{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1951","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1949","results":[{"created":"2020-01-31T22:21:06.342719+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRIT1 were set to ","entity_name":"KRIT1","entity_type":"gene"},{"created":"2020-01-31T22:20:08.264619+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACSL4 were set to ","entity_name":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T22:19:51.033634+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACSL4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T22:19:32.445271+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1120","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889465, 12525535; Phenotypes: Mental retardation, X-linked 63, MIM# 300387 XLD; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T22:18:16.664854+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBBP8 as ready","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:18:16.653303+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbbp8 has been classified as Red List (Low Evidence).","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:18:03.011444+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACSL4 as ready","entity_name":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T22:18:03.005100+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: At least three unrelated individuals reported.","entity_name":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T22:18:02.947646+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsl4 has been classified as Green List (High Evidence).","entity_name":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T22:17:39.600615+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACSL4 were changed from  to Mental retardation, X-linked 63, MIM# 300387 XLD","entity_name":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T22:17:06.550550+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1832","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACSL4 were set to ","entity_name":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T22:11:36.058505+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1831","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACSL4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T22:10:53.032857+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBBP8 were changed from  to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:10:18.019360+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RBBP8 were set to ","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:09:46.087922+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:09:17.566826+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RBBP8 as Red List (low evidence)","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:09:17.556478+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbbp8 has been classified as Red List (Low Evidence).","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:08:45.208591+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RBBP8: Rating: RED; Mode of pathogenicity: None; Publications: 21998596; Phenotypes: Jawad syndrome, MIM#251255, Seckel syndrome 2, MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:05:26.156865+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ACVRL1 as ready","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-01-31T22:05:26.146615+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acvrl1 has been classified as Green List (High Evidence).","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-01-31T22:04:42.003672+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TEK as ready","entity_name":"TEK","entity_type":"gene"},{"created":"2020-01-31T22:04:41.991839+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tek has been classified as Green List (High Evidence).","entity_name":"TEK","entity_type":"gene"},{"created":"2020-01-31T22:04:19.522451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBBP8 as ready","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:04:19.517446+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1120","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Individuals from 3 families reported in the literature with bi-allelic variants in this gene: clinical diagnosis was Jawad syndrome in one, and Seckel syndrome in 2. ID is a reported feature. Additional variant in ClinVar, so overall rating Green.","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:04:19.478530+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbbp8 has been classified as Green List (High Evidence).","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:02:04.720296+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1120","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBBP8 were changed from  to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:00:35.332524+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1119","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RBBP8 were set to 21998596","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:00:26.604793+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1118","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RBBP8 were set to ","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T22:00:15.941799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1117","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T21:59:29.816620+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CLDN1 was added\ngene: CLDN1 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN1 were set to 12164927; 11889141; 29146216\nPhenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626\nReview for gene: CLDN1 was set to GREEN\nAdded comment: A rare syndromic ichthyosis that has been reported ~15 cases with at least 3 different variants since 2004. A Cldn1 null mouse has an abnormal epidermal barrier. \nSources: Literature","entity_name":"CLDN1","entity_type":"gene"},{"created":"2020-01-31T21:59:17.231022+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NIPBL as ready","entity_name":"NIPBL","entity_type":"gene"},{"created":"2020-01-31T21:59:17.218046+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nipbl has been classified as Green List (High Evidence).","entity_name":"NIPBL","entity_type":"gene"},{"created":"2020-01-31T21:59:04.654454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NIPBL were changed from  to Cornelia de Lange syndrome 1, MIM#122470","entity_name":"NIPBL","entity_type":"gene"},{"created":"2020-01-31T21:58:31.120537+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1115","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NIPBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NIPBL","entity_type":"gene"},{"created":"2020-01-31T21:57:43.237631+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMTA1 as ready","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-01-31T21:57:43.227819+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camta1 has been classified as Green List (High Evidence).","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-01-31T21:57:30.141579+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAMTA1 were changed from  to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-01-31T21:56:51.142423+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1829","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HUWE1 as ready","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:56:51.132145+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1829","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: huwe1 has been classified as Green List (High Evidence).","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:56:44.930186+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1829","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-01-31T21:56:08.085442+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1828","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HUWE1 were changed from  to Mental retardation, X-linked syndromic, Turner type","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:55:33.151182+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:54:53.208184+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Turner type; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:52:57.380387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1114","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HUWE1 as ready","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:52:57.370234+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: huwe1 has been classified as Green List (High Evidence).","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:52:43.104606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1114","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HUWE1 were changed from  to Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:52:10.786744+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1113","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HUWE1 were set to ","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:51:50.825255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1112","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T21:49:42.302825+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLNA as ready","entity_name":"FLNA","entity_type":"gene"},{"created":"2020-01-31T21:49:42.292094+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flna has been classified as Green List (High Evidence).","entity_name":"FLNA","entity_type":"gene"},{"created":"2020-01-31T21:49:27.616851+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLNA were changed from  to ?FG syndrome 2, XL; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular, 1; Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia","entity_name":"FLNA","entity_type":"gene"},{"created":"2020-01-31T21:48:26.677096+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1110","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLNA were set to ","entity_name":"FLNA","entity_type":"gene"},{"created":"2020-01-31T21:48:09.309329+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1109","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"FLNA","entity_type":"gene"},{"created":"2020-01-31T21:47:39.004444+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GTF2H5 was added\ngene: GTF2H5 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H5 were set to 30359777; 24986372\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive MIM#616395\nReview for gene: GTF2H5 was set to AMBER\nAdded comment: Congenital ichthyosis has been reported as a feature of this condition in two cases with biallelic variants in this gene. \nSources: Literature","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2020-01-31T21:47:00.031018+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA2 as ready","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-01-31T21:47:00.017653+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama2 has been classified as Green List (High Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-01-31T21:45:48.521526+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA2 were changed from  to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138; LAMA2-related muscular dystrophy (suggested by PMID: 30055037)","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-01-31T21:44:58.497438+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1825","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMA2 were set to ","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-01-31T21:44:27.518522+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1824","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-01-31T21:43:26.755735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR35 as ready","entity_name":"WDR35","entity_type":"gene"},{"created":"2020-01-31T21:43:26.745066+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr35 has been classified as Green List (High Evidence).","entity_name":"WDR35","entity_type":"gene"},{"created":"2020-01-31T21:43:15.475668+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR35 were changed from  to Cranioectodermal dysplasia 2, MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091","entity_name":"WDR35","entity_type":"gene"},{"created":"2020-01-31T21:42:18.149290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR35","entity_type":"gene"},{"created":"2020-01-31T21:41:09.924987+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAH11 as ready","entity_name":"DNAH11","entity_type":"gene"},{"created":"2020-01-31T21:41:09.914208+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah11 has been classified as Green List (High Evidence).","entity_name":"DNAH11","entity_type":"gene"},{"created":"2020-01-31T21:41:00.100029+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAH11 were changed from  to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884","entity_name":"DNAH11","entity_type":"gene"},{"created":"2020-01-31T21:40:31.877557+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1105","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAH11","entity_type":"gene"},{"created":"2020-01-31T21:35:02.205371+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELOVL1 as ready","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:35:02.194791+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl1 has been classified as Green List (High Evidence).","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:34:52.114361+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1104","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELOVL1 were changed from  to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:34:34.342874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:34:11.925901+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:31:33.136962+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ERCC3 was added\ngene: ERCC3 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC3 were set to 9012405; 28913623\nPhenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive MIM#616390\nReview for gene: ERCC3 was set to RED\nAdded comment: Gene has been reported to cause a syndromic ichthyosis, but there is only one report of ichthyosis in a single case. Ichthyosis is more prevalent in Trichothiodystrophy 1, which is caused by ERCC2. \nSources: Literature","entity_name":"ERCC3","entity_type":"gene"},{"created":"2020-01-31T21:20:32.042715+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELOVL1 as ready","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:20:32.032412+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl1 has been classified as Green List (High Evidence).","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:20:28.187371+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELOVL1 were changed from  to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:19:55.094911+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ELOVL1 were set to ","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:19:28.028070+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T21:18:02.292821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLDN10 as ready","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T21:18:02.281856+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cldn10 has been classified as Green List (High Evidence).","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T21:17:50.331487+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1102","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLDN10 were changed from  to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T21:17:34.104323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1101","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T21:17:13.269547+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1100","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T21:08:09.259730+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLDN10 as ready","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T21:08:09.249573+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cldn10 has been classified as Green List (High Evidence).","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T21:07:59.362980+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLDN10 were changed from  to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T21:04:42.908699+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T21:04:19.340245+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SUMF1 was added\ngene: SUMF1 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUMF1 were set to 30124108; 28566233; 25222778; 24339620\nPhenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency MIM#272200; neurologic deterioration with mental retardation; skeletal anomalies; organomegaly; ichthyosis\nReview for gene: SUMF1 was set to GREEN\nAdded comment: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder with ichthyosis as a prominent feature. >3 unrelated families reported. \nSources: Expert list","entity_name":"SUMF1","entity_type":"gene"},{"created":"2020-01-31T21:03:26.931167+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1823","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EBP as ready","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T21:03:26.926401+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1823","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: CDP lethal in males (unless mosaic) and females generally have normal intellectual development. Hypomorphic variants in males result in MEND, which has ID as a feature (carrier females for these variants generally asymptomatic).","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T21:03:26.899948+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1823","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":"2020-01-31T21:03:05.521468+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1823","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EBP were changed from  to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T21:02:21.819648+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1822","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T20:56:15.264649+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1822","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EBP was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T20:55:34.166980+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1821","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: EBP.","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T20:55:20.344490+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1821","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T20:51:42.785377+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EBP were changed from Chondrodysplasia punctata, X-linked dominant MIM#302960 to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T20:50:28.093233+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EBP as Green List (high evidence)","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T20:50:28.082718+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.30","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":"2020-01-31T20:49:33.282474+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14 MIM#617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SULT2B1","entity_type":"gene"}]}