{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1726","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1724","results":[{"created":"2020-07-18T17:48:25.725229+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24553428, 23181892; Phenotypes: Perrault syndrome 1, MIM# 233400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2020-07-18T17:46:12.711852+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HS6ST1 as ready","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:46:12.699462+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hs6st1 has been classified as Red List (Low Evidence).","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:46:10.313823+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HS6ST1 were changed from  to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:45:46.129929+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HS6ST1 were set to ","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:45:26.172809+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HS6ST1 was changed from Unknown to Other","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:45:05.662396+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HS6ST1 as Red List (low evidence)","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:45:05.654886+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hs6st1 has been classified as Red List (Low Evidence).","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:44:41.182882+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: Other","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:43:39.097900+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3392","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HS6ST1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:43:21.570098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3391","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HS6ST1: Changed mode of inheritance: Other","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:43:04.764223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HS6ST1 as ready","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:43:04.754550+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hs6st1 has been classified as Red List (Low Evidence).","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:42:58.202502+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3391","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HS6ST1 were changed from  to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:42:42.958117+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3390","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HS6ST1 were set to ","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:42:28.414997+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3389","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HS6ST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:42:14.096903+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3388","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HS6ST1 as Red List (low evidence)","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:42:14.087467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hs6st1 has been classified as Red List (Low Evidence).","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:41:58.003024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3387","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:40:37.117608+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HS6ST1 as ready","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:40:37.110207+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hs6st1 has been classified as Red List (Low Evidence).","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:40:31.429825+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HS6ST1 were changed from  to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:40:08.530436+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HS6ST1 were set to ","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:39:52.799037+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HS6ST1 was changed from Unknown to Other","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:39:24.896659+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HS6ST1 as Red List (low evidence)","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:39:24.890040+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hs6st1 has been classified as Red List (Low Evidence).","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:39:01.710084+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: Other","entity_name":"HS6ST1","entity_type":"gene"},{"created":"2020-07-18T17:35:37.840365+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HOXA13 were changed from  to Hand-foot-uterus syndrome, MIM# 140000","entity_name":"HOXA13","entity_type":"gene"},{"created":"2020-07-18T17:35:16.241243+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HOXA13 were set to ","entity_name":"HOXA13","entity_type":"gene"},{"created":"2020-07-18T17:34:01.882492+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HOXA13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOXA13","entity_type":"gene"},{"created":"2020-07-18T17:33:33.042168+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: None; Publications: 10839976, 9020844; Phenotypes: Hand-foot-uterus syndrome, MIM# 140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOXA13","entity_type":"gene"},{"created":"2020-07-18T17:30:08.568754+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HESX1 as ready","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-07-18T17:30:08.561154+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hesx1 has been classified as Green List (High Evidence).","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-07-18T17:30:06.137031+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HESX1 were changed from  to Pituitary hormone deficiency, combined, 5, MIM# 182230","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-07-18T17:29:43.873954+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-07-18T17:29:21.412232+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-07-18T17:27:10.194584+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNRH1 as ready","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:27:10.184163+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnrh1 has been classified as Red List (Low Evidence).","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:27:07.553508+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNRH1 were changed from  to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:26:43.686466+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:26:23.567878+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNRH1 as Red List (low evidence)","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:26:23.561217+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnrh1 has been classified as Red List (Low Evidence).","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:26:01.162890+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNRH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:25:27.056203+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNRH1 as ready","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:25:27.048055+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnrh1 has been classified as Green List (High Evidence).","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:25:21.523605+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNRH1 were changed from  to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:25:05.841824+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3386","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNRH1 were set to ","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:24:10.487413+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3385","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:22:56.606374+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3384","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19535795, 19567835, 32134721, 31200363, 26595427; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:20:11.297576+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNRH1 as ready","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:20:11.289776+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnrh1 has been classified as Green List (High Evidence).","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:20:02.841671+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNRH1 were changed from  to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:19:40.483782+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNRH1 were set to ","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:19:19.229862+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T17:18:56.373975+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19535795, 19567835, 32134721, 31200363, 26595427; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-18T11:40:42.344212+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2776","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF462 were changed from Weiss-Kruszka syndrome; OMIM# 618619 to Weiss-Kruszka syndrome, OMIM# 618619","entity_name":"ZNF462","entity_type":"gene"},{"created":"2020-07-18T11:40:22.798299+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2775","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZNF462 were set to PubMed: 31361404; 28513610","entity_name":"ZNF462","entity_type":"gene"},{"created":"2020-07-17T21:10:46.363726+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3384","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly; Retinitis pigmentosa 89, MIM#618955","entity_name":"KIF3B","entity_type":"gene"},{"created":"2020-07-17T21:10:26.215587+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3383","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIF3B: Changed phenotypes: hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly, Retinitis pigmentosa 89, MIM#618955","entity_name":"KIF3B","entity_type":"gene"},{"created":"2020-07-17T21:10:09.591731+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly; Retinitis pigmentosa 89, MIM#618955","entity_name":"KIF3B","entity_type":"gene"},{"created":"2020-07-17T21:09:41.035514+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIF3B: Changed phenotypes: hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly, Retinitis pigmentosa 89, MIM#618955","entity_name":"KIF3B","entity_type":"gene"},{"created":"2020-07-17T18:00:18.548426+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.756","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUX2 as ready","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T18:00:18.538388+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.756","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cux2 has been classified as Green List (High Evidence).","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T18:00:15.974798+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.756","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CUX2 were changed from  to Epileptic encephalopathy, early infantile, 67, MIM#618141","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T17:59:55.108539+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CUX2 were set to ","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T17:59:33.944092+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.754","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T17:59:09.937682+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.753","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2963073, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, MIM#618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T17:58:01.308800+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3383","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUX2 as ready","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T17:58:01.303511+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3383","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: At least 10 individuals reported with same recurrent de novo missense variant.","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T17:58:01.274009+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cux2 has been classified as Green List (High Evidence).","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T17:57:41.389289+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3383","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CUX2 were changed from  to Epileptic encephalopathy, early infantile, 67, MIM#618141","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T17:57:19.517437+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3382","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CUX2 were set to ","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T17:56:06.464989+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3381","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T13:57:49.079617+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM1 as ready","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:57:49.071614+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm1 has been classified as Green List (High Evidence).","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:57:45.890665+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM1 were changed from  to Congenital disorder of glycosylation, type Ie, MIM# 608799","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:57:21.856481+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM1 were set to ","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:57:00.173523+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:56:37.014950+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23856421, 16641202, 10642602, 10642597; Phenotypes: Congenital disorder of glycosylation, type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:54:56.351075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3380","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM1 as ready","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:54:56.341214+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3380","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm1 has been classified as Green List (High Evidence).","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:54:50.218727+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3380","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM1 were changed from  to Congenital disorder of glycosylation, type Ie, 608799","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:54:34.687356+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3379","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM1 were set to ","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:54:20.060950+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3378","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T13:35:06.526129+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3377","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 2963073, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, 618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"CUX2","entity_type":"gene"},{"created":"2020-07-17T12:40:34.905890+10:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-07-17T12:35:26.669680+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3377","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23856421; Phenotypes: Congenital disorder of glycosylation, type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-07-17T09:55:58.870539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3377","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GIPC1 as ready","entity_name":"GIPC1","entity_type":"gene"},{"created":"2020-07-17T09:55:58.863512+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gipc1 has been classified as Amber List (Moderate Evidence).","entity_name":"GIPC1","entity_type":"gene"},{"created":"2020-07-17T09:55:51.631610+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3377","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GIPC1 as Amber List (moderate evidence)","entity_name":"GIPC1","entity_type":"gene"},{"created":"2020-07-17T09:55:51.621331+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gipc1 has been classified as Amber List (Moderate Evidence).","entity_name":"GIPC1","entity_type":"gene"},{"created":"2020-07-17T09:55:36.272263+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3376","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GIPC1 was added\ngene: GIPC1 was added to Mendeliome. Sources: Literature\n5'UTR, STR tags were added to gene: GIPC1.\nMode of inheritance for gene: GIPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GIPC1 were set to 32413282\nPhenotypes for gene: GIPC1 were set to Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940\nReview for gene: GIPC1 was set to AMBER\nAdded comment: 19 families reported with heterozygous trinucleotide repeat expansion in the 5-prime untranslated region and onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. Note this is unlikely to be tractable currently by most NGS assays. \nSources: Literature","entity_name":"GIPC1","entity_type":"gene"},{"created":"2020-07-16T18:12:29.612375+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3375","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC3 as ready","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-16T18:12:29.602369+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3375","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc3 has been classified as Green List (High Evidence).","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-16T18:12:23.260878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3375","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMC3 were changed from  to Cornelia de Lange syndrome 3, MIM#610759","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-16T18:12:07.535216+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3374","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMC3 were set to ","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-16T18:11:57.104077+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3373","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-16T18:10:46.948000+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2774","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DEAF1 as ready","entity_name":"DEAF1","entity_type":"gene"},{"created":"2020-07-16T18:10:46.940179+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2774","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: deaf1 has been classified as Green List (High Evidence).","entity_name":"DEAF1","entity_type":"gene"},{"created":"2020-07-16T18:10:43.366166+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2774","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DEAF1 were changed from  to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828","entity_name":"DEAF1","entity_type":"gene"}]}