{"count":220828,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1607","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1605","results":[{"created":"2020-09-05T14:09:13.445166+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auh has been classified as Green List (High Evidence).","entity_name":"AUH","entity_type":"gene"},{"created":"2020-09-05T14:09:05.831043+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AUH","entity_type":"gene"},{"created":"2020-09-05T14:05:51.639009+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARX as ready","entity_name":"ARX","entity_type":"gene"},{"created":"2020-09-05T14:05:51.623886+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arx has been classified as Green List (High Evidence).","entity_name":"ARX","entity_type":"gene"},{"created":"2020-09-05T14:05:48.630369+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARX were set to ","entity_name":"ARX","entity_type":"gene"},{"created":"2020-09-05T14:05:36.400496+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARX: Changed publications: 11889467, 15200506","entity_name":"ARX","entity_type":"gene"},{"created":"2020-09-05T14:04:50.649336+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ARX was changed from  to Other","entity_name":"ARX","entity_type":"gene"},{"created":"2020-09-05T14:04:43.905249+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARX were changed from Early infantile epileptic encephalopathy; Dystonia to Partington syndrome, MIM# 309510; Dystonia","entity_name":"ARX","entity_type":"gene"},{"created":"2020-09-05T14:04:20.037703+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Partington syndrome, MIM# 309510; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ARX","entity_type":"gene"},{"created":"2020-09-05T11:47:33.708623+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFB10 were changed from fatal infantile lactic acidosis; cardiomyopathy to fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-09-05T11:46:59.637392+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-09-05T11:46:22.365042+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4232","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFB10 were changed from fatal infantile lactic acidosis; cardiomyopathy to fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-09-05T11:45:50.050625+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4231","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFB10: Changed phenotypes: fatal infantile lactic acidosis, cardiomyopathy, Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-09-05T11:44:47.872851+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510","entity_name":"SSBP1","entity_type":"gene"},{"created":"2020-09-05T11:44:15.161320+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None","entity_name":"SSBP1","entity_type":"gene"},{"created":"2020-09-05T11:43:59.473525+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510","entity_name":"SSBP1","entity_type":"gene"},{"created":"2020-09-05T11:43:28.506448+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None","entity_name":"SSBP1","entity_type":"gene"},{"created":"2020-09-05T11:43:07.102057+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4231","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510","entity_name":"SSBP1","entity_type":"gene"},{"created":"2020-09-05T11:42:41.700157+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4230","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None","entity_name":"SSBP1","entity_type":"gene"},{"created":"2020-09-04T21:17:55.385345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM10 as ready","entity_name":"MCM10","entity_type":"gene"},{"created":"2020-09-04T21:17:55.374631+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm10 has been classified as Red List (Low Evidence).","entity_name":"MCM10","entity_type":"gene"},{"created":"2020-09-04T21:17:04.961770+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4230","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCM10 was added\ngene: MCM10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM10 were set to 32865517\nPhenotypes for gene: MCM10 were set to Susceptibility to CMV\nReview for gene: MCM10 was set to RED\nAdded comment: Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV. \nSources: Literature","entity_name":"MCM10","entity_type":"gene"},{"created":"2020-09-04T21:15:42.008519+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM10 as ready","entity_name":"MCM10","entity_type":"gene"},{"created":"2020-09-04T21:15:41.998496+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm10 has been classified as Red List (Low Evidence).","entity_name":"MCM10","entity_type":"gene"},{"created":"2020-09-04T21:15:39.097112+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MCM10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM10","entity_type":"gene"},{"created":"2020-09-04T21:14:57.250412+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCM10 was added\ngene: MCM10 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: MCM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MCM10 were set to 32865517\nPhenotypes for gene: MCM10 were set to Susceptibility to CMV\nReview for gene: MCM10 was set to RED\nAdded comment: Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV. \nSources: Literature","entity_name":"MCM10","entity_type":"gene"},{"created":"2020-09-04T21:13:22.865299+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TET2 as ready","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:13:22.857149+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tet2 has been classified as Green List (High Evidence).","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:12:58.446890+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TET2 as Green List (high evidence)","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:12:58.436851+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tet2 has been classified as Green List (High Evidence).","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:12:30.818552+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TET2 was added\ngene: TET2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: TET2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TET2 were set to 32518946\nPhenotypes for gene: TET2 were set to Immune dysregulation; Lymphoma\nReview for gene: TET2 was set to GREEN\nAdded comment: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2. \nSources: Literature","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:10:51.953292+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4229","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.; to: Mono-allelic variants: Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:10:34.100305+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4229","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association study (PMID 32330418) found enrichment of non-coding and LoF TET2 variants in cohort of individuals with early onset dementia, unclear if this is monogenic or polygenic contribution.; to: Mono-allelic variants: Association study (PMID 32330418) found enrichment of non-coding and LoF TET2 variants in cohort of individuals with early onset dementia, unclear if this is monogenic or polygenic contribution.","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:10:20.986242+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4229","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 32518946: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.; to: Bi-allelic variants PMID 32518946: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:10:05.949563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4229","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.; to: Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:09:40.468664+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4229","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TET2: Added comment: PMID 32518946: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.; Changed rating: GREEN; Changed publications: 30890702, 31827242, 32330418, 32518946; Changed phenotypes: Dementia, Lymphoma/myeloid malignancy, Immunodeficiency; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TET2","entity_type":"gene"},{"created":"2020-09-04T21:06:33.055894+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASK as ready","entity_name":"CASK","entity_type":"gene"},{"created":"2020-09-04T21:06:33.043368+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cask has been classified as Green List (High Evidence).","entity_name":"CASK","entity_type":"gene"},{"created":"2020-09-04T21:05:20.392469+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASK were changed from  to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749","entity_name":"CASK","entity_type":"gene"},{"created":"2020-09-04T21:05:00.842711+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CASK were set to ","entity_name":"CASK","entity_type":"gene"},{"created":"2020-09-04T21:04:36.648695+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.477","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CASK was changed from Unknown to Other","entity_name":"CASK","entity_type":"gene"},{"created":"2020-09-04T21:04:09.422635+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.476","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21954287, 19165920, 21735175; Phenotypes: Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: Other","entity_name":"CASK","entity_type":"gene"},{"created":"2020-09-04T21:01:02.263727+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.476","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATR as ready","entity_name":"ATR","entity_type":"gene"},{"created":"2020-09-04T21:01:02.234783+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.476","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atr has been classified as Green List (High Evidence).","entity_name":"ATR","entity_type":"gene"},{"created":"2020-09-04T21:00:59.976423+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.476","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATR were changed from  to Seckel syndrome 1, MIM# 210600","entity_name":"ATR","entity_type":"gene"},{"created":"2020-09-04T21:00:41.516223+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATR were set to ","entity_name":"ATR","entity_type":"gene"},{"created":"2020-09-04T21:00:16.102322+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.474","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATR","entity_type":"gene"},{"created":"2020-09-04T20:59:44.635124+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATR","entity_type":"gene"},{"created":"2020-09-04T20:46:40.722371+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YIF1B was added\ngene: YIF1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098; 26077767\nPhenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement\nReview for gene: YIF1B was set to GREEN\nAdded comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function. \nSources: Expert Review","entity_name":"YIF1B","entity_type":"gene"},{"created":"2020-09-04T20:39:27.906352+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UGP2: Changed rating: GREEN","entity_name":"UGP2","entity_type":"gene"},{"created":"2020-09-04T20:39:04.324693+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angelman syndrome MIM#105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"UBE3A","entity_type":"gene"},{"created":"2020-09-04T20:38:48.323228+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UBE3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"UBE3A","entity_type":"gene"},{"created":"2020-09-04T20:29:33.558367+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DYNC1I2 was added\ngene: DYNC1I2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC1I2 were set to 31079899\nPhenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies\t, MIM#618492\nReview for gene: DYNC1I2 was set to GREEN\nAdded comment: Five individuals from three unrelated families reported. \nSources: Expert Review","entity_name":"DYNC1I2","entity_type":"gene"},{"created":"2020-09-04T20:25:08.876229+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM1","entity_type":"gene"},{"created":"2020-09-04T20:22:57.550967+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNMT3A: Changed rating: GREEN","entity_name":"DNMT3A","entity_type":"gene"},{"created":"2020-09-04T20:04:24.972631+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXG1 as ready","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:04:24.961991+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxg1 has been classified as Green List (High Evidence).","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:04:11.375946+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXG1 were changed from  to Rett syndrome, congenital variant, MIM# 613454","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:03:44.998282+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXG1 were set to ","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:03:23.954809+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:02:59.476517+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21441262, 19564653, 19578037; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:01:23.656377+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXG1 as ready","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:01:23.644870+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxg1 has been classified as Green List (High Evidence).","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:01:04.942487+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXG1 were changed from  to Rett syndrome, congenital variant, MIM# 613454","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:00:43.280202+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXG1 were set to ","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T20:00:00.954850+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T19:59:35.085440+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FOXG1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T19:59:25.520056+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXG1: Rating: ; Mode of pathogenicity: None; Publications: 21441262, 19564653, 19578037; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: None","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-04T19:56:43.848495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FDXR as ready","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:56:43.837128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Green List (High Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:56:34.165120+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FDXR were changed from  to Auditory neuropathy and optic atrophy, MIM#617717","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:56:16.003805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4228","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to ","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:55:58.744923+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4227","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:55:37.928620+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4226","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FDXR: Added comment: Four families reported with bi-allelic variants in FDXR causing an autosomal recessive neurologic disorder characterised by onset of visual and hearing impairment in the first or second decades. Two individuals described with a more severe progressive neurological phenotype. Mouse model exhibits neurodegeneration.; Changed rating: GREEN; Changed publications: 30250212, 28965846","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:53:29.272830+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FDXR as ready","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:53:29.261464+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Amber List (Moderate Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:53:26.811355+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FDXR were changed from  to Auditory neuropathy and optic atrophy, MIM# 617717","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:53:03.986838+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to ","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:52:33.139317+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:52:10.860629+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FDXR as Amber List (moderate evidence)","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:52:10.850774+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Amber List (Moderate Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:51:40.918338+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FDXR: Rating: AMBER; Mode of pathogenicity: None; Publications: 30250212; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:49:29.048337+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2959","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to ","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:48:48.437702+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2958","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID is not part of the phenotype.; to: Bi-allelic variants in FDXR cause an autosomal recessive neurologic disorder characterised by onset of visual and hearing impairment in the first or second decades. Two individuals described with a more severe phenotype, including one with intellectual disability.","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:47:56.571657+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2958","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FDXR: Changed publications: 30250212","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:46:26.780164+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FDXR as ready","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:46:26.769222+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Red List (Low Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:46:17.049315+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FDXR were changed from  to Auditory neuropathy and optic atrophy, MIM# 617717","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:45:53.207223+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.468","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to ","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:45:23.628924+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:07:51.977650+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FDXR as Red List (low evidence)","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:07:51.968934+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Red List (Low Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:07:29.185114+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.465","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FDXR: Rating: RED; Mode of pathogenicity: None; Publications: 30250212; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-09-04T19:01:44.200735+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOC7 as ready","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-09-04T19:01:44.192299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exoc7 has been classified as Green List (High Evidence).","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-09-04T19:01:36.353579+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4226","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXOC7 as Green List (high evidence)","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-09-04T19:01:36.343321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exoc7 has been classified as Green List (High Evidence).","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-09-04T18:58:17.123772+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2958","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2S3 as ready","entity_name":"EIF2S3","entity_type":"gene"},{"created":"2020-09-04T18:58:17.115171+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2s3 has been classified as Green List (High Evidence).","entity_name":"EIF2S3","entity_type":"gene"},{"created":"2020-09-04T18:58:12.221621+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2958","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EIF2S3 were changed from  to MEHMO syndrome, MIM# 300148","entity_name":"EIF2S3","entity_type":"gene"}]}