{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1274","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1272","results":[{"created":"2021-07-09T14:56:46.539492+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IRX5 was added\ngene: IRX5 was added to Cone-rod Dystrophy. Sources: Literature\nSV/CNV tags were added to gene: IRX5.\nMode of inheritance for gene: IRX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRX5 were set to 33891002; 28041643; 32045705; 22581230; 17230486\nPhenotypes for gene: IRX5 were set to cone dystrophy, MONDO:0000455\nMode of pathogenicity for gene: IRX5 was set to Other\nReview for gene: IRX5 was set to AMBER\nAdded comment: Evidence from CNVs only\r\n\r\nDuplication of gene\r\n-------------------\r\nPMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.\r\n\r\nLoss of function/gene\r\n---------\r\nPMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa.\r\n\r\nPMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus). \nSources: Literature","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:54:53.499429+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3966","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRX5 as ready","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:54:53.489343+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3966","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irx5 has been classified as Red List (Low Evidence).","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:54:49.506910+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3966","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IRX5 were changed from  to Hamamy syndrome, MIM# 611174","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:54:13.646757+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3965","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IRX5 were set to ","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:53:46.059419+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3964","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:53:20.311447+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3963","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IRX5 as Red List (low evidence)","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:53:20.301538+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3963","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irx5 has been classified as Red List (Low Evidence).","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:52:51.982796+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3962","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IRX5: Rating: RED; Mode of pathogenicity: None; Publications: 22581230, 27453922; Phenotypes: Hamamy syndrome, MIM# 611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:51:19.094837+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8300","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRX5 as ready","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:51:19.085001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irx5 has been classified as Amber List (Moderate Evidence).","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:51:04.027479+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8300","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: IRX5.","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:50:31.121871+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8300","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IRX5 were changed from  to Hamamy syndrome, MIM# 611174; cone dystrophy, MONDO:0000455","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:50:11.635688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8299","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IRX5 were set to ","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:49:44.274559+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8298","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IRX5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:49:16.449239+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8297","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IRX5 as Amber List (moderate evidence)","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:49:16.439323+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irx5 has been classified as Amber List (Moderate Evidence).","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:48:57.450883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8296","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IRX5: Changed rating: AMBER","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:48:40.570405+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8296","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581230, 27453922; Phenotypes: Hamamy syndrome, MIM# 611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-09T14:45:03.289822+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: IRX6 was changed from None to Other","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:44:39.745074+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRX6 as ready","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:44:39.735392+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irx6 has been classified as Amber List (Moderate Evidence).","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:44:23.044915+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IRX6 as Amber List (moderate evidence)","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:44:23.035446+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irx6 has been classified as Amber List (Moderate Evidence).","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:44:10.214303+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: IRX6.","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:44:01.862109+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IRX6 was added\ngene: IRX6 was added to Cone-rod Dystrophy. Sources: Literature\nMode of inheritance for gene: IRX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRX6 were set to 33891002\nPhenotypes for gene: IRX6 were set to cone dystrophy, MONDO:0000455\nReview for gene: IRX6 was set to AMBER\nAdded comment: PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae. \r\n\r\nEvidence from CNVs only, two genes included. \nSources: Literature","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:42:17.772510+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8296","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IRX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:41:46.786040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRX6 as ready","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:41:46.777291+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irx6 has been classified as Amber List (Moderate Evidence).","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:41:32.937495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8296","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IRX6 as Amber List (moderate evidence)","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:41:32.926754+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irx6 has been classified as Amber List (Moderate Evidence).","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-09T14:21:16.481741+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3962","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB3GAP1 as ready","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:21:16.471986+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3962","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab3gap1 has been classified as Green List (High Evidence).","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:20:53.682258+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3962","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3GAP1 were changed from  to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:20:21.403465+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3961","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB3GAP1 were set to ","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:19:54.356558+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3960","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:19:20.306942+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3959","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520, 23420520, 30730599; Phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:18:22.270925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8295","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM#\t619420","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:18:04.830181+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB3GAP1 were set to 15696165; 20512159; 23420520","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:17:24.497644+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8293","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Multiple families reported.; to: Warburg micro: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.\r\n\r\nMartsolf syndrome is characterised by cataracts, mild to severe ID, dysmorphic features. Two families reported.","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:17:02.391535+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8293","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAB3GAP1: Changed publications: 15696165, 20512159, 23420520, 23420520, 30730599; Changed phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:16:44.254645+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM#\t619420","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:16:21.385582+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB3GAP1 were set to 15696165; 20512159; 23420520","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:15:56.011234+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.; to: Warburg micro: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.\r\n\r\nMartsolf syndrome is characterised by cataracts, mild to severe ID, dysmorphic features. Two families reported.","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:14:35.880095+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAB3GAP1: Changed publications: 15696165, 20512159, 23420520, 23420520, 30730599; Changed phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2021-07-09T14:12:15.235344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CXCR2 as ready","entity_name":"CXCR2","entity_type":"gene"},{"created":"2021-07-09T14:12:15.226084+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cxcr2 has been classified as Red List (Low Evidence).","entity_name":"CXCR2","entity_type":"gene"},{"created":"2021-07-09T14:12:05.556133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8293","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CXCR2 was added\ngene: CXCR2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CXCR2 were set to 24777453\nPhenotypes for gene: CXCR2 were set to WHIM syndrome 2, 619407\nReview for gene: CXCR2 was set to RED\nAdded comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene. \nSources: Expert list","entity_name":"CXCR2","entity_type":"gene"},{"created":"2021-07-09T14:10:23.573614+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CXCR2 as ready","entity_name":"CXCR2","entity_type":"gene"},{"created":"2021-07-09T14:10:23.556976+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cxcr2 has been classified as Red List (Low Evidence).","entity_name":"CXCR2","entity_type":"gene"},{"created":"2021-07-09T14:10:03.495089+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CXCR2 was added\ngene: CXCR2 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CXCR2 were set to 24777453\nPhenotypes for gene: CXCR2 were set to WHIM syndrome 2\t619407\nReview for gene: CXCR2 was set to RED\nAdded comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene. \nSources: Expert list","entity_name":"CXCR2","entity_type":"gene"},{"created":"2021-07-09T10:34:57.470159+10:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Tag for review tag was added to gene: C4A.","entity_name":"C4A","entity_type":"gene"},{"created":"2021-07-09T10:34:09.604687+10:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Tag for review tag was added to gene: C4B.","entity_name":"C4B","entity_type":"gene"},{"created":"2021-07-09T02:20:00.191982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8292","user_name":"Eleanor Williams","item_type":"entity","text":"gene: RING1 was added\ngene: RING1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RING1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RING1 were set to 29386386\nPhenotypes for gene: RING1 were set to microcephaly; intellectual disability\nReview for gene: RING1 was set to RED\nAdded comment: Not associated with any phenotype in OMIM.\r\n\r\nPMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Early motor and language development were normal but were delayed after the first year of life. Cognitive testing showed a verbal IQ of 55 and a visual performance IQ of 63. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13 which falls into the severe microcephaly category. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance. \nSources: Literature","entity_name":"RING1","entity_type":"gene"},{"created":"2021-07-09T01:20:22.879641+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8292","user_name":"Eleanor Williams","item_type":"entity","text":"gene: RNF2 was added\ngene: RNF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RNF2 were set to 33864376\nPhenotypes for gene: RNF2 were set to epilepsy; intellectual disability; intrauterine growth retardation\nReview for gene: RNF2 was set to AMBER\nAdded comment: Not associated with any phenotype in OMIM.\r\n\r\nPMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles. \nSources: Literature","entity_name":"RNF2","entity_type":"gene"},{"created":"2021-07-08T23:42:28.216208+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8292","user_name":"Eleanor Williams","item_type":"entity","text":"edited their review of gene: IRX5: Changed publications: 33891002, 28041643, 32045705, 22581230, 17230486; Changed phenotypes: cone dystrophy, MONDO:0000455, retinitis pigmentosa, MONDO:0019200","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-08T23:41:27.823274+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8292","user_name":"Eleanor Williams","item_type":"entity","text":"changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.\r\n\r\nCone dystrophy\r\n-------------------\r\nPMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition (PMID: 22581230;17230486)\r\n\r\nDuplication of gene\r\n-------------------\r\nPMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.\r\n\r\nLoss of function/gene\r\n---------\r\nPMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa.\r\n\r\nPMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).","entity_name":"IRX5","entity_type":"gene"},{"created":"2021-07-08T23:40:22.943773+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8292","user_name":"Eleanor Williams","item_type":"entity","text":"changed review comment from: Not associated with any disorder in OMIM or Gene2Phenotype.\r\n\r\nPMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae. \nSources: Literature; to: Not associated with any disorder in OMIM or Gene2Phenotype.\r\n\r\nPMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae. \r\nSources: Literature","entity_name":"IRX6","entity_type":"gene"},{"created":"2021-07-08T18:18:27.950148+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8292","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLCO2A1 as ready","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2021-07-08T18:18:27.935092+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slco2a1 has been classified as Green List (High Evidence).","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2021-07-08T17:53:48.655069+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3959","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNB2 as ready","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T17:53:48.640756+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3959","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnb2 has been classified as Green List (High Evidence).","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T17:53:44.378157+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3959","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNB2 were set to 31698099","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T17:53:10.865083+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3958","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNB2 as Green List (high evidence)","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T17:53:10.855847+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnb2 has been classified as Green List (High Evidence).","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T17:52:38.381306+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3957","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 33971351, 34183358, 33057194; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T17:51:58.590928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8292","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNB2 were set to 31698099","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T17:51:07.106557+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8291","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNB2 as Green List (high evidence)","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T17:51:07.096739+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnb2 has been classified as Green List (High Evidence).","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T17:50:47.975178+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8290","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 33971351, 34183358; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-07-08T14:35:21.780919+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HID1 as Green List (high evidence)","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:35:21.771051+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:34:57.380118+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HID1 as ready","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:34:57.369805+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:34:53.884609+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HID1 as Green List (high evidence)","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:34:53.874626+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:34:53.165741+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HID1 was added\ngene: HID1 was added to Callosome. Sources: Literature\nMode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HID1 were set to 33999436\nPhenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism\nReview for gene: HID1 was set to GREEN\nAdded comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy \nSources: Literature","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:34:42.281699+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HID1 was added\ngene: HID1 was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HID1 were set to 33999436\nPhenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism\nReview for gene: HID1 was set to GREEN\nAdded comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy. \nSources: Literature","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:33:47.877418+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3957","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HID1 as ready","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:33:47.867643+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3957","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:33:24.929699+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3957","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HID1 as Green List (high evidence)","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:33:24.919719+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3957","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:32:43.804229+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3956","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HID1 as Green List (high evidence)","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:32:43.795331+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3956","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:32:17.782927+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HID1 as ready","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:32:17.773133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:32:01.214653+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3955","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HID1 was added\ngene: HID1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HID1 were set to 33999436\nPhenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism\nReview for gene: HID1 was set to GREEN\nAdded comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy \nSources: Literature","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:31:57.002968+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HID1 as Green List (high evidence)","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:31:56.991951+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:31:39.972549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8289","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HID1 was added\ngene: HID1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HID1 were set to 33999436\nPhenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism\nReview for gene: HID1 was set to GREEN\nAdded comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy \nSources: Literature","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:31:24.798503+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HID1 as ready","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:31:24.787926+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:31:10.453527+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1137","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HID1 as Green List (high evidence)","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:31:10.444154+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hid1 has been classified as Green List (High Evidence).","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:29:14.430327+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1136","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HID1 was added\ngene: HID1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HID1 were set to 33999436\nPhenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism\nReview for gene: HID1 was set to GREEN\nAdded comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy \nSources: Literature","entity_name":"HID1","entity_type":"gene"},{"created":"2021-07-08T14:19:50.145570+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF1B as ready","entity_name":"KIF1B","entity_type":"gene"},{"created":"2021-07-08T14:19:50.131097+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1b has been classified as Amber List (Moderate Evidence).","entity_name":"KIF1B","entity_type":"gene"},{"created":"2021-07-08T14:19:40.675561+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8288","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF1B were changed from  to Charcot-Marie-Tooth disease, type 2A1 MIM#118210; Hypotonia, coloboma, hypoplasia of the corpus callosum, severe neurodevelopmental delay","entity_name":"KIF1B","entity_type":"gene"},{"created":"2021-07-08T14:19:07.990273+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8287","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF1B were set to ","entity_name":"KIF1B","entity_type":"gene"},{"created":"2021-07-08T14:18:39.346656+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8286","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KIF1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KIF1B","entity_type":"gene"}]}