{"count":220403,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=952","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=950","results":[{"created":"2022-03-03T11:34:40.966833+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1458","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tiam1 has been classified as Green List (High Evidence).","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:34:37.395319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11093","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZBTB7A as Green List (high evidence)","entity_name":"ZBTB7A","entity_type":"gene"},{"created":"2022-03-03T11:34:37.384185+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11093","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb7a has been classified as Green List (High Evidence).","entity_name":"ZBTB7A","entity_type":"gene"},{"created":"2022-03-03T11:34:11.617333+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1458","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: TIAM1 as Green List (high evidence)","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:34:11.606039+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1458","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tiam1 has been classified as Green List (High Evidence).","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:33:27.161594+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1457","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TIAM1 as ready","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:33:27.150713+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1457","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tiam1 has been classified as Red List (Low Evidence).","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:33:26.433302+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Michelle Torres","item_type":"entity","text":"gene: CRLS1 was added\ngene: CRLS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRLS1 were set to 35147173\nPhenotypes for gene: CRLS1 were set to Mitochondrial disease MONDO:0044970 CRLS1-related\nAdded comment: - Three families (4 individuals) with cardiolipin deficiency.\r\n- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.\r\n- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.\r\n- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis \nSources: Literature","entity_name":"CRLS1","entity_type":"gene"},{"created":"2022-03-03T11:33:10.081479+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROBO1 were changed from CAKUT to Syndromic disease, MONDO:0002254; CAKUT","entity_name":"ROBO1","entity_type":"gene"},{"created":"2022-03-03T11:33:03.345792+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.325","user_name":"Chern Lim","item_type":"entity","text":"gene: ATP6V0A1 was added\ngene: ATP6V0A1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ATP6V0A1 were set to PMID:34909687\nPhenotypes for gene: ATP6V0A1 were set to Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-associated\nReview for gene: ATP6V0A1 was set to GREEN\ngene: ATP6V0A1 was marked as current diagnostic\nAdded comment: PMID: 34909687\r\n-\t17 individuals from 14 unrelated families: 5 affected individuals with biallelic variants, presented with early-onset progressive myoclonus epilepsy with ataxia; 12 individuals carried de novo missense variants and showed severe developmental and epileptic encephalopathy.\r\n-\tThe mean age of onset was 11.8+/-7.5 years for individuals carrying the compound heterozygous variants and 5.8+/-4.2 months for individuals with the de novo variants.\r\n-\tThe R740Q variant, which alone accounts for ~50% of the mutations identified among our cases, leads to failure of lysosomal hydrolysis by directly impairing acidification of the endolysosomal compartment, causing autophagic dysfunction and severe developmental defect in C. elegans. \nSources: Literature","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:33:02.608672+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1457","user_name":"Alison Yeung","item_type":"entity","text":"gene: TIAM1 was added\ngene: TIAM1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TIAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TIAM1 were set to Neurodevelopmental disorder, TIAM1-related, MONDO:0700092\nReview for gene: TIAM1 was set to GREEN\nAdded comment: Reported in 4 unrelated individuals. Phenotype of developmental delay/intellectual disability and seizures. Loss of ortholog in Drosophila reduces the survival rate, and the surviving adults exhibit climbing defects, are prone to severe seizures, and have a short lifespan. Functional studies in 3 variants from two probands showed loss of function. \nSources: Literature","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:32:16.770785+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROBO1 as ready","entity_name":"ROBO1","entity_type":"gene"},{"created":"2022-03-03T11:32:16.749526+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: robo1 has been classified as Green List (High Evidence).","entity_name":"ROBO1","entity_type":"gene"},{"created":"2022-03-03T11:32:08.061504+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ROBO1 as Green List (high evidence)","entity_name":"ROBO1","entity_type":"gene"},{"created":"2022-03-03T11:32:08.050221+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: robo1 has been classified as Green List (High Evidence).","entity_name":"ROBO1","entity_type":"gene"},{"created":"2022-03-03T11:32:01.945633+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.119","user_name":"Elena Savva","item_type":"entity","text":"gene: HIST1H4I was added\ngene: HIST1H4I was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: HIST1H4I was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4I were set to PMID: 35202563\nPhenotypes for gene: HIST1H4I were set to Neurodevelopmental disorders\nReview for gene: HIST1H4I was set to AMBER\nAdded comment: PMID: 35202563\r\n - 3 unrelated de novo patients, p.His75Arg was recurring and observed in 2/3 probands. \r\n- Zebrafish study shows both variants resulted in a significant increases in developmental issues such as in mild dev delay, necrosis and defective organogenesis.\r\n- All patients had intellectual disability and motor and/or gross developmental delay and dysmorphisms. \r\n- 2/3 patients showed bilateral conductive hearing loss \nSources: Literature","entity_name":"HIST1H4I","entity_type":"gene"},{"created":"2022-03-03T11:31:54.321256+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4515","user_name":"Elena Savva","item_type":"entity","text":"gene: HIST1H4I was added\ngene: HIST1H4I was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HIST1H4I was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4I were set to PMID: 35202563\nPhenotypes for gene: HIST1H4I were set to Neurodevelopmental syndrome\nReview for gene: HIST1H4I was set to GREEN\nAdded comment: PMID: 35202563\r\n - 3 unrelated de novo patients, p.His75Arg was recurring and observed in 2/3 probands. \r\n- Zebrafish study shows both variants resulted in a significant increases in developmental issues such as in mild dev delay, necrosis and defective organogenesis.\r\n- All patients had intellectual disability and motor and/or gross developmental delay and dysmorphisms. \r\n- 2/3 patients showed bilateral conductive hearing loss \nSources: Literature","entity_name":"HIST1H4I","entity_type":"gene"},{"created":"2022-03-03T11:31:48.704767+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1456","user_name":"Chern Lim","item_type":"entity","text":"gene: ATP6V0A1 was added\ngene: ATP6V0A1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ATP6V0A1 were set to PMID:34909687\nPhenotypes for gene: ATP6V0A1 were set to Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-associated\nReview for gene: ATP6V0A1 was set to GREEN\ngene: ATP6V0A1 was marked as current diagnostic\nAdded comment: PMID: 34909687\r\n-\t17 individuals from 14 unrelated families: 5 affected individuals with biallelic variants, presented with early-onset progressive myoclonus epilepsy with ataxia; 12 individuals carried de novo missense variants and showed severe developmental and epileptic encephalopathy.\r\n-\tThe mean age of onset was 11.8+/-7.5 years for individuals carrying the compound heterozygous variants and 5.8+/-4.2 months for individuals with the de novo variants. \nSources: Literature","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:30:52.562808+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4515","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TIAM1 as ready","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:30:52.548692+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4515","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tiam1 has been classified as Green List (High Evidence).","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:30:46.615861+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Elena Savva","item_type":"entity","text":"gene: HIST1H4I was added\ngene: HIST1H4I was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HIST1H4I was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4I were set to PMID: 35202563\nPhenotypes for gene: HIST1H4I were set to Neurodevelopmental syndrome\nReview for gene: HIST1H4I was set to GREEN\nAdded comment: PMID: 35202563\r\n - 3 unrelated de novo patients, p.His75Arg was recurring and observed in 2/3 probands. \r\n- Zebrafish study shows both variants resulted in a significant increases in developmental issues such as in mild dev delay, necrosis and defective organogenesis.\r\n- All patients had intellectual disability and motor and/or gross developmental delay and dysmorphisms. \r\n- 2/3 patients showed bilateral conductive hearing loss \nSources: Literature","entity_name":"HIST1H4I","entity_type":"gene"},{"created":"2022-03-03T11:30:40.367247+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Dean Phelan","item_type":"entity","text":"gene: NAV2 was added\ngene: NAV2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NAV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAV2 were set to PMID:35218524\nPhenotypes for gene: NAV2 were set to Developmental delay; cerebellar hypoplasia; cerebellar dysplasia\nReview for gene: NAV2 was set to AMBER\nAdded comment: PMID:35218524\r\n- Two compound heterozygous LOF variants identified in one female with developmental delay and a diagnosis of cerebellar hypoplasia and dysplasia. Functional studies showed cellular migration deficits. Hypomorphic mouse model revealed developmental anomalies including cerebellar hypoplasia and dysplasia, corpus callosum hypo-dysgenesis, and agenesis of the olfactory bulbs. \nSources: Literature","entity_name":"NAV2","entity_type":"gene"},{"created":"2022-03-03T11:30:27.217749+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: ZBTB7A was added\ngene: ZBTB7A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB7A were set to 34515416; 31645653\nPhenotypes for gene: ZBTB7A were set to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769)\nReview for gene: ZBTB7A was set to GREEN\nAdded comment: PMID: 34515416. Monoallelic ZBTB7A variants identified in 12 individuals from 11 families, with macrocephaly (11/12), some degree of ID (12/12), autistic features (7/12) and hypertrophy of pharyngeal lymphoid tissue (12/12). Variants included LoF variants and missense, 8 variants were de novo. \r\n\r\nPMID: 31645653. De novo ZBTB7A missense identified in a boy with macrocephaly, intellectual disability, and sleep apnea. \nSources: Expert list","entity_name":"ZBTB7A","entity_type":"gene"},{"created":"2022-03-03T11:30:24.999493+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4515","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: TIAM1 as Green List (high evidence)","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:30:24.988349+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4515","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tiam1 has been classified as Green List (High Evidence).","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:30:12.348462+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4514","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V0A1 as ready","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:30:12.328134+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4514","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v0a1 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:29:34.983078+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4514","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V0A1 were changed from Developmental disorder; Rett syndrome-like to Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-related","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:29:02.794088+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4513","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP6V0A1 were set to 30842224; 33057194","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:28:50.208517+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Chern Lim","item_type":"entity","text":"edited their review of gene: ATP6V0A1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:28:26.205437+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:34909687; Phenotypes: Neurodevelopmental disorder MONDO:0700092, ATP6V0A1-associated; Mode of inheritance: None; Current diagnostic: yes","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:28:15.643056+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4512","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP6V0A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:27:47.226862+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4511","user_name":"Alison Yeung","item_type":"entity","text":"gene: TIAM1 was added\ngene: TIAM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TIAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TIAM1 were set to Neurodevelopmental disorder, TIAM1-related, MONDO:0700092\nReview for gene: TIAM1 was set to GREEN\nAdded comment: Reported in 4 unrelated individuals. Phenotype of developmental delay/intellectual disability and seizures. Loss of ortholog in Drosophila reduces the survival rate, and the surviving adults exhibit climbing defects, are prone to severe seizures, and have a short lifespan. Functional studies in 3 variants from two probands showed loss of function. \nSources: Literature","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:27:24.195960+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4511","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP6V0A1 as Green List (high evidence)","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:27:24.184123+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4511","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v0a1 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:25:59.593872+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.105","user_name":"Lucy Spencer","item_type":"entity","text":"gene: ROBO1 was added\ngene: ROBO1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: ROBO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ROBO1 were set to PMID: 35227688\nPhenotypes for gene: ROBO1 were set to CAKUT\nReview for gene: ROBO1 was set to GREEN\nAdded comment: Six unrelated individuals with biallelic truncating or combined missense and truncating variants in ROBO1. Also another family with three affected fetal cases who also had biallelic ROBO1 variants. Pregnancies terminated at 17, 22 and 26 weeks due to a mix i symptoms including anamnios, kidney agenesis associated with ventriculomegaly, polycystic kidneys, and heart defects. Dysmorphic features were also found on fetal examination. \r\n\r\nKidney and genitourinary manifestations in other patients included unilateral or bilateral kidney agenesis, vesicoureteral junction obstruction, vesicoureteral reflux, posterior urethral valve, genital malformation, and increased kidney echogenicity \nSources: Literature","entity_name":"ROBO1","entity_type":"gene"},{"created":"2022-03-03T11:24:06.151288+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TIAM1 as ready","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:24:06.141171+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tiam1 has been classified as Green List (High Evidence).","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:23:53.754757+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4510","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:34909687; Phenotypes: Early-onset progressive myoclonus epilepsy with ataxia, AR, severe developmental and epileptic encephalopathy, AD.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-03-03T11:23:51.232378+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EHD1 as ready","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:23:51.221169+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehd1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:23:47.285507+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EHD1 as Amber List (moderate evidence)","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:23:47.276262+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehd1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:23:19.356608+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: TIAM1 as Green List (high evidence)","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:23:19.336710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11092","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tiam1 has been classified as Green List (High Evidence).","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:23:16.360628+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.118","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EHD1 was added\ngene: EHD1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: EHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EHD1 were set to 35149593\nPhenotypes for gene: EHD1 were set to Inherited renal tubular disease, MONDO:0015962, EHD1-related\nReview for gene: EHD1 was set to AMBER\nAdded comment: Six individuals (5-33 years) with proteinuria and a high-frequency hearing deficit reported with the homozygous missense variant c.1192C>T (p.R398W) in EHD1. Proteinuria (0.7-2.1 g/d) consisted predominantly of low molecular weight proteins, reflecting impaired renal proximal tubular endocytosis of filtered proteins. Ehd1 knockout and Ehd1R398W/R398W knockin mice also showed a high-frequency hearing deficit and impaired receptor-mediated endocytosis in proximal tubules, and a zebrafish model showed impaired ability to reabsorb low molecular weight dextran.\r\n\r\nSingle founder variant but two animal models, hence Amber \nSources: Literature","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:22:51.735729+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11091","user_name":"Alison Yeung","item_type":"entity","text":"gene: TIAM1 was added\ngene: TIAM1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TIAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TIAM1 were set to https://doi.org/10.1016/j.ajhg.2022.01.020\nPhenotypes for gene: TIAM1 were set to Neurodevelopmental disorder, TIAM1-related, MONDO:0700092\nReview for gene: TIAM1 was set to GREEN\nAdded comment: Reported in 4 unrelated individuals. Phenotype of developmental delay/intellectual disability and seizures. Loss of ortholog in Drosophila reduces the survival rate, and the surviving adults exhibit climbing defects, are prone to severe seizures, and have a short lifespan. Functional studies in 3 variants from two probands showed loss of function. \nSources: Literature","entity_name":"TIAM1","entity_type":"gene"},{"created":"2022-03-03T11:22:31.786873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11090","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: HIST1H4J: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35202563, 31804630; Phenotypes: Neurodevelopmental syndrome, microcephaly, intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"HIST1H4J","entity_type":"gene"},{"created":"2022-03-03T11:21:48.422687+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11090","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EHD1 as ready","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:21:48.411903+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11090","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehd1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:21:37.635703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11090","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EHD1 as Amber List (moderate evidence)","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:21:37.623622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11090","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehd1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:20:58.657316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11089","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EHD1 was added\ngene: EHD1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EHD1 were set to 35149593\nPhenotypes for gene: EHD1 were set to Inherited renal tubular disease, MONDO:0015962, EHD1-related\nReview for gene: EHD1 was set to AMBER\nAdded comment: Six individuals (5-33 years) with proteinuria and a high-frequency hearing deficit reported with the homozygous missense variant c.1192C>T (p.R398W) in EHD1. Proteinuria (0.7-2.1 g/d) consisted predominantly of low molecular weight proteins, reflecting impaired renal proximal tubular endocytosis of filtered proteins. Ehd1 knockout and Ehd1R398W/R398W knockin mice also showed a high-frequency hearing deficit and impaired receptor-mediated endocytosis in proximal tubules, and a zebrafish model showed impaired ability to reabsorb low molecular weight dextran. Single founder variant but two animal models, hence Amber \nSources: Literature","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:20:36.143027+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EHD1 as ready","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:20:36.128619+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehd1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:20:29.982681+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EHD1 as Amber List (moderate evidence)","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:20:29.973408+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehd1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:20:29.951017+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EHD1 as ready","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:20:29.939540+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehd1 has been classified as Red List (Low Evidence).","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T11:20:19.049354+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4510","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: HIST1H4J: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35202563, 31804630; Phenotypes: Neurodevelopmental syndrome, microcephaly, intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"HIST1H4J","entity_type":"gene"},{"created":"2022-03-03T11:17:12.919648+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EHD1 was added\ngene: EHD1 was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: EHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EHD1 were set to 35149593\nPhenotypes for gene: EHD1 were set to Inherited renal tubular disease, MONDO:0015962, EHD1-related\nReview for gene: EHD1 was set to AMBER\nAdded comment: Six individuals (5-33 years) with proteinuria and a high-frequency hearing deficit reported with the homozygous missense variant c.1192C>T (p.R398W) in EHD1. Proteinuria (0.7-2.1 g/d) consisted predominantly of low molecular weight proteins, reflecting impaired renal proximal tubular endocytosis of filtered proteins. Ehd1 knockout and Ehd1R398W/R398W knockin mice also showed a high-frequency hearing deficit and impaired receptor-mediated endocytosis in proximal tubules, and a zebrafish model showed impaired ability to reabsorb low molecular weight dextran.\r\n\r\nSingle founder variant but two animal models, hence Amber \nSources: Literature","entity_name":"EHD1","entity_type":"gene"},{"created":"2022-03-03T10:57:08.877043+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4686","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYNCRIP as ready","entity_name":"SYNCRIP","entity_type":"gene"},{"created":"2022-03-03T10:57:08.867524+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4686","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syncrip has been classified as Red List (Low Evidence).","entity_name":"SYNCRIP","entity_type":"gene"},{"created":"2022-03-03T10:57:01.447740+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4686","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SYNCRIP was added\ngene: SYNCRIP was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: SYNCRIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SYNCRIP were set to 34157790\nPhenotypes for gene: SYNCRIP were set to SYNCRIP-related neurodevelopmental disorder\nReview for gene: SYNCRIP was set to RED\nAdded comment: One of 8 individuals reported so far had PVNH. Other features present post-natally. \nSources: Expert Review","entity_name":"SYNCRIP","entity_type":"gene"},{"created":"2022-03-03T10:54:24.310910+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4685","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIDD1 as Green List (high evidence)","entity_name":"PIDD1","entity_type":"gene"},{"created":"2022-03-03T10:54:24.299806+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4685","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pidd1 has been classified as Green List (High Evidence).","entity_name":"PIDD1","entity_type":"gene"},{"created":"2022-03-03T10:54:12.533826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4684","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachygyria, Lissencephaly, Abnormality of the corpus callosum; Mode of inheritance: None","entity_name":"PIDD1","entity_type":"gene"},{"created":"2022-03-03T10:51:44.780937+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4684","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DEPDC5 as Green List (high evidence)","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-03-03T10:51:44.771246+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4684","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: depdc5 has been classified as Green List (High Evidence).","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-03-03T10:51:26.500434+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4683","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-03-03T10:27:16.446326+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4683","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: AR were changed from Androgen insensitivity, MIM# 300068 to Androgen insensitivity, MIM# 300068; Androgen insensitivity syndrome, MONDO:0019154","entity_name":"AR","entity_type":"gene"},{"created":"2022-03-03T10:26:45.495286+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4682","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity, MIM# 300068, Androgen insensitivity syndrome, MONDO:0019154; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AR","entity_type":"gene"},{"created":"2022-03-03T10:20:13.875654+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4682","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4B1","entity_type":"gene"},{"created":"2022-03-03T10:15:32.101442+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4682","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANKS6","entity_type":"gene"},{"created":"2022-03-03T10:10:21.379574+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4682","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ANGPT2 were changed from Hydrops; Lymphatic malformation-10, MIM#619369 to Hydrops fetalis, MONDO:0015193; Lymphatic malformation-10, MIM#619369","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-03-03T10:06:43.199913+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4681","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ALDH1A2 were changed from Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; thymus aplasia to Multiple congenital anomalies, ALDH1A2-related, MONDO:0019042","entity_name":"ALDH1A2","entity_type":"gene"},{"created":"2022-03-03T09:59:57.097418+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4679","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ALB were changed from Analbuminemia- MIM#616000 to Analbuminemia, MIM#616000","entity_name":"ALB","entity_type":"gene"},{"created":"2022-03-03T09:58:01.773647+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4678","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ADGRG6 were changed from Lethal congenital contracture syndrome 9; OMIM #616503 to Lethal congenital contracture syndrome 9, OMIM #616503","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2022-03-03T09:56:15.880936+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4677","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ADAMTS19 were changed from Heart valve disease (HVD) to Heart valve disorder, MONDO:0002869","entity_name":"ADAMTS19","entity_type":"gene"},{"created":"2022-03-03T09:55:36.895778+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4676","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLK1 as ready","entity_name":"PLK1","entity_type":"gene"},{"created":"2022-03-03T09:55:36.885615+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4676","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2022-03-03T09:55:31.150527+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4676","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLK1 as Amber List (moderate evidence)","entity_name":"PLK1","entity_type":"gene"},{"created":"2022-03-03T09:55:31.140948+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4676","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2022-03-03T09:54:52.660882+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4675","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGH as Green List (high evidence)","entity_name":"PIGH","entity_type":"gene"},{"created":"2022-03-03T09:54:52.646503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4675","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigh has been classified as Green List (High Evidence).","entity_name":"PIGH","entity_type":"gene"},{"created":"2022-03-03T09:54:39.824749+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4674","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGH","entity_type":"gene"},{"created":"2022-03-03T09:53:50.871700+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4674","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGH as ready","entity_name":"PIGH","entity_type":"gene"},{"created":"2022-03-03T09:53:50.860207+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4674","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigh has been classified as Amber List (Moderate Evidence).","entity_name":"PIGH","entity_type":"gene"},{"created":"2022-03-03T09:53:45.307835+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4674","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGH as Amber List (moderate evidence)","entity_name":"PIGH","entity_type":"gene"},{"created":"2022-03-03T09:53:45.294870+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4674","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigh has been classified as Amber List (Moderate Evidence).","entity_name":"PIGH","entity_type":"gene"},{"created":"2022-03-03T09:53:02.193153+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4673","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHC1 as ready","entity_name":"PHC1","entity_type":"gene"},{"created":"2022-03-03T09:53:02.176897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4673","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phc1 has been classified as Red List (Low Evidence).","entity_name":"PHC1","entity_type":"gene"},{"created":"2022-03-03T09:52:51.790003+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4673","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHC1 as Red List (low evidence)","entity_name":"PHC1","entity_type":"gene"},{"created":"2022-03-03T09:52:51.780253+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4673","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phc1 has been classified as Red List (Low Evidence).","entity_name":"PHC1","entity_type":"gene"},{"created":"2022-03-03T09:52:45.307548+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4672","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ADAMTS17 were changed from Weill-Marchesani 4 syndrome, recessive, 613195 to Weill-Marchesani 4 syndrome, recessive, MIM# 613195","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2022-03-03T09:52:15.196566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4671","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDCD6IP as ready","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2022-03-03T09:52:15.183871+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4671","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2022-03-03T09:52:09.513715+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4671","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD6IP as Amber List (moderate evidence)","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2022-03-03T09:52:09.501699+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4671","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2022-03-03T09:51:24.560069+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4670","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCYT2 as ready","entity_name":"PCYT2","entity_type":"gene"}]}