{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=299","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=297","results":[{"created":"2025-02-04T14:14:11.437803+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrap2 has been classified as Amber List (Moderate Evidence).","entity_name":"MRAP2","entity_type":"gene"},{"created":"2025-02-04T14:13:53.391799+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRAP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31700171; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MRAP2","entity_type":"gene"},{"created":"2025-02-04T14:06:15.811078+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGAV as ready","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T14:06:15.787856+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T13:43:41.471443+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23808541, 33783941, 19449421, 35256560, 1609830; Phenotypes: Van den Ende-Gupta syndrome, MIM#600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCARF2","entity_type":"gene"},{"created":"2025-02-04T13:00:34.588526+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGAV as Amber List (moderate evidence)","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T13:00:34.555284+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:58:43.393892+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.311","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGAV was added\ngene: ITGAV was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGAV were set to 39526957\nPhenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related\nReview for gene: ITGAV was set to AMBER\nAdded comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation. \nSources: Literature","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:57:17.367746+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGAV as ready","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:57:17.354987+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:56:51.929614+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGAV as Amber List (moderate evidence)","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:56:51.914984+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:56:06.517602+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGAV was added\ngene: ITGAV was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGAV were set to 39526957\nPhenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related\nReview for gene: ITGAV was set to AMBER\nAdded comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation. \nSources: Literature","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:54:30.686137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGAV as ready","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:54:30.671085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:54:19.632984+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2284","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGAV as Amber List (moderate evidence)","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:54:19.615452+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:53:56.930760+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGAV as ready","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:53:56.900462+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:53:47.170225+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGAV as Amber List (moderate evidence)","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:53:47.152680+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:53:47.062942+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGAV as ready","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:53:47.038491+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:53:18.149079+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGAV as Amber List (moderate evidence)","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:53:18.129796+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgav has been classified as Amber List (Moderate Evidence).","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:53:02.123490+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2283","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGAV was added\ngene: ITGAV was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGAV were set to 39526957\nPhenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related\nReview for gene: ITGAV was set to AMBER\nAdded comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation. \nSources: Literature","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:51:36.982906+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGAV was added\ngene: ITGAV was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGAV were set to 39526957\nPhenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related\nReview for gene: ITGAV was set to AMBER\nAdded comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation. \nSources: Literature","entity_name":"ITGAV","entity_type":"gene"},{"created":"2025-02-04T12:33:44.917453+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RYBP as ready","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:33:44.899940+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rybp has been classified as Green List (High Evidence).","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:33:18.575232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2282","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RYBP as Green List (high evidence)","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:33:18.558674+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rybp has been classified as Green List (High Evidence).","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:32:49.321838+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2281","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RYBP was added\ngene: RYBP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RYBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RYBP were set to 39891528\nPhenotypes for gene: RYBP were set to Neurodevelopmental disorder, MONDO:0700092, RYBP-related\nReview for gene: RYBP was set to GREEN\nAdded comment: Seven individuals with heterozygous de novo variants in RYBP reported. Clinical findings include severe developmental delay, dysmorphisms and multiple congenital anomalies. All the single nucleotide variants in RYBP localized to the N-terminal domain of the gene, which encodes the zinc finger domain and ubiquitin binding moiety. Further supportive in vitro and Drosophila functional data. \nSources: Literature","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:28:47.047177+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RYBP as Green List (high evidence)","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:28:47.033432+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rybp has been classified as Green List (High Evidence).","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:28:45.958334+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C1orf127 as ready","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:28:45.941422+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1orf127 has been classified as Green List (High Evidence).","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:28:31.107286+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RYBP as ready","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:28:31.031329+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rybp has been classified as Green List (High Evidence).","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:28:03.698828+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RYBP as Green List (high evidence)","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:28:03.687360+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rybp has been classified as Green List (High Evidence).","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:27:07.640126+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RYBP was added\ngene: RYBP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RYBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RYBP were set to 39891528\nPhenotypes for gene: RYBP were set to Neurodevelopmental disorder, MONDO:0700092, RYBP-related\nReview for gene: RYBP was set to GREEN\nAdded comment: Seven individuals with heterozygous de novo variants in RYBP reported. Clinical findings include severe developmental delay, dysmorphisms and multiple congenital anomalies. All the single nucleotide variants in RYBP localized to the N-terminal domain of the gene, which encodes the zinc finger domain and ubiquitin binding moiety. Further supportive in vitro and Drosophila functional data. \nSources: Literature","entity_name":"RYBP","entity_type":"gene"},{"created":"2025-02-04T12:23:13.043496+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.310","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C1orf127 as Green List (high evidence)","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:23:13.030907+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1orf127 has been classified as Green List (High Evidence).","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:22:57.090559+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.309","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1orf127 was added\ngene: C1orf127 was added to Fetal anomalies. Sources: Literature\nnew gene name tags were added to gene: C1orf127.\nMode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1orf127 were set to 39753129\nPhenotypes for gene: C1orf127 were set to Heterotaxy, visceral, MONDO:0018677, CIROZ-related\nReview for gene: C1orf127 was set to GREEN\nAdded comment: 16 individuals from 10 families reported with bi-allelic variants in this gene and heterotaxy, including CHD. Supportive mouse model. CIROZ is absent or obsolete in select animals with motile cilia at their left-right organiser, including Carnivora, Atherinomorpha fish, or jawless vertebrates. Knockouts in zebrafish and Xenopus did not have observable LR anomalies. Approved HGNC name is CIROZ. \nSources: Literature","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:21:33.321231+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2280","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C1orf127 as ready","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:21:33.297652+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2280","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1orf127 has been classified as Green List (High Evidence).","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:21:22.158754+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2280","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C1orf127 as Green List (high evidence)","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:21:22.140807+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2280","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1orf127 has been classified as Green List (High Evidence).","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:20:58.452944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2279","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1orf127 was added\ngene: C1orf127 was added to Mendeliome. Sources: Literature\nnew gene name tags were added to gene: C1orf127.\nMode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1orf127 were set to 39753129\nPhenotypes for gene: C1orf127 were set to Heterotaxy, visceral, MONDO:0018677, CIROZ-related\nReview for gene: C1orf127 was set to GREEN\nAdded comment: 16 individuals from 10 families reported with bi-allelic variants in this gene and heterotaxy, including CHD. Supportive mouse model. CIROZ is absent or obsolete in select animals with motile cilia at their left-right organiser, including Carnivora, Atherinomorpha fish, or jawless vertebrates. Knockouts in zebrafish and Xenopus did not have observable LR anomalies. Approved HGNC name is CIROZ. \nSources: Literature","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:19:08.481718+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C1orf127 as ready","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:19:08.468505+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1orf127 has been classified as Green List (High Evidence).","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:19:00.974383+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C1orf127 as Green List (high evidence)","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:19:00.954978+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1orf127 has been classified as Green List (High Evidence).","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:18:23.519691+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C1orf127.","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:17:52.706418+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1orf127 was added\ngene: C1orf127 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1orf127 were set to 39753129\nPhenotypes for gene: C1orf127 were set to Heterotaxy, visceral, MONDO:0018677, CIROZ-related\nReview for gene: C1orf127 was set to GREEN\nAdded comment: 16 individuals from 10 families reported with bi-allelic variants in this gene and heterotaxy, including CHD. Supportive mouse model. CIROZ is absent or obsolete in select animals with motile cilia at their left-right organiser, including Carnivora, Atherinomorpha fish, or jawless vertebrates. Knockouts in zebrafish and Xenopus did not have observable LR anomalies.\r\n\r\nApproved HGNC name is CIROZ. \nSources: Literature","entity_name":"C1orf127","entity_type":"gene"},{"created":"2025-02-04T12:07:58.608406+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAND5 as ready","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-04T12:07:58.588353+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dand5 has been classified as Amber List (Moderate Evidence).","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-04T12:07:46.780733+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2278","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAND5 as Amber List (moderate evidence)","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-04T12:07:46.763348+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dand5 has been classified as Amber List (Moderate Evidence).","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-04T12:07:18.737445+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2277","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAND5 was added\ngene: DAND5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAND5 were set to 36316122; 34215651\nPhenotypes for gene: DAND5 were set to Heterotaxy, visceral, 13, autosomal, MIM# 621079\nReview for gene: DAND5 was set to AMBER\nAdded comment: Two individuals reported with bi-allelic LoF variants and heterotaxy. \nSources: Literature","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-04T12:05:44.553333+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAND5 as ready","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-04T12:05:44.526332+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dand5 has been classified as Amber List (Moderate Evidence).","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-04T12:05:36.797377+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAND5 as Amber List (moderate evidence)","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-04T12:05:36.779473+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dand5 has been classified as Amber List (Moderate Evidence).","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-04T12:03:27.977761+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAND5 was added\ngene: DAND5 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAND5 were set to 36316122; 34215651\nPhenotypes for gene: DAND5 were set to Heterotaxy, visceral, 13, autosomal, MIM#\t621079\nReview for gene: DAND5 was set to AMBER\nAdded comment: Two individuals reported with bi-allelic LoF variants and heterotaxy. \nSources: Literature","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-02-03T18:18:12.981999+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19015156, 23355087, 22683713, 23918762, 28916646, 29205472; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERAC1","entity_type":"gene"},{"created":"2025-02-03T18:11:57.915350+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777481, 24031089, 28328131; Phenotypes: Arthrogryposis, impaired intellectual development, and seizures MIM#615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2025-02-03T17:57:02.540381+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 29498153, 27231142, 30232769; Phenotypes: Hypermanganesemia with dystonia 2, MIM# 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2025-02-03T17:50:28.314829+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 33250374, 31299140; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2025-02-03T17:40:40.337570+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285, 24501761; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 MIM#616354; Mode of inheritance: None","entity_name":"SNX14","entity_type":"gene"},{"created":"2025-02-03T17:34:13.634655+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 28679690, 6022528, 20437587; Phenotypes: Troyer syndrome MIM#275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPART","entity_type":"gene"},{"created":"2025-02-03T16:57:55.920897+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: STUB1: Rating: ; Mode of pathogenicity: None; Publications: 24113144, 24742043; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16 MIM#615768; Mode of inheritance: None","entity_name":"STUB1","entity_type":"gene"},{"created":"2025-02-03T16:41:48.459104+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666374, 27666370, 27807845, 31569255; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBCD","entity_type":"gene"},{"created":"2025-02-03T16:30:45.903581+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 32655147, 33590725, 25118024, 25182137; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2025-02-03T15:48:26.368502+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: TDRD7: Rating: ; Mode of pathogenicity: None; Publications: 21436445, 28418495; Phenotypes: Cataract 36 MIM#613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TDRD7","entity_type":"gene"},{"created":"2025-02-03T15:37:40.624168+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326318, 10482949, 11298529, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TGM1","entity_type":"gene"},{"created":"2025-02-03T15:08:28.310491+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEL1L were changed from Neurodevelopmental disorder, MONDO:0700092, SEL1L-related to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068; Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067","entity_name":"SEL1L","entity_type":"gene"},{"created":"2025-02-03T15:07:40.693319+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEL1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068, Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEL1L","entity_type":"gene"},{"created":"2025-02-03T15:07:05.980998+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2276","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEL1L were changed from Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067 to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068; Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067","entity_name":"SEL1L","entity_type":"gene"},{"created":"2025-02-03T15:06:37.693763+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2275","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEL1L: Added comment: Has been split into two conditions by OMIM -- uncertain that these are distinct and not part of a spectrum. Await further reports.; Changed phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068, Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067","entity_name":"SEL1L","entity_type":"gene"},{"created":"2025-02-03T15:05:16.122674+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2275","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEL1L were changed from Neurodevelopmental disorder, MONDO:0700092, SEL1L-related to Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067","entity_name":"SEL1L","entity_type":"gene"},{"created":"2025-02-03T15:04:50.509768+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2274","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEL1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEL1L","entity_type":"gene"},{"created":"2025-02-03T15:04:34.977875+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888877, 25470042, 33042106, 17100991, 12754710, 11938494; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIM37","entity_type":"gene"},{"created":"2025-02-03T14:49:46.228662+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24599544, 18553553, 16311597; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UBR1","entity_type":"gene"},{"created":"2025-02-03T14:41:21.026742+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12983120, 37585628, 1734381, 5411133, 9413009; Phenotypes: Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport), Crigler-Najjar syndrome, type I MIM#218800, Crigler-Najjar syndrome, type II MIM#606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2025-02-03T14:20:23.498809+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.308","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: PPFIBP1 as ready","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2025-02-03T14:20:23.475880+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.308","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ppfibp1 has been classified as Green List (High Evidence).","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2025-02-03T14:20:12.721403+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.308","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: PPFIBP1 as Green List (high evidence)","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2025-02-03T14:20:12.704702+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.308","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ppfibp1 has been classified as Green List (High Evidence).","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2025-02-03T14:20:07.855310+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.308","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: PPFIBP1 as Green List (high evidence)","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2025-02-03T14:20:07.829995+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.308","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ppfibp1 has been classified as Green List (High Evidence).","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2025-02-03T14:18:49.083653+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.307","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Fetal microcephaly and IUGR are reported features. \nSources: Literature; to: Fetal microcephaly and IUGR are reported features. \r\nSources: Literature","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2025-02-03T14:17:20.913048+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.307","user_name":"Krithika Murali","item_type":"entity","text":"gene: PPFIBP1 was added\ngene: PPFIBP1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPFIBP1 were set to PMID: 35830857; PMID: 37229200\nPhenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities - MIM#620024\nReview for gene: PPFIBP1 was set to GREEN\nAdded comment: Fetal microcephaly and IUGR are reported features. \nSources: Literature","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2025-02-03T14:01:09.824942+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26307567, 26307567, 27473128, 11250079, 33452836; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS11","entity_type":"gene"},{"created":"2025-02-02T08:32:20.305229+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.27","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: CAPRIN1 was added\ngene: CAPRIN1 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAPRIN1 were set to 39878554\nPhenotypes for gene: CAPRIN1 were set to Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy\nPenetrance for gene: CAPRIN1 were set to unknown\nReview for gene: CAPRIN1 was set to GREEN\ngene: CAPRIN1 was marked as current diagnostic\nAdded comment: Sources: Literature","entity_name":"CAPRIN1","entity_type":"gene"},{"created":"2025-02-02T08:31:36.132572+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.30","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: CAPRIN1 was added\ngene: CAPRIN1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAPRIN1 were set to 39878554\nPhenotypes for gene: CAPRIN1 were set to Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy\nPenetrance for gene: CAPRIN1 were set to unknown\nReview for gene: CAPRIN1 was set to GREEN\ngene: CAPRIN1 was marked as current diagnostic\nAdded comment: Sources: Literature","entity_name":"CAPRIN1","entity_type":"gene"},{"created":"2025-02-02T08:30:32.381764+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.19","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: CAPRIN1 was added\ngene: CAPRIN1 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAPRIN1 were set to 39878554\nPhenotypes for gene: CAPRIN1 were set to Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy\nPenetrance for gene: CAPRIN1 were set to unknown\nReview for gene: CAPRIN1 was set to GREEN\ngene: CAPRIN1 was marked as current diagnostic\nAdded comment: Sources: Literature","entity_name":"CAPRIN1","entity_type":"gene"},{"created":"2025-01-31T15:38:11.724194+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMK","entity_type":"gene"},{"created":"2025-01-31T15:26:40.937778+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883, Peroxisome biogenesis disorder 11B, MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX13","entity_type":"gene"},{"created":"2025-01-31T14:41:56.939769+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859, Peroxisome biogenesis disorder 3B, MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX12","entity_type":"gene"}]}