13T13:00:15.542532+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZIC3 as Red List (low evidence)","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-13T13:00:15.535677+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zic3 has been classified as Red List (Low Evidence).","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-13T12:59:52.301261+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 1, X-linked, MIM# 306955, VACTERL association, X-linked, MIM# 314390; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-13T12:58:07.475088+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Crystle Lee","item_type":"entity","text":"gene: SGPL1 was added\ngene: SGPL1 was added to Disorders of Sex Differentiation. Sources: Expert Review\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to 28165339; 28165343; 28181337\nPhenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14\t(MIM#617575)\nReview for gene: SGPL1 was set to GREEN\nAdded comment: >5 families reported. Cryptorchidism and hypogonadism are features of the associated phenotype. \nSources: Expert Review","entity_name":"SGPL1","entity_type":"gene"},{"created":"2020-07-13T12:53:43.969696+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VAMP1 as ready","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-07-13T12:53:43.959771+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vamp1 has been classified as Green List (High Evidence).","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-07-13T12:53:39.861560+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VAMP1 as Green List (high evidence)","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-07-13T12:53:39.855453+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vamp1 has been classified as Green List (High Evidence).","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-07-13T12:53:16.981058+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VAMP1 was added\ngene: VAMP1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VAMP1 were set to 28253535\nPhenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM#\t618323\nReview for gene: VAMP1 was set to GREEN\nAdded comment: Severe neonatal hypotonia and joint laxity, though joint contractures described in some affected individuals. \nSources: Expert list","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-07-13T12:48:14.402737+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UNC80 as ready","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-07-13T12:48:14.392443+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc80 has been classified as Red List (Low Evidence).","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-07-13T12:48:08.807339+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC80 were changed from  to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-07-13T12:47:44.892642+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UNC80 were set to ","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-07-13T12:47:19.428943+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-07-13T12:46:57.409358+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UNC80 as Red List (low evidence)","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-07-13T12:46:57.402773+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc80 has been classified as Red List (Low Evidence).","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-07-13T12:46:31.927367+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UNC80: Rating: RED; Mode of pathogenicity: None; Publications: 26545877, 26708753, 26708751; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-07-13T12:44:54.574892+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.362","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643381, 24845202; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SOX10","entity_type":"gene"},{"created":"2020-07-13T12:37:30.305305+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Crystle Lee","item_type":"entity","text":"gene: SOX10 was added\ngene: SOX10 was added to Disorders of Sex Differentiation. Sources: Expert Review\nMode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOX10 were set to 23643381; 15004559\nPhenotypes for gene: SOX10 were set to PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)\nMode of pathogenicity for gene: SOX10 was set to Other\nReview for gene: SOX10 was set to GREEN\nAdded comment: Well reported gene disease association. Cryptorchidism and hypogonadism is a feature of Kallman Syndrome and WS4C\r\n\r\nPMID: 23643381: Reported 6 variants in individuals with Kallman syndrome which is associated with hypogonadotropic hypogonadism. Functional studies performed. \r\n\r\nPMID: 15004559: PCWH is caused by dominant-negative mutations (truncating variants) whereas NMD and thus haploinsufficiency results in WS4C \nSources: Expert Review","entity_name":"SOX10","entity_type":"gene"},{"created":"2020-07-13T11:56:24.798589+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTN as ready","entity_name":"TTN","entity_type":"gene"},{"created":"2020-07-13T11:56:24.790771+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttn has been classified as Green List (High Evidence).","entity_name":"TTN","entity_type":"gene"},{"created":"2020-07-13T11:56:19.855234+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TTN as Green List (high evidence)","entity_name":"TTN","entity_type":"gene"},{"created":"2020-07-13T11:56:19.844350+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttn has been classified as Green List (High Evidence).","entity_name":"TTN","entity_type":"gene"},{"created":"2020-07-13T11:42:50.222140+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19079066, 20332248, 23329188, 22031817; Phenotypes: Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAC3","entity_type":"gene"},{"created":"2020-07-13T11:00:49.193062+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTN was added\ngene: TTN was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTN were set to 24105469; 31660661; 29575618; 28040389\nPhenotypes for gene: TTN were set to Salih myopathy; Muscular dystrophy, limb-girdle, autosomal recessive 10\nReview for gene: TTN was set to GREEN\nAdded comment: By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures. \r\nBryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.\r\nTwo families with AMC and biallelic truncating mutations in 29575618; 28040389. \nSources: Expert list","entity_name":"TTN","entity_type":"gene"},{"created":"2020-07-13T10:56:10.847466+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIP4","entity_type":"gene"},{"created":"2020-07-13T09:06:03.849059+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Crystle Lee","item_type":"entity","text":"gene: TOE1 was added\ngene: TOE1 was added to Disorders of Sex Differentiation. Sources: Expert Review\nMode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOE1 were set to 28092684\nPhenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7 (MIM#614969)\nReview for gene: TOE1 was set to GREEN\nAdded comment: >10 families with pontocerebellar hypoplasia type 7 (PCH7) reported with biallelic variants.MRI showed reduced cerebellar volume in these families. Ambiguous genitalia is a feature of this condition. \nSources: Expert Review","entity_name":"TOE1","entity_type":"gene"},{"created":"2020-07-13T09:03:25.539245+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.140","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7 (MIM#614969); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOE1","entity_type":"gene"},{"created":"2020-07-13T08:51:57.053927+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 19463995, 22137496, 25449952, 16418600; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSPYL1","entity_type":"gene"},{"created":"2020-07-12T21:08:08.094444+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX22 as ready","entity_name":"TBX22","entity_type":"gene"},{"created":"2020-07-12T21:08:08.084929+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx22 has been classified as Red List (Low Evidence).","entity_name":"TBX22","entity_type":"gene"},{"created":"2020-07-12T21:08:05.757262+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX22 were changed from  to Cleft palate with ankyloglossia, MIM# 303400","entity_name":"TBX22","entity_type":"gene"},{"created":"2020-07-12T21:07:42.139456+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBX22 as Red List (low evidence)","entity_name":"TBX22","entity_type":"gene"},{"created":"2020-07-12T21:07:42.132717+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx22 has been classified as Red List (Low Evidence).","entity_name":"TBX22","entity_type":"gene"},{"created":"2020-07-12T21:07:19.473978+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleft palate with ankyloglossia, MIM# 303400; Mode of inheritance: None","entity_name":"TBX22","entity_type":"gene"},{"created":"2020-07-12T21:00:38.818473+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAC3 as ready","entity_name":"STAC3","entity_type":"gene"},{"created":"2020-07-12T21:00:38.800731+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stac3 has been classified as Green List (High Evidence).","entity_name":"STAC3","entity_type":"gene"},{"created":"2020-07-12T21:00:34.649229+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STAC3 as Green List (high evidence)","entity_name":"STAC3","entity_type":"gene"},{"created":"2020-07-12T21:00:34.642176+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stac3 has been classified as Green List (High Evidence).","entity_name":"STAC3","entity_type":"gene"},{"created":"2020-07-12T21:00:08.466694+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAC3 was added\ngene: STAC3 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAC3 were set to 23736855; 30168660; 28777491\nPhenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM#\t255995\nReview for gene: STAC3 was set to GREEN\nAdded comment: Arthrogryposis is part of the phenotype. \nSources: Expert list","entity_name":"STAC3","entity_type":"gene"},{"created":"2020-07-12T20:56:09.211357+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMN1 as ready","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-07-12T20:56:09.204666+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smn1 has been classified as Green List (High Evidence).","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-07-12T20:56:05.195632+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMN1 as Green List (high evidence)","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-07-12T20:56:05.185882+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smn1 has been classified as Green List (High Evidence).","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-07-12T20:55:42.179777+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMN1 was added\ngene: SMN1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMN1 were set to Spinal muscular atrophy, type 0\nReview for gene: SMN1 was set to GREEN\nAdded comment: Most severe end of the spectrum can present with arthrogryposis. \nSources: Expert list","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-07-12T20:46:38.274276+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-07-12T20:46:35.435908+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SLC9A6: Contractures are reported but condition does not","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-07-12T20:45:56.589006+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A6 as ready","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-07-12T20:45:56.581025+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a6 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-07-12T20:45:11.997839+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC9A6 were changed from  to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-07-12T20:44:51.450308+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-07-12T20:44:26.376603+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC9A6 as Amber List (moderate evidence)","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-07-12T20:44:26.366756+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a6 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-07-12T20:44:03.140388+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-07-12T20:37:58.712714+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A9 as ready","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2020-07-12T20:37:58.704508+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a9 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2020-07-12T20:37:54.159276+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC6A9 as Amber List (moderate evidence)","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2020-07-12T20:37:54.152350+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a9 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2020-07-12T20:37:40.619312+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC6A9 as Green List (high evidence)","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2020-07-12T20:37:40.611585+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a9 has been classified as Green List (High Evidence).","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2020-07-12T20:37:16.554161+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A9 was added\ngene: SLC6A9 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A9 were set to 27773429; 27481395\nPhenotypes for gene: SLC6A9 were set to Glycine encephalopathy with normal serum glycine, MIM#617301; arthrogryposis\nReview for gene: SLC6A9 was set to AMBER\nAdded comment: Two of the reported families have had arthrogryposis as a manifesting feature. \nSources: Expert list","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2020-07-12T20:28:17.020812+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC18A3 as ready","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-07-12T20:28:17.013611+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc18a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-07-12T20:28:12.704996+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC18A3 as Amber List (moderate evidence)","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-07-12T20:28:12.693209+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc18a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-07-12T20:27:41.303410+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC18A3 was added\ngene: SLC18A3 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A3 were set to 28188302; 27590285; 31059209\nPhenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis\nReview for gene: SLC18A3 was set to AMBER\nAdded comment: Two of four families presented with fetal akinesia and arthrogryposis. \nSources: Expert list","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-07-12T20:04:59.215467+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBM10 as ready","entity_name":"RBM10","entity_type":"gene"},{"created":"2020-07-12T20:04:59.207977+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbm10 has been classified as Red List (Low Evidence).","entity_name":"RBM10","entity_type":"gene"},{"created":"2020-07-12T20:04:47.741633+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBM10 were changed from  to TARP syndrome, MIM# 311900","entity_name":"RBM10","entity_type":"gene"},{"created":"2020-07-12T20:04:25.045568+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RBM10","entity_type":"gene"},{"created":"2020-07-12T20:04:04.344624+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RBM10 as Red List (low evidence)","entity_name":"RBM10","entity_type":"gene"},{"created":"2020-07-12T20:04:04.334997+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbm10 has been classified as Red List (Low Evidence).","entity_name":"RBM10","entity_type":"gene"},{"created":"2020-07-12T20:03:40.661940+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RBM10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: TARP syndrome, MIM# 311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RBM10","entity_type":"gene"},{"created":"2020-07-12T19:59:54.209706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3303","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIP5K1C as ready","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:59:54.200178+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3303","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pip5k1c has been classified as Amber List (Moderate Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:59:48.329263+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3303","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIP5K1C were changed from  to Lethal congenital contractural syndrome 3, MIM# 611369","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:59:32.636408+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3302","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIP5K1C were set to ","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:59:17.771054+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3301","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIP5K1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:59:03.376102+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3300","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIP5K1C as Amber List (moderate evidence)","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:59:03.366165+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pip5k1c has been classified as Amber List (Moderate Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:58:47.716798+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3299","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701898; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:55:53.048911+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIP5K1C as ready","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:55:53.041765+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pip5k1c has been classified as Amber List (Moderate Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:55:50.168037+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIP5K1C were changed from  to Lethal congenital contractural syndrome 3, MIM# 611369","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:55:27.993621+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIP5K1C were set to ","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:55:06.213688+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIP5K1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-07-12T19:54:46.409169+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIP5K1C as Amber List (moderate evidence)","entity_name":"PIP5K1C","entity_type":"gene"}]}