{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1742","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1740","results":[{"created":"2020-07-06T18:59:57.498851+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ofd1 has been classified as Amber List (Moderate Evidence).","entity_name":"OFD1","entity_type":"gene"},{"created":"2020-07-06T18:59:28.670466+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OFD1: Changed publications: 31373179","entity_name":"OFD1","entity_type":"gene"},{"created":"2020-07-06T18:59:00.680248+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel.; to: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel. However, note 3 individuals reported with PCD phenotype.","entity_name":"OFD1","entity_type":"gene"},{"created":"2020-07-06T18:58:44.033261+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OFD1: Changed phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200, Primary ciliary dyskinesia","entity_name":"OFD1","entity_type":"gene"},{"created":"2020-07-06T18:58:30.066638+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OFD1: Changed rating: AMBER","entity_name":"OFD1","entity_type":"gene"},{"created":"2020-07-06T18:55:48.657892+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3255","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPA1 as ready","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:55:48.647870+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpa1 has been classified as Amber List (Moderate Evidence).","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:55:41.599285+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3255","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SFTPA1 were changed from  to Idiopathic pulmonary fibrosis","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:55:23.782141+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3254","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPA1 were set to ","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:55:06.223952+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3253","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SFTPA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:54:49.223113+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3252","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SFTPA1 as Amber List (moderate evidence)","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:54:49.211078+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3252","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpa1 has been classified as Amber List (Moderate Evidence).","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:54:31.568019+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3251","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SFTPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31601679, 30854216, 28869238, 26792177; Phenotypes: Idiopathic pulmonary fibrosis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:52:23.387612+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPA1 as ready","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:52:23.377536+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpa1 has been classified as Amber List (Moderate Evidence).","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:52:19.027048+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SFTPA1 as Amber List (moderate evidence)","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:52:19.014876+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpa1 has been classified as Amber List (Moderate Evidence).","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:51:29.483009+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SFTPA1 was added\ngene: SFTPA1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: SFTPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SFTPA1 were set to 31601679; 30854216; 28869238; 26792177\nPhenotypes for gene: SFTPA1 were set to Idiopathic pulmonary fibrosis\nReview for gene: SFTPA1 was set to AMBER\nAdded comment: Four families and a mouse model, bi-allelic disease appears to be more severe, earlier onset. \nSources: Literature","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2020-07-06T18:40:46.238476+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3251","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFAP74 as ready","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T18:40:46.228800+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap74 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T18:40:38.236723+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3251","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP74 as Amber List (moderate evidence)","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T18:40:38.224221+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap74 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T18:40:19.364196+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3250","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFAP74 was added\ngene: CFAP74 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP74 were set to 32555313\nPhenotypes for gene: CFAP74 were set to Primary ciliary dyskinesia; infertility\nReview for gene: CFAP74 was set to AMBER\nAdded comment: Two unrelated individuals with compound het missense variants reported. \nSources: Literature","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T18:38:55.876694+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFAP74 as ready","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T18:38:55.862558+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap74 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T18:38:52.598162+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP74 as Amber List (moderate evidence)","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T18:38:52.585426+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap74 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T18:38:22.913349+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFAP74 was added\ngene: CFAP74 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP74 were set to 32555313\nPhenotypes for gene: CFAP74 were set to Primary ciliary dyskinesia; infertility\nReview for gene: CFAP74 was set to AMBER\nAdded comment: Two unrelated individuals with compound het missense variants reported. \nSources: Literature","entity_name":"CFAP74","entity_type":"gene"},{"created":"2020-07-06T17:44:02.635821+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:STUB1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-06T17:42:55.255036+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STUB1 as Green List (high evidence)","entity_name":"STUB1","entity_type":"gene"},{"created":"2020-07-06T17:42:55.240587+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stub1 has been classified as Green List (High Evidence).","entity_name":"STUB1","entity_type":"gene"},{"created":"2020-07-06T17:42:47.450826+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STUB1 was added\ngene: STUB1 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STUB1 were set to 32342324; 32337344\nPhenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, MIM#\t615768\nReview for gene: STUB1 was set to GREEN\nAdded comment: PMID: 32342324 - Gene causes both AD and AR spinocerebellar ataxia. Reviews 17 families (31 patients, adolescent/childhood onset), all patients developed progressive cerebellar ataxia, associated with dysmetria and dysarthria, corticospinal signs (19/31), myoclonus (7/31) and generalized tonic– clonic seizures (4/31), peripheral nervous system involvement (4/12). PMID: 32337344 - 1 large family with adult-onset gait disturbance and cognitive decline. Neuropathy is a feature of the more severe, bi-allelic disorder. \nSources: Literature","entity_name":"STUB1","entity_type":"gene"},{"created":"2020-07-06T17:39:52.894151+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STUB1 as Green List (high evidence)","entity_name":"STUB1","entity_type":"gene"},{"created":"2020-07-06T17:39:52.879787+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stub1 has been classified as Green List (High Evidence).","entity_name":"STUB1","entity_type":"gene"},{"created":"2020-07-06T17:25:30.156685+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.70","user_name":"Michelle Torres","item_type":"entity","text":"gene: TOR1A was added\ngene: TOR1A was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1A were set to PMID: 30244176\nPhenotypes for gene: TOR1A were set to Arthrogryposis\nReview for gene: TOR1A was set to GREEN\nAdded comment: 5 patients reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM). \nSources: Literature","entity_name":"TOR1A","entity_type":"gene"},{"created":"2020-07-06T17:06:54.880174+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SREBF1 as ready","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T17:06:54.870606+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srebf1 has been classified as Green List (High Evidence).","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T17:06:50.670271+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SREBF1 as Green List (high evidence)","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T17:06:50.660853+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srebf1 has been classified as Green List (High Evidence).","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T17:06:22.314917+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SREBF1 was added\ngene: SREBF1 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SREBF1 were set to 32497488\nPhenotypes for gene: SREBF1 were set to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome\nReview for gene: SREBF1 was set to GREEN\nAdded comment: 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. 3 different msisense variants identified affecting the same region (residues 527, 528, and 530). Functional studies support impaired function (impaired nuclear translocation of the transcriptionally active form of SREBP1 resulting in lower expression of the SREBP1 variants). Increased keratinocyte apoptosis was observed in patient scalp samples. \nSources: Literature","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T17:01:22.467780+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASPRV1 as ready","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T17:01:22.457881+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asprv1 has been classified as Green List (High Evidence).","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T17:01:18.054305+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASPRV1 as Green List (high evidence)","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T17:01:18.041416+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asprv1 has been classified as Green List (High Evidence).","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T17:00:41.570466+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASPRV1 as ready","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T17:00:41.561153+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asprv1 has been classified as Green List (High Evidence).","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T17:00:22.640645+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3249","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASPRV1 as Green List (high evidence)","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T17:00:22.626765+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asprv1 has been classified as Green List (High Evidence).","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T16:42:16.350599+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.7","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: ASPRV1 was added\ngene: ASPRV1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: ASPRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASPRV1 were set to PMID: 32516568\nPhenotypes for gene: ASPRV1 were set to palmoplantar keratoderma; lamellar ichthyosis\nReview for gene: ASPRV1 was set to GREEN\ngene: ASPRV1 was marked as current diagnostic\nAdded comment: -3 heterozygous missense variants identified across 4 unrelated kindreds\r\n-mutant ASPRV1 expressed in human keratinocytes suggests impaired filaggrin processing \nSources: Literature","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T16:40:33.299943+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3248","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: ASPRV1 was added\ngene: ASPRV1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ASPRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASPRV1 were set to PMID: 32516568\nPhenotypes for gene: ASPRV1 were set to palmoplantar keratoderma; lamellar ichthyosis\nReview for gene: ASPRV1 was set to GREEN\ngene: ASPRV1 was marked as current diagnostic\nAdded comment: -3 heterozygous missense variants identified across 4 unrelated kindreds\r\n-mutant ASPRV1 expressed in human keratinocytes suggests impaired filaggrin processing \nSources: Literature","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T16:39:50.966923+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-CO3 as ready","entity_name":"MT-CO3","entity_type":"gene"},{"created":"2020-07-06T16:39:50.947334+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-co3 has been classified as Green List (High Evidence).","entity_name":"MT-CO3","entity_type":"gene"},{"created":"2020-07-06T16:39:46.966543+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MT-CO3 as Green List (high evidence)","entity_name":"MT-CO3","entity_type":"gene"},{"created":"2020-07-06T16:39:46.953932+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-co3 has been classified as Green List (High Evidence).","entity_name":"MT-CO3","entity_type":"gene"},{"created":"2020-07-06T16:37:57.767303+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3248","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LGR4 as ready","entity_name":"LGR4","entity_type":"gene"},{"created":"2020-07-06T16:37:57.757941+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3248","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lgr4 has been classified as Amber List (Moderate Evidence).","entity_name":"LGR4","entity_type":"gene"},{"created":"2020-07-06T16:37:44.622850+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3248","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LGR4 were set to ","entity_name":"LGR4","entity_type":"gene"},{"created":"2020-07-06T16:37:23.534025+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3247","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LGR4 were changed from  to Delayed puberty","entity_name":"LGR4","entity_type":"gene"},{"created":"2020-07-06T16:35:45.817069+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASPRV1 as ready","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T16:35:45.806678+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asprv1 has been classified as Green List (High Evidence).","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T16:35:30.544207+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASPRV1 as Green List (high evidence)","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T16:35:30.526376+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asprv1 has been classified as Green List (High Evidence).","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T16:34:44.353789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3246","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SREBF1 as ready","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T16:34:44.344690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3246","user_name":"Seb Lunke","item_type":"entity","text":"Gene: srebf1 has been classified as Green List (High Evidence).","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T16:34:32.393222+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3246","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SREBF1 as Green List (high evidence)","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T16:34:32.379091+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3246","user_name":"Seb Lunke","item_type":"entity","text":"Gene: srebf1 has been classified as Green List (High Evidence).","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T16:34:31.465179+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCE as ready","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:34:31.449236+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:34:30.115935+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2736","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: CNOT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32553196; Phenotypes: Neurodevelopmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"CNOT1","entity_type":"gene"},{"created":"2020-07-06T16:34:15.972929+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBCE as Green List (high evidence)","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:34:15.957526+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:33:41.550778+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCE as ready","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:33:41.537751+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:33:37.507354+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBCE as Green List (high evidence)","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:33:37.497608+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:32:38.485752+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3245","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: BTG4 as ready","entity_name":"BTG4","entity_type":"gene"},{"created":"2020-07-06T16:32:38.474204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3245","user_name":"Seb Lunke","item_type":"entity","text":"Gene: btg4 has been classified as Green List (High Evidence).","entity_name":"BTG4","entity_type":"gene"},{"created":"2020-07-06T16:32:21.651726+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3245","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: BTG4 as Green List (high evidence)","entity_name":"BTG4","entity_type":"gene"},{"created":"2020-07-06T16:32:21.642140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3245","user_name":"Seb Lunke","item_type":"entity","text":"Gene: btg4 has been classified as Green List (High Evidence).","entity_name":"BTG4","entity_type":"gene"},{"created":"2020-07-06T16:28:41.985091+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3244","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: TRIP13 as ready","entity_name":"TRIP13","entity_type":"gene"},{"created":"2020-07-06T16:28:41.972685+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3244","user_name":"Seb Lunke","item_type":"entity","text":"Gene: trip13 has been classified as Green List (High Evidence).","entity_name":"TRIP13","entity_type":"gene"},{"created":"2020-07-06T16:28:13.944855+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3244","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LGR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LGR4","entity_type":"gene"},{"created":"2020-07-06T16:27:44.415763+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3243","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LGR4 as Amber List (moderate evidence)","entity_name":"LGR4","entity_type":"gene"},{"created":"2020-07-06T16:27:44.402138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lgr4 has been classified as Amber List (Moderate Evidence).","entity_name":"LGR4","entity_type":"gene"},{"created":"2020-07-06T16:24:15.386624+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: At least 6 male cases in 5 unrelated families reported with hydrocephalus with Hirchsprung disease. \nSources: Expert list; to: At least 6 male cases in 5 unrelated families reported with hydrocephalus and Hirchsprung disease/intestinal pseudo-obstruction. \r\nSources: Expert list","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-07-06T16:15:13.952809+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMB1 as ready","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-07-06T16:15:13.939264+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb1 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-07-06T16:15:10.557040+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMB1 as Amber List (moderate evidence)","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-07-06T16:15:10.547529+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb1 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-07-06T16:15:02.304307+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMB1 was added\ngene: LAMB1 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMB1 were set to 29888467; 25925986\nPhenotypes for gene: LAMB1 were set to Cystic leukoencephalopathy\nReview for gene: LAMB1 was set to AMBER\nAdded comment: Two unrelated families reported with cystic leukoencephalopathy and bi-allelic variants in this gene. Also note adult-onset leukodystrophy reported in one individual. \nSources: Literature","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-07-06T16:12:01.061048+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: L1CAM as ready","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-07-06T16:12:01.047167+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: l1cam has been classified as Green List (High Evidence).","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-07-06T16:11:57.037095+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: L1CAM as Green List (high evidence)","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-07-06T16:11:57.027550+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: l1cam has been classified as Green List (High Evidence).","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-07-06T16:11:48.712868+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"gene: L1CAM was added\ngene: L1CAM was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: L1CAM were set to 9279760; 11857550; 15148591; 15368500; 22354677\nPhenotypes for gene: L1CAM were set to Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000\nReview for gene: L1CAM was set to GREEN\nAdded comment: At least 6 male cases in 5 unrelated families reported with hydrocephalus with Hirchsprung disease. \nSources: Expert list","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-07-06T16:09:16.831511+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.125","user_name":"Elena Savva","item_type":"entity","text":"gene: TBCE was added\ngene: TBCE was added to Regression. Sources: Literature\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to PMID: 27666369\nPhenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy 617207\nReview for gene: TBCE was set to GREEN\nAdded comment: PMID: 27666369 - 6 patients (4 families) with early-onset, progressive neurodegeneration encephalopathy with spinal muscular atrophy, supported by functional studies. Patients present within the first 18 months of life, phenotypes include hypotonia (3/6), dev delay (6/6), signs of regression (6/6, distal amyotrophy, ataxia, spasticity)\r\nMissense variant p.I155N is recurring, very rare in gnomAD. \nSources: Literature","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:07:37.213962+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.79","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: ASPRV1 was added\ngene: ASPRV1 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: ASPRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASPRV1 were set to PMID: 32516568\nPhenotypes for gene: ASPRV1 were set to palmoplantar keratoderma; lamellar ichthyosis\nReview for gene: ASPRV1 was set to GREEN\ngene: ASPRV1 was marked as current diagnostic\nAdded comment: -3 heterozygous missense variants identified across 4 unrelated kindreds\r\n-mutant ASPRV1 expressed in human keratinocytes suggests impaired filaggrin processing \nSources: Literature","entity_name":"ASPRV1","entity_type":"gene"},{"created":"2020-07-06T16:06:07.241534+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3242","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SREBF1 was added\ngene: SREBF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SREBF1 were set to 32497488\nPhenotypes for gene: SREBF1 were set to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome\nReview for gene: SREBF1 was set to GREEN\ngene: SREBF1 was marked as current diagnostic\nAdded comment: 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. 3 different msisense variants identified affecting the same region (residues 527, 528, and 530). Functional studies support impaired function (impaired nuclear translocation of the transcriptionally active form of SREBP1 resulting in lower expression of the SREBP1 variants). Increased keratinocyte apoptosis was observed in patient scalp samples. \nSources: Literature","entity_name":"SREBF1","entity_type":"gene"},{"created":"2020-07-06T16:05:08.910643+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.110","user_name":"Elena Savva","item_type":"entity","text":"gene: TBCE was added\ngene: TBCE was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to PMID: 27666369\nPhenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy\t617207\nReview for gene: TBCE was set to GREEN\nAdded comment: PMID: 27666369 - 6 patients (4 families) with early-onset, progressive neurodegeneration encephalopathy with spinal muscular atrophy, supported by functional studies.\r\nPatients present within the first 18 months of life, phenotypes include hypotonia (3/6), dev delay (6/6), signs of regression (6/6, distal amyotrophy, ataxia, spasticity)\r\n\r\nMissense variant p.I155N is recurring, very rare in gnomAD. \nSources: Expert list","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-07-06T16:04:44.721689+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3242","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: CNOT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32553196; Phenotypes: Neurodevelopmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"CNOT1","entity_type":"gene"}]}