{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=594","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=592","results":[{"created":"2023-06-01T15:08:56.595778+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDP1 were changed from Pyruvate dehydrogenase phosphatase deficiency to Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782","entity_name":"PDP1","entity_type":"gene"},{"created":"2023-06-01T15:08:43.057174+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2174","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDP1 as Green List (high evidence)","entity_name":"PDP1","entity_type":"gene"},{"created":"2023-06-01T15:08:43.044437+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdp1 has been classified as Green List (High Evidence).","entity_name":"PDP1","entity_type":"gene"},{"created":"2023-06-01T15:08:42.662942+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2174","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDP1 as Green List (high evidence)","entity_name":"PDP1","entity_type":"gene"},{"created":"2023-06-01T15:08:42.654696+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdp1 has been classified as Green List (High Evidence).","entity_name":"PDP1","entity_type":"gene"},{"created":"2023-06-01T15:08:30.799972+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2173","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDP1","entity_type":"gene"},{"created":"2023-06-01T15:07:28.042961+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLAT as ready","entity_name":"DLAT","entity_type":"gene"},{"created":"2023-06-01T15:07:28.031584+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlat has been classified as Green List (High Evidence).","entity_name":"DLAT","entity_type":"gene"},{"created":"2023-06-01T15:07:18.673933+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2173","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLAT as Green List (high evidence)","entity_name":"DLAT","entity_type":"gene"},{"created":"2023-06-01T15:07:18.662110+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlat has been classified as Green List (High Evidence).","entity_name":"DLAT","entity_type":"gene"},{"created":"2023-06-01T15:07:07.566944+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2172","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLAT was added\ngene: DLAT was added to Baby Screen+ newborn screening. Sources: Expert Review\nMode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency, MIM#\t245348\nReview for gene: DLAT was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nClinical presentation is in infancy.\r\n\r\nTreatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine\r\n\r\nNon-genetic confirmatory testing: enzymology\r\n\r\nIncluded for consistency with PDHA1/PDHX \nSources: Expert Review","entity_name":"DLAT","entity_type":"gene"},{"created":"2023-06-01T15:05:35.815281+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHB as ready","entity_name":"PDHB","entity_type":"gene"},{"created":"2023-06-01T15:05:35.807212+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhb has been classified as Green List (High Evidence).","entity_name":"PDHB","entity_type":"gene"},{"created":"2023-06-01T15:05:30.992050+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2171","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDHB as Green List (high evidence)","entity_name":"PDHB","entity_type":"gene"},{"created":"2023-06-01T15:05:30.984176+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhb has been classified as Green List (High Evidence).","entity_name":"PDHB","entity_type":"gene"},{"created":"2023-06-01T15:05:19.150197+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2170","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDHB was added\ngene: PDHB was added to Baby Screen+ newborn screening. Sources: Expert Review\ntreatable, metabolic tags were added to gene: PDHB.\nMode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM#\t614111\nReview for gene: PDHB was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nClinical presentation is in infancy.\r\n\r\nTreatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine\r\n\r\nNon-genetic confirmatory testing: enzymology\r\n\r\nIncluded for consistency with PDHA1/PDHX \nSources: Expert Review","entity_name":"PDHB","entity_type":"gene"},{"created":"2023-06-01T14:07:59.447349+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.923","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, MIM# 605355; nemaline myopathy MONDO:0018958 to Nemaline myopathy 5, Amish type, MIM# 605355; Nemaline myopathy-5B with rigid spine and respiratory insufficiency (NEM5B), MIM#620386; nemaline myopathy-5C (NEM5C), autosomal dominant, MIMD620389","entity_name":"TNNT1","entity_type":"gene"},{"created":"2023-06-01T14:07:35.517498+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.922","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TNNT1: Changed phenotypes: Nemaline myopathy 5, Amish type, MIM# 605355, Nemaline myopathy-5B with rigid spine and respiratory insufficiency (NEM5B), MIM#620386, nemaline myopathy-5C (NEM5C), autosomal dominant, MIMD620389","entity_name":"TNNT1","entity_type":"gene"},{"created":"2023-06-01T14:03:59.874217+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRM5 as ready","entity_name":"CHRM5","entity_type":"gene"},{"created":"2023-06-01T14:03:59.862689+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrm5 has been classified as Red List (Low Evidence).","entity_name":"CHRM5","entity_type":"gene"},{"created":"2023-06-01T14:02:50.927772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.922","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRM5 as ready","entity_name":"CHRM5","entity_type":"gene"},{"created":"2023-06-01T14:02:50.919544+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.922","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrm5 has been classified as Red List (Low Evidence).","entity_name":"CHRM5","entity_type":"gene"},{"created":"2023-06-01T14:01:39.556917+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACBD6 as ready","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T14:01:39.528094+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acbd6 has been classified as Amber List (Moderate Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T14:01:18.528662+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACBD6 as Amber List (moderate evidence)","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T14:01:18.517501+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acbd6 has been classified as Amber List (Moderate Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T14:00:30.413716+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPL50 as ready","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T14:00:30.403133+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl50 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T14:00:27.018852+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPL50 as Amber List (moderate evidence)","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T14:00:27.008920+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl50 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T14:00:15.016739+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.875","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPL50 as ready","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T14:00:15.004275+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl50 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T14:00:05.948554+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.875","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPL50 as Amber List (moderate evidence)","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T14:00:05.937545+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl50 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T13:59:18.752918+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.922","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPL50 as ready","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T13:59:18.740846+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.922","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl50 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T13:59:08.835397+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.922","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPL50 as Amber List (moderate evidence)","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T13:59:08.827509+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.922","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl50 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T13:58:49.646832+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.921","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRPL50: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease, MONDO: 004470, MRPL50-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T13:57:24.690841+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF26A as ready","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:57:24.683266+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26a has been classified as Green List (High Evidence).","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:56:52.283650+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF26A as Green List (high evidence)","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:56:52.268524+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26a has been classified as Green List (High Evidence).","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:56:37.240294+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.112","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF26A was added\ngene: KIF26A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF26A were set to 36564622\nPhenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156\nReview for gene: KIF26A was set to GREEN\nAdded comment: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia.\r\n\r\nBrain abnormalities may be detectable antenatally. \nSources: Literature","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:54:28.755503+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF26A as ready","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:54:28.747685+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26a has been classified as Green List (High Evidence).","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:54:23.705864+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF26A as Green List (high evidence)","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:54:23.695434+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26a has been classified as Green List (High Evidence).","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:53:51.709717+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF26A as ready","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:53:51.698498+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26a has been classified as Green List (High Evidence).","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:53:33.753622+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF26A as Green List (high evidence)","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:53:33.745166+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26a has been classified as Green List (High Evidence).","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T13:49:10.532277+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAPT1 were set to 26365339","entity_name":"TAPT1","entity_type":"gene"},{"created":"2023-06-01T13:47:44.456074+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.921","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MOS as ready","entity_name":"MOS","entity_type":"gene"},{"created":"2023-06-01T13:47:44.443633+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.921","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mos has been classified as Green List (High Evidence).","entity_name":"MOS","entity_type":"gene"},{"created":"2023-06-01T13:47:30.571616+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.921","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MOS were changed from Early embryonic arrest and fragmentation; infertility to Infertility disorder, MONDO:0005047, MOS-related; Early embryonic arrest and fragmentation","entity_name":"MOS","entity_type":"gene"},{"created":"2023-06-01T13:46:40.598019+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.37","user_name":"Peter McNaughton","item_type":"entity","text":"gene: NFATC1 was added\ngene: NFATC1 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFATC1 were set to PMID: 37249233\nPhenotypes for gene: NFATC1 were set to Combined Immune deficiency\nReview for gene: NFATC1 was set to AMBER\nAdded comment: 3 patients from a multigenerational consanguineous pedigree with early-onset sinopulmonary infections and bronchiectasis, recurrent viral (warts) and bacterial (folliculitis and abscesses) skin infections, hypogammaglobulinemia, lower CD4+/CD8+ T-cell ratio and lower recent thymic emigrants compared with the age-matched controls. Lymphocyte proliferation responses to PHA and CD3/CD28 stimulations were defective.\r\nSingle pedigree but supportive functional studies - ?green. \nSources: Literature","entity_name":"NFATC1","entity_type":"gene"},{"created":"2023-06-01T13:46:25.810293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.920","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MOS as Green List (high evidence)","entity_name":"MOS","entity_type":"gene"},{"created":"2023-06-01T13:46:25.791844+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.920","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mos has been classified as Green List (High Evidence).","entity_name":"MOS","entity_type":"gene"},{"created":"2023-06-01T13:44:56.745593+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HMGCR as ready","entity_name":"HMGCR","entity_type":"gene"},{"created":"2023-06-01T13:44:56.735286+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmgcr has been classified as Green List (High Evidence).","entity_name":"HMGCR","entity_type":"gene"},{"created":"2023-06-01T13:42:20.178622+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HMGCR as Green List (high evidence)","entity_name":"HMGCR","entity_type":"gene"},{"created":"2023-06-01T13:42:20.170893+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmgcr has been classified as Green List (High Evidence).","entity_name":"HMGCR","entity_type":"gene"},{"created":"2023-06-01T13:41:50.014216+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.919","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HMGCR were changed from [Low density lipoprotein cholesterol level QTL 3] to autosomal recessive limb-girdle muscular dystrophy (MONDO: 0015152), HMGCR-related","entity_name":"HMGCR","entity_type":"gene"},{"created":"2023-06-01T13:41:22.071465+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.918","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HMGCR were set to 18354102; 29480216","entity_name":"HMGCR","entity_type":"gene"},{"created":"2023-06-01T13:40:56.823336+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.917","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HMGCR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HMGCR","entity_type":"gene"},{"created":"2023-06-01T13:40:34.739419+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.916","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HMGCR as Green List (high evidence)","entity_name":"HMGCR","entity_type":"gene"},{"created":"2023-06-01T13:40:34.731998+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.916","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmgcr has been classified as Green List (High Evidence).","entity_name":"HMGCR","entity_type":"gene"},{"created":"2023-06-01T13:40:10.886016+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5244","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM6 as ready","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T13:40:10.872319+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm6 has been classified as Green List (High Evidence).","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T12:32:15.779170+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.915","user_name":"Melanie Marty","item_type":"entity","text":"gene: MOS was added\ngene: MOS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MOS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOS were set to PMID: 34779126; PMID: 34997960; PMID: 36403623; PMID: 35670744\nPhenotypes for gene: MOS were set to Early embryonic arrest and fragmentation; infertility\nReview for gene: MOS was set to GREEN\nAdded comment: PMID: 34779126: 3 x females with infertility with biallelic MOS variants identified. Using oocyte-specific Erk1/2 knockout mice, they verified that MOS-ERK signal pathway inactivation in oocytes caused early embryonic arrest and fragmentation.\r\n\r\nPMID: 34997960: 2 x females with biallelic MOS variants. Functional studies showed a reduction of protein for two of these variants (missense and frameshift). Functional studies also showed these variants reduced the ability of MOS to phosphorylate its downstream target, extracellular signal-regulated kinase 1/2.\r\n\r\nPMID: 35670744 1 x additional family (twins) with infertility and abnormal oocyte morphology with large first polar body.  Functional studies showed the MOS variants could not activate MEK1/2 and ERK1/2 in oocytes and HEK293 cells. In addition, functional studies also showed when compared with wild-type MOS, the MOS variants decreased the MOS protein level and attenuated the binding capacity with MEK1. \r\n\r\nPMID: 36403623 1 x female with primary infertility, patient’s oocytes had a large polar body and poor embryonic development, hom missense variant in MOS identified. \nSources: Literature","entity_name":"MOS","entity_type":"gene"},{"created":"2023-06-01T12:25:33.132316+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.106","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36697720, 36652330; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: None; Current diagnostic: yes","entity_name":"TAPT1","entity_type":"gene"},{"created":"2023-06-01T12:20:24.474853+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1862","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T12:19:21.598732+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1861","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T12:18:42.294247+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1860","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ANK2 were changed from Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038 to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T12:18:40.699466+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1859","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ANK2 as ready","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T12:18:40.689889+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1859","user_name":"Elena Savva","item_type":"entity","text":"Gene: ank2 has been classified as Green List (High Evidence).","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T12:17:47.043178+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1859","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ANK2 as Green List (high evidence)","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T12:17:47.029792+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1859","user_name":"Elena Savva","item_type":"entity","text":"Gene: ank2 has been classified as Green List (High Evidence).","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T12:17:20.135041+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1858","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ANK2 as Green List (high evidence)","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T12:17:20.123614+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1858","user_name":"Elena Savva","item_type":"entity","text":"Gene: ank2 has been classified as Green List (High Evidence).","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T12:16:24.452362+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.355","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: TAPT1 as ready","entity_name":"TAPT1","entity_type":"gene"},{"created":"2023-06-01T12:16:24.440639+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.355","user_name":"Ain Roesley","item_type":"entity","text":"Gene: tapt1 has been classified as Red List (Low Evidence).","entity_name":"TAPT1","entity_type":"gene"},{"created":"2023-06-01T12:16:18.530367+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.355","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: TAPT1 as Red List (low evidence)","entity_name":"TAPT1","entity_type":"gene"},{"created":"2023-06-01T12:16:18.522095+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.355","user_name":"Ain Roesley","item_type":"entity","text":"Gene: tapt1 has been classified as Red List (Low Evidence).","entity_name":"TAPT1","entity_type":"gene"},{"created":"2023-06-01T12:15:57.749749+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5244","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC79-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related","entity_name":"UNC79","entity_type":"gene"},{"created":"2023-06-01T12:15:40.267664+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5243","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC79-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related","entity_name":"UNC79","entity_type":"gene"},{"created":"2023-06-01T12:15:17.423889+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related","entity_name":"UNC79","entity_type":"gene"},{"created":"2023-06-01T12:14:19.139877+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1857","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related","entity_name":"UNC79","entity_type":"gene"},{"created":"2023-06-01T12:13:59.118786+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.915","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: TAPT1 were set to 26365339","entity_name":"TAPT1","entity_type":"gene"},{"created":"2023-06-01T12:13:50.963380+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.233","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: TAPT1 were set to 26365339","entity_name":"TAPT1","entity_type":"gene"},{"created":"2023-06-01T12:13:13.780975+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.914","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related","entity_name":"UNC79","entity_type":"gene"},{"created":"2023-06-01T12:12:13.415460+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.354","user_name":"Paul De Fazio","item_type":"entity","text":"gene: TAPT1 was added\ngene: TAPT1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAPT1 were set to 36697720; 36652330\nPhenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)\nReview for gene: TAPT1 was set to RED\ngene: TAPT1 was marked as current diagnostic\nAdded comment: PMID: 36697720 - reports a patient with a biallelic frameshift variant in an infant with bilateral cateract, dysmorphic features, poor weight gain, and clinical symptoms reminiscent of osteogenesis imperfecta. A zebrafish knockout model showed aberrant lens development but no visible skeletal involvement. \nSources: Literature","entity_name":"TAPT1","entity_type":"gene"},{"created":"2023-06-01T12:11:17.912317+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.913","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: NSUN6 as Amber List (moderate evidence)","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-06-01T12:11:17.904729+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.913","user_name":"Elena Savva","item_type":"entity","text":"Gene: nsun6 has been classified as Amber List (Moderate Evidence).","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-06-01T12:10:49.923274+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.912","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: NSUN6 as Amber List (moderate evidence)","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-06-01T12:10:49.902765+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.912","user_name":"Elena Savva","item_type":"entity","text":"Gene: nsun6 has been classified as Amber List (Moderate Evidence).","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-06-01T12:10:49.614387+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.911","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: NSUN6 as ready","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-06-01T12:10:49.604680+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.911","user_name":"Elena Savva","item_type":"entity","text":"Gene: nsun6 has been removed from the panel.","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-06-01T12:10:16.093116+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5242","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: NSUN6 as Amber List (moderate evidence)","entity_name":"NSUN6","entity_type":"gene"}]}