{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1949","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1947","results":[{"created":"2020-02-01T16:05:09.447347+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1865","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cntn3 has been classified as Red List (Low Evidence).","entity_name":"CNTN3","entity_type":"gene"},{"created":"2020-02-01T16:04:28.234041+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1864","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CNTN3: Rating: RED; Mode of pathogenicity: None; Publications: 28600779; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNTN3","entity_type":"gene"},{"created":"2020-02-01T16:01:23.110344+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1864","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPP as ready","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-02-01T16:01:23.099708+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1864","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpp has been classified as Red List (Low Evidence).","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-02-01T16:01:09.843087+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1864","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPP were changed from  to Perrault syndrome 3, MIM# 614129","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-02-01T15:58:03.975921+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1863","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLPP were set to ","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-02-01T15:57:31.227716+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1862","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-02-01T15:56:49.840365+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1861","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLPP as Red List (low evidence)","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-02-01T15:56:49.829795+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1861","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpp has been classified as Red List (Low Evidence).","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-02-01T15:56:11.794835+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1860","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLPP: Rating: RED; Mode of pathogenicity: None; Publications: 23541340; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-02-01T15:33:42.258915+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1860","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNA4 as ready","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2020-02-01T15:33:42.248360+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1860","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna4 has been classified as Red List (Low Evidence).","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2020-02-01T15:33:26.317014+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1860","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNA4 were set to ","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2020-02-01T14:58:40.289679+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1859","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNA4 were changed from  to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2020-02-01T14:57:09.458739+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1858","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2020-02-01T14:56:24.551646+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1857","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHRNA4 as Red List (low evidence)","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2020-02-01T14:56:24.541281+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna4 has been classified as Red List (Low Evidence).","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2020-02-01T14:55:45.069623+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1856","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNA4: Rating: RED; Mode of pathogenicity: None; Publications: 14623738; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2020-02-01T14:46:41.793502+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1856","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CHD1: Added comment: Possible dominant negative mechanism: reported variants are missense, an individual with a deletion did not have a neurological phenotype.; Changed mode of pathogenicity: Other","entity_name":"CHD1","entity_type":"gene"},{"created":"2020-02-01T14:41:46.908738+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP104 as ready","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:41:46.898536+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep104 has been classified as Green List (High Evidence).","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:41:35.615244+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP104 as Green List (high evidence)","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:41:35.605056+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep104 has been classified as Green List (High Evidence).","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:40:59.345715+11:00","panel_name":"Joubert syndrome and other cerebellar malformations","panel_id":129,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP104 was added\ngene: CEP104 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list\nMode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP104 were set to 26477546\nPhenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781\nReview for gene: CEP104 was set to GREEN\nAdded comment: Three unrelated individuals reported, ID is part of the phenotype. \nSources: Expert list","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:40:22.679048+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1856","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP104 as ready","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:40:22.668415+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1856","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep104 has been classified as Green List (High Evidence).","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:39:44.882221+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1856","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP104 as Green List (high evidence)","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:39:44.858164+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1856","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep104 has been classified as Green List (High Evidence).","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:38:14.648252+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1855","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP104 was added\ngene: CEP104 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP104 were set to 26477546\nPhenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781\nReview for gene: CEP104 was set to GREEN\nAdded comment: Three unrelated individuals reported, ID is part of the phenotype. \nSources: Expert list","entity_name":"CEP104","entity_type":"gene"},{"created":"2020-02-01T14:29:59.304597+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1854","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN1C as ready","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-02-01T14:29:59.293425+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn1c has been classified as Amber List (Moderate Evidence).","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-02-01T14:29:21.262499+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1854","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDKN1C were changed from  to IMAGE syndrome, MIM# 614732","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-02-01T14:28:33.544542+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1853","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-02-01T14:27:38.199075+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1852","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDKN1C as Amber List (moderate evidence)","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-02-01T14:27:38.188213+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1852","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn1c has been classified as Amber List (Moderate Evidence).","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-02-01T14:26:58.772586+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1851","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: IMAGE syndrome, MIM# 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-02-01T14:22:03.508645+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK5R1 as ready","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:22:03.497888+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5r1 has been classified as Red List (Low Evidence).","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:21:50.617099+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1133","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:21:17.117870+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDK5R1 were changed from  to Intellectual disability; autism","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:20:20.592975+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1131","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDK5R1 were set to ","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:18:56.373998+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDK5R1 as Red List (low evidence)","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:18:56.363957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5r1 has been classified as Red List (Low Evidence).","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:18:17.684066+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1129","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:18:02.840520+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1851","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK5R1 as ready","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:18:02.829961+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1851","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5r1 has been classified as Red List (Low Evidence).","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:16:49.855615+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1851","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDK5R1 were changed from  to Intellectual disability; autism","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:16:12.700080+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1850","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDK5R1 were set to ","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:15:38.101646+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1849","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:15:00.926657+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1848","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDK5R1 as Red List (low evidence)","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:15:00.916315+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1848","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5r1 has been classified as Red List (Low Evidence).","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:14:24.429778+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2020-02-01T14:05:00.543706+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC88A as ready","entity_name":"CCDC88A","entity_type":"gene"},{"created":"2020-02-01T14:05:00.532909+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc88a has been classified as Green List (High Evidence).","entity_name":"CCDC88A","entity_type":"gene"},{"created":"2020-02-01T14:04:45.269964+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC88A were changed from  to PEHO syndrome-like, MIM# 617507","entity_name":"CCDC88A","entity_type":"gene"},{"created":"2020-02-01T13:28:25.763195+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCDC88A were set to ","entity_name":"CCDC88A","entity_type":"gene"},{"created":"2020-02-01T12:11:25.129064+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1845","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC88A","entity_type":"gene"},{"created":"2020-02-01T11:53:21.986139+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1844","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, MIM# 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC88A","entity_type":"gene"},{"created":"2020-02-01T11:38:51.546821+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1844","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARS2 as ready","entity_name":"CARS2","entity_type":"gene"},{"created":"2020-02-01T11:38:51.536545+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cars2 has been classified as Green List (High Evidence).","entity_name":"CARS2","entity_type":"gene"},{"created":"2020-02-01T11:38:39.103504+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1844","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CARS2 as Green List (high evidence)","entity_name":"CARS2","entity_type":"gene"},{"created":"2020-02-01T11:38:39.093080+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cars2 has been classified as Green List (High Evidence).","entity_name":"CARS2","entity_type":"gene"},{"created":"2020-02-01T11:37:44.331886+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1843","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CARS2 was added\ngene: CARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARS2 were set to 30139652; 25787132\nPhenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, MIM#616672\nReview for gene: CARS2 was set to GREEN\nAdded comment: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype. \nSources: Expert list","entity_name":"CARS2","entity_type":"gene"},{"created":"2020-02-01T11:28:38.831304+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1842","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CANT1 as ready","entity_name":"CANT1","entity_type":"gene"},{"created":"2020-02-01T11:28:38.820157+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1842","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cant1 has been classified as Red List (Low Evidence).","entity_name":"CANT1","entity_type":"gene"},{"created":"2020-02-01T11:28:27.501574+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1842","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CANT1 were changed from  to Desbuquois dysplasia 1, MIM# 251450","entity_name":"CANT1","entity_type":"gene"},{"created":"2020-02-01T11:27:50.214331+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1841","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CANT1","entity_type":"gene"},{"created":"2020-02-01T11:26:11.284100+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1840","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CANT1 as Red List (low evidence)","entity_name":"CANT1","entity_type":"gene"},{"created":"2020-02-01T11:26:11.273755+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1840","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cant1 has been classified as Red List (Low Evidence).","entity_name":"CANT1","entity_type":"gene"},{"created":"2020-02-01T11:25:29.137956+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1839","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CANT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Desbuquois dysplasia 1, MIM# 251450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CANT1","entity_type":"gene"},{"created":"2020-02-01T09:27:56.832948+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIPN as ready","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T09:27:56.822502+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipn has been classified as Red List (Low Evidence).","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T09:27:44.018278+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIPN were changed from  to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T09:27:22.254138+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1128","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LIPN were set to ","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T09:27:00.244346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1127","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T09:26:40.853037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LIPN as Red List (low evidence)","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T09:26:40.842792+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipn has been classified as Red List (Low Evidence).","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T09:26:19.879004+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1125","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T09:19:51.621087+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KLC2 was added\ngene: KLC2 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature\nSV/CNV tags were added to gene: KLC2.\nMode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLC2 were set to 26385635\nPhenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541\nReview for gene: KLC2 was set to RED\nAdded comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. The deletion is not detected by whole-exome sequencing. Later onset of sensorimotor peripheral neuropathy is a feature of the condition. \nSources: Literature","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-02-01T09:08:57.998338+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.62","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-01T08:55:18.641255+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIPN as ready","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T08:55:18.630373+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipn has been classified as Red List (Low Evidence).","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T08:55:03.513066+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIPN were changed from  to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T08:54:25.433959+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LIPN were set to ","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T08:53:48.532643+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T08:53:17.696318+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LIPN as Red List (low evidence)","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T08:53:17.686028+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipn has been classified as Red List (Low Evidence).","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-02-01T08:52:37.370240+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPN","entity_type":"gene"},{"created":"2020-01-31T23:21:56.491565+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1839","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CA5A as ready","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-01-31T23:21:56.481038+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1839","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ca5a has been classified as Red List (Low Evidence).","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-01-31T23:21:49.680997+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1839","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CA5A were changed from  to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-01-31T23:21:15.458077+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1838","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CA5A were set to ","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-01-31T23:08:48.861185+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EBP as ready","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T23:08:48.842176+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ebp has been classified as Green List (High Evidence).","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T23:05:24.465043+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLDN1 as ready","entity_name":"CLDN1","entity_type":"gene"},{"created":"2020-01-31T23:05:24.454666+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cldn1 has been classified as Green List (High Evidence).","entity_name":"CLDN1","entity_type":"gene"},{"created":"2020-01-31T23:05:19.291913+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLDN1 as Green List (high evidence)","entity_name":"CLDN1","entity_type":"gene"},{"created":"2020-01-31T23:05:19.280730+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cldn1 has been classified as Green List (High Evidence).","entity_name":"CLDN1","entity_type":"gene"},{"created":"2020-01-31T23:04:27.845863+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF2H5 as ready","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2020-01-31T23:04:27.835421+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).","entity_name":"GTF2H5","entity_type":"gene"}]}