{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=597","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=595","results":[{"created":"2023-06-01T11:37:18.200925+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5235","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: U2AF2 as Green List (high evidence)","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:37:18.181807+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5235","user_name":"Elena Savva","item_type":"entity","text":"Gene: u2af2 has been classified as Green List (High Evidence).","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:35:37.569957+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.300","user_name":"Lilian Downie","item_type":"entity","text":"gene: NPR1 was added\ngene: NPR1 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: NPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPR1 were set to PMID: 37080586\nPhenotypes for gene: NPR1 were set to Genetic hypertension MONDO:0015512\nReview for gene: NPR1 was set to RED\nAdded comment: single family (4 affected infants) with neonatal hypertension/cardiogenic shock \r\n3/4 sibs had NT >3.5 \nSources: Literature","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:34:48.966059+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.898","user_name":"Sarah Pantaleo","item_type":"entity","text":"gene: POU3F2 was added\ngene: POU3F2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POU3F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POU3F2 were set to PMID: 37207645\nPhenotypes for gene: POU3F2 were set to Autism spectrum disorder, NDD, and adolescent-onset obesity\nPenetrance for gene: POU3F2 were set to unknown\nMode of pathogenicity for gene: POU3F2 was set to Other\nReview for gene: POU3F2 was set to GREEN\nAdded comment: We associate ultra-rare variants in POU3F2, encoding a central nervous system transcription factor, with syndromic obesity and neurodevelopment delay in 12 individuals. Demonstrate variant pathogenicity through in vitro analysis. Used exome sequencing, GeneMatcher and Genomics England 100,000 Genomes Project rare disease database.  \r\n\r\nBoth truncating and missense variants in over 10 individuals sharing autism spectrum disorder, NDD, and adolescent-onset obesity (may have had other features eg. CAKUT in 2 individuals, diabetes in two) . Affected individuals presented with low-to-normal birth weight and infantile feeding difficulties but developed insulin resistance and hyperplasia during childhood. With the exception of an early truncating variant, the variants showed adequate nuclear translocation but overall disturbed DNA-binding ability and promoter activation.\r\n\r\nVariants absent from population and clinical databases. Almost all constituted putatively non-inherited de novo variants (8/10). \r\n\r\nFunctional studies provide evidence for loss of function in eight and gain of function in one obesity-associated POU3F2 variant. One variant did not impact POU3F2-promoter activation, leaving the possibility for further path-mechanisms. \nSources: Literature","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:33:38.866588+10:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.13","user_name":"Lilian Downie","item_type":"entity","text":"gene: NPR1 was added\ngene: NPR1 was added to Hypertension and Aldosterone disorders. Sources: Literature\nMode of inheritance for gene: NPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPR1 were set to PMID: 37080586\nPhenotypes for gene: NPR1 were set to Genetic hypertension MONDO:0015512\nReview for gene: NPR1 was set to GREEN\nAdded comment: 4 sibs with systemic hypertension in the neonatal period - presenting with cardiogenic shock, with homozygous variants (consanguineous parents), parents confirmed heterozygotes. 3/4 infants had increased NT (>3.5) in utero \r\nRT-PCR shows dramatic reduction of RNA levels \r\n2 sibs in a second family, normal NT and pregnancy, neonatal systematic hypertension presenting with cardiogenic shock, \nSources: Literature","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:33:14.692128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.898","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAP4K4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:33:07.983838+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.897","user_name":"Lucy Spencer","item_type":"entity","text":"gene: ACBD6 was added\ngene: ACBD6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACBD6 were set to 36457943; 21937992; 35446914\nPhenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related\nReview for gene: ACBD6 was set to GREEN\nAdded comment: PMID: 36457943\r\n2 siblings with a neurodevelopmental disorder: severely delayed development, obesity, pancytopenia, diabetes, liver cirrhosis, intravertebral disc herniation, mild brain atrophy. Consanguineous family both siblings found to have a homozygous frameshift.\r\n\r\nThis paper also mentioned 3 other reported variants in 6 individuals (only 3 unrelated) all homozygous, 2 frameshift, 1 canonical splice. All reported to have a neurodevelopmental disorder, some with limited information but one family also has obesity, spasticity, and dysmorphism. PMIDs: 21937992, 35446914 \nSources: Literature","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:32:40.049439+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.897","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP4K4 as Green List (high evidence)","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:32:40.041094+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.897","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Green List (High Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:31:42.527034+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.896","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34112922, 37092751, 36747105, 37134193; Phenotypes: Neurodevelopmental disorder, U2AF2-related (MONDO:0700092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:31:23.024286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.896","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAP4K4: Added comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies.; Changed rating: GREEN; Changed publications: 37126546; Changed phenotypes: RASopathy, MONDO:0021060, MAP4K4-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:31:20.159803+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5234","user_name":"Lucy Spencer","item_type":"entity","text":"gene: ACBD6 was added\ngene: ACBD6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACBD6 were set to 36457943; 21937992; 35446914\nPhenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related\nReview for gene: ACBD6 was set to GREEN\nAdded comment: PMID: 36457943\r\n2 siblings with a neurodevelopmental disorder: severely delayed development, obesity, pancytopenia, diabetes, liver cirrhosis, intravertebral disc herniation, mild brain atrophy. Consanguineous family both siblings found to have a homozygous frameshift.\r\n\r\nThis paper also mentioned 3 other reported variants in 6 individuals (only 3 unrelated) all homozygous, 2 frameshift, 1 canonical splice. All reported to have a neurodevelopmental disorder, some with limited information but one family also has obesity, spasticity, and dysmorphism. PMIDs: 21937992, 35446914 \nSources: Literature","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:31:19.697869+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5234","user_name":"Sarah Pantaleo","item_type":"entity","text":"commented on gene: POU3F2: Both loss of function and gain of function demonstrated","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:31:09.810502+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP4K4 as ready","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:31:09.792205+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Green List (High Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:30:59.387762+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5234","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: U2AF2: Changed publications: 34112922, 37092751, 36747105, 37134193","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:30:58.729694+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5234","user_name":"Sarah Pantaleo","item_type":"entity","text":"gene: POU3F2 was added\ngene: POU3F2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: POU3F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POU3F2 were set to PMID: 37207645\nPhenotypes for gene: POU3F2 were set to Autism spectrum disorder, NDD, and adolescent-onset obesity\nPenetrance for gene: POU3F2 were set to unknown\nMode of pathogenicity for gene: POU3F2 was set to Other\nReview for gene: POU3F2 was set to GREEN\nAdded comment: We associate ultra-rare variants in POU3F2, encoding a central nervous system transcription factor, with syndromic obesity and neurodevelopment delay in 12 individuals. Demonstrate variant pathogenicity through in vitro analysis. Used exome sequencing, GeneMatcher and Genomics England 100,000 Genomes Project rare disease database.  \r\n\r\nBoth truncating and missense variants in over 10 individuals sharing autism spectrum disorder, NDD, and adolescent-onset obesity (may have had other features eg. CAKUT in 2 individuals, diabetes in two) . Affected individuals presented with low-to-normal birth weight and infantile feeding difficulties but developed insulin resistance and hyperplasia during childhood. With the exception of an early truncating variant, the variants showed adequate nuclear translocation but overall disturbed DNA-binding ability and promoter activation.\r\n\r\nVariants absent from population and clinical databases. Almost all constituted putatively non-inherited de novo variants (8/10). \r\n\r\nFunctional studies provide evidence for loss of function in eight and gain of function in one obesity-associated POU3F2 variant. One variant did not impact POU3F2-promoter activation, leaving the possibility for further path-mechanisms. \nSources: Literature","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:30:48.820437+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1851","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: U2AF2: Changed publications: 34112922, 37092751, 36747105, 37134193","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:29:55.825698+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1851","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34112922,37092751,36747105,37134193; Phenotypes: Neurodevelopmental disorder, U2AF2-related (MONDO:0700092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:29:12.761364+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.111","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP4K4 as Green List (high evidence)","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:29:12.754238+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Green List (High Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:29:09.789820+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5234","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: U2AF2: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder, U2AF2-related (MONDO:0700092); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:29:00.575228+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.110","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP4K4 was added\ngene: MAP4K4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP4K4 were set to 37126546\nPhenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related\nReview for gene: MAP4K4 was set to GREEN\nAdded comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies. \nSources: Literature","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:28:03.944110+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5234","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: U2AF2: Rating: ; Mode of pathogenicity: None; Publications: 34112922,37092751,36747105,37134193; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:27:44.839309+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5234","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP4K4 were changed from  to RASopathy, MONDO:0021060, MAP4K4-related","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:27:19.898075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.896","user_name":"Elena Savva","item_type":"entity","text":"gene: CHRM5 was added\ngene: CHRM5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CHRM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRM5 were set to 37213061\nPhenotypes for gene: CHRM5 were set to Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related\nReview for gene: CHRM5 was set to RED\nAdded comment: PMID: 37213061 \r\n- homozygous missense p.(Q184R) in a proband with neurogenic bladder and CAKUT. Additional features were small trabeculated urinary bladder, bilateral severe hydronephrosis, grade V VUR right, chronic kidney disease (stage 4).\r\n- Radioligand binding experiments were inconclusive - the missense variant had no effect on receptor expression or binding affinity.\r\n- ACh binding assay did show a 2-fold increase (borderline significant), but no effect in secondary messenger accumulation. \r\n- Transfected CHO line showed no effect on receptor expression\r\n- Described a mouse K/O as having a bladder overactivity\r\n\r\nNo hom PTCs in gnomAD \nSources: Literature","entity_name":"CHRM5","entity_type":"gene"},{"created":"2023-06-01T11:26:56.565928+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5233","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAP4K4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:26:40.942062+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.130","user_name":"Elena Savva","item_type":"entity","text":"gene: CHRM5 was added\ngene: CHRM5 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: CHRM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRM5 were set to 37213061\nPhenotypes for gene: CHRM5 were set to Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related\nReview for gene: CHRM5 was set to RED\nAdded comment: PMID: 37213061 \r\n- homozygous missense p.(Q184R) in a proband with neurogenic bladder and CAKUT. Additional features were small trabeculated urinary bladder, bilateral severe hydronephrosis, grade V VUR right, chronic kidney disease (stage 4).\r\n- Radioligand binding experiments were inconclusive - the missense variant had no effect on receptor expression or binding affinity.\r\n- ACh binding assay did show a 2-fold increase (borderline significant), but no effect in secondary messenger accumulation. \r\n- Transfected CHO line showed no effect on receptor expression\r\n- Described a mouse K/O as having a bladder overactivity\r\n\r\nNo hom PTCs in gnomAD \nSources: Literature","entity_name":"CHRM5","entity_type":"gene"},{"created":"2023-06-01T11:26:30.175658+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5233","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAP4K4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:26:21.795332+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.130","user_name":"Elena Savva","item_type":"entity","text":"gene: CHRM5 was added\ngene: CHRM5 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: CHRM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRM5 were set to 37213061\nPhenotypes for gene: CHRM5 were set to Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related\nReview for gene: CHRM5 was set to RED\nAdded comment: PMID: 37213061 \r\n- homozygous missense p.(Q184R) in a proband with neurogenic bladder and CAKUT. Additional features were small trabeculated urinary bladder, bilateral severe hydronephrosis, grade V VUR right, chronic kidney disease (stage 4).\r\n- Radioligand binding experiments were inconclusive - the missense variant had no effect on receptor expression or binding affinity.\r\n- ACh binding assay did show a 2-fold increase (borderline significant), but no effect in secondary messenger accumulation. \r\n- Transfected CHO line showed no effect on receptor expression\r\n- Described a mouse K/O as having a bladder overactivity\r\n\r\nNo hom PTCs in gnomAD \nSources: Literature","entity_name":"CHRM5","entity_type":"gene"},{"created":"2023-06-01T11:26:21.390389+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP4K4 as ready","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:26:21.377147+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Green List (High Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:25:48.125241+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP4K4 as Green List (high evidence)","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:25:48.111813+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Green List (High Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:25:11.620290+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP4K4 was added\ngene: MAP4K4 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP4K4 were set to 37126546\nPhenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related\nReview for gene: MAP4K4 was set to GREEN\nAdded comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies. \nSources: Literature","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:23:24.155747+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5232","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAP4K4 were set to 37126546","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:23:04.932009+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5232","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAP4K4 were set to ","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:22:14.970414+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5231","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP4K4 as Green List (high evidence)","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:22:14.959826+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5231","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Green List (High Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:21:42.664822+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5230","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: MAP4K4: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies.","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:21:32.653859+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP4K4 as ready","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:21:32.591373+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Green List (High Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:21:26.692694+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5230","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAP4K4: Changed rating: GREEN; Changed publications: 37126546; Changed phenotypes: RASopathy, MONDO:0021060, MAP4K4-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:20:47.699260+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.895","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SLC26A1: Rating: RED; Mode of pathogenicity: None; Publications: 36719378; Phenotypes: perichondritis, hyposulphatemia, renal sulphate wasting; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SLC26A1","entity_type":"gene"},{"created":"2023-06-01T11:20:29.094492+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP4K4 as Green List (high evidence)","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:20:29.083213+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Green List (High Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:19:12.452614+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP4K4 was added\ngene: MAP4K4 was added to Rasopathy. Sources: Literature\nMode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP4K4 were set to 37126546\nPhenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related\nReview for gene: MAP4K4 was set to GREEN\nAdded comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies. \nSources: Literature","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2023-06-01T11:18:34.051706+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.205","user_name":"Suliman Khan","item_type":"entity","text":"changed review comment from: Sources: Literature; to: PMID: 37198333 reported 5 unrelated families with de novo variants in MCM6 gene. Two patients with the same missense variant p.(Cys158Tyr) in zinc finger domain presented with intra-uterine growth retardation, short stature, congenital microcephaly, endocrine features, developmental delay and urogenital anomalies.\r\n\r\nIn other three unrelated individuals different de novo missense variants were identified in the oligo nucleotide binding (OB)-fold domain. These patients had variable neurodevelopmental features including autism spectrum disorder, developmental delay, and epilepsy.\r\n\r\nThe clinical features and functional defects related to the zinc binding residue resembled those observed in syndromes related to other MCM components and DNA replication factors (Meier–Gorlin syndrome and Seckel syndrome), while de novo OB-fold domain missense variants were associated with more variable neurodevelopmental phenotypes (PMID: 37198333).\r\nSources: Literature","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:17:58.877205+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.205","user_name":"Suliman Khan","item_type":"entity","text":"gene: MCM6 was added\ngene: MCM6 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: MCM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MCM6 were set to PMID: 37198333\nPhenotypes for gene: MCM6 were set to Neurodevelopmental disorder, MONDO:0700092, MCM6-related\nReview for gene: MCM6 was set to AMBER\nAdded comment: Sources: Literature","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-05-31T17:11:21.988708+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5230","user_name":"Suliman Khan","item_type":"entity","text":"gene: MCM6 was added\ngene: MCM6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MCM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MCM6 were set to PMID: 37198333\nPhenotypes for gene: MCM6 were set to Neurodevelopmental disorder, MONDO:0700092, MCM6-related\nReview for gene: MCM6 was set to GREEN\nAdded comment: PMID: 37198333 reported 5 unrelated families with de novo variants in MCM6 gene. Two patients with the same missense variant p.(Cys158Tyr) in zinc finger domain presented with intra-uterine growth retardation, short stature, congenital microcephaly, endocrine features, developmental delay and urogenital anomalies.\r\n\r\nIn other three unrelated individuals different de novo missense variants were identified in the oligo nucleotide binding (OB)-fold domain. These patients had variable neurodevelopmental features including autism spectrum disorder, developmental delay, and epilepsy.\r\n\r\nThe clinical features and functional defects related to the zinc binding residue resembled those observed in syndromes related to other MCM components and DNA replication factors (Meier–Gorlin syndrome and Seckel syndrome), while de novo OB-fold domain missense variants were associated with more variable neurodevelopmental phenotypes (PMID: 37198333). \nSources: Literature","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-05-31T17:11:13.910067+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB4B as ready","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-05-31T17:11:13.902318+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb4b has been classified as Red List (Low Evidence).","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-05-31T17:11:09.194438+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2169","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBB4B as Red List (low evidence)","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-05-31T17:11:09.170995+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb4b has been classified as Red List (Low Evidence).","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-05-31T17:10:37.366375+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SUFU as ready","entity_name":"SUFU","entity_type":"gene"},{"created":"2023-05-31T17:10:37.352715+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sufu has been classified as Red List (Low Evidence).","entity_name":"SUFU","entity_type":"gene"},{"created":"2023-05-31T17:10:32.465343+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2168","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SUFU as Red List (low evidence)","entity_name":"SUFU","entity_type":"gene"},{"created":"2023-05-31T17:10:32.454077+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sufu has been classified as Red List (Low Evidence).","entity_name":"SUFU","entity_type":"gene"},{"created":"2023-05-31T17:10:02.341661+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2167","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLITRK6 as ready","entity_name":"SLITRK6","entity_type":"gene"},{"created":"2023-05-31T17:10:02.328842+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slitrk6 has been classified as Green List (High Evidence).","entity_name":"SLITRK6","entity_type":"gene"},{"created":"2023-05-31T17:09:44.137460+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2167","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: SLITRK6.","entity_name":"SLITRK6","entity_type":"gene"},{"created":"2023-05-31T17:09:35.169914+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2167","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLITRK6 as Green List (high evidence)","entity_name":"SLITRK6","entity_type":"gene"},{"created":"2023-05-31T17:09:35.156914+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slitrk6 has been classified as Green List (High Evidence).","entity_name":"SLITRK6","entity_type":"gene"},{"created":"2023-05-31T17:09:00.915047+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX5 as ready","entity_name":"PAX5","entity_type":"gene"},{"created":"2023-05-31T17:09:00.907183+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax5 has been classified as Red List (Low Evidence).","entity_name":"PAX5","entity_type":"gene"},{"created":"2023-05-31T17:08:55.555029+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAX5 as Red List (low evidence)","entity_name":"PAX5","entity_type":"gene"},{"created":"2023-05-31T17:08:55.542162+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax5 has been classified as Red List (Low Evidence).","entity_name":"PAX5","entity_type":"gene"},{"created":"2023-05-31T17:08:16.747476+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: GREB1L.","entity_name":"GREB1L","entity_type":"gene"},{"created":"2023-05-31T17:07:49.085047+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPZL2 as ready","entity_name":"MPZL2","entity_type":"gene"},{"created":"2023-05-31T17:07:49.077266+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpzl2 has been classified as Red List (Low Evidence).","entity_name":"MPZL2","entity_type":"gene"},{"created":"2023-05-31T17:07:36.467124+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPZL2 as Red List (low evidence)","entity_name":"MPZL2","entity_type":"gene"},{"created":"2023-05-31T17:07:36.452237+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpzl2 has been classified as Red List (Low Evidence).","entity_name":"MPZL2","entity_type":"gene"},{"created":"2023-05-31T17:06:19.409885+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMX1A as ready","entity_name":"LMX1A","entity_type":"gene"},{"created":"2023-05-31T17:06:19.398515+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmx1a has been classified as Red List (Low Evidence).","entity_name":"LMX1A","entity_type":"gene"},{"created":"2023-05-31T17:06:14.023320+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMX1A as Red List (low evidence)","entity_name":"LMX1A","entity_type":"gene"},{"created":"2023-05-31T17:06:14.012349+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmx1a has been classified as Red List (Low Evidence).","entity_name":"LMX1A","entity_type":"gene"},{"created":"2023-05-31T17:05:43.439778+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GREB1L as ready","entity_name":"GREB1L","entity_type":"gene"},{"created":"2023-05-31T17:05:43.428732+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: greb1l has been classified as Green List (High Evidence).","entity_name":"GREB1L","entity_type":"gene"},{"created":"2023-05-31T17:05:38.134947+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2163","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GREB1L as Green List (high evidence)","entity_name":"GREB1L","entity_type":"gene"},{"created":"2023-05-31T17:05:38.127758+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: greb1l has been classified as Green List (High Evidence).","entity_name":"GREB1L","entity_type":"gene"},{"created":"2023-05-31T13:45:18.807656+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2162","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLRP3 as ready","entity_name":"NLRP3","entity_type":"gene"},{"created":"2023-05-31T13:45:18.799068+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp3 has been classified as Amber List (Moderate Evidence).","entity_name":"NLRP3","entity_type":"gene"},{"created":"2023-05-31T13:45:12.924806+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2162","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NLRP3 as Amber List (moderate evidence)","entity_name":"NLRP3","entity_type":"gene"},{"created":"2023-05-31T13:45:12.916917+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp3 has been classified as Amber List (Moderate Evidence).","entity_name":"NLRP3","entity_type":"gene"},{"created":"2023-05-31T13:45:03.727769+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2161","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: NLRP3.\nTag immunological tag was added to gene: NLRP3.","entity_name":"NLRP3","entity_type":"gene"},{"created":"2023-05-31T13:44:51.509697+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2161","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NLRP3 was added\ngene: NLRP3 was added to Baby Screen+ newborn screening. Sources: Expert Review\nMode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NLRP3 were set to 25038238\nPhenotypes for gene: NLRP3 were set to Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200\nReview for gene: NLRP3 was set to AMBER\nAdded comment: Established gene-disease associations.\r\n\r\nVariants in this gene cause a spectrum of clinical phenotypes, ranging from onset in infancy to adult-onset, with variable severity. Genotype-phenotype correlation is unclear, hence not suitable for inclusion at this time.\r\n\r\nTreatment: corticosteroids, anakinra, rilonacept and canakinumab.\r\n\r\nNon-genetic confirmatory testing: no. \nSources: Expert Review","entity_name":"NLRP3","entity_type":"gene"},{"created":"2023-05-31T11:48:20.796986+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2160","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AMT.\nTag metabolic tag was added to gene: AMT.","entity_name":"AMT","entity_type":"gene"},{"created":"2023-05-31T11:48:02.786095+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMT were set to ","entity_name":"AMT","entity_type":"gene"},{"created":"2023-05-31T11:47:44.957334+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2159","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AMT as Amber List (moderate evidence)","entity_name":"AMT","entity_type":"gene"},{"created":"2023-05-31T11:47:44.949159+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amt has been classified as Amber List (Moderate Evidence).","entity_name":"AMT","entity_type":"gene"},{"created":"2023-05-31T11:47:33.616033+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2158","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AMT: Added comment: Severe infantile forms: treatment does not currently alter outcomes.\r\n\r\nAttenuated forms can have onset in childhood, therapy with sodium benzoate and NMDA (The N-methyl-D-aspartate receptor) receptor site antagonists (dextromethorphan, ketamine) but uncertainty about effectiveness.; Changed rating: AMBER; Changed publications: 35683414","entity_name":"AMT","entity_type":"gene"},{"created":"2023-05-31T11:45:22.684226+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2158","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLDC were set to 16404748; 34513771","entity_name":"GLDC","entity_type":"gene"},{"created":"2023-05-31T11:45:08.582356+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2157","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLDC as Amber List (moderate evidence)","entity_name":"GLDC","entity_type":"gene"},{"created":"2023-05-31T11:45:08.574962+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gldc has been classified as Amber List (Moderate Evidence).","entity_name":"GLDC","entity_type":"gene"},{"created":"2023-05-31T11:44:53.482333+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2156","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening.; to: Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening.\r\n\r\nHowever, the effectiveness of treatment is not established, PMID 35683414 for a recent review.","entity_name":"GLDC","entity_type":"gene"},{"created":"2023-05-31T11:44:28.141153+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2156","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLDC: Changed rating: AMBER; Changed publications: 35683414","entity_name":"GLDC","entity_type":"gene"},{"created":"2023-05-31T11:41:01.449734+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2156","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLDC as Green List (high evidence)","entity_name":"GLDC","entity_type":"gene"},{"created":"2023-05-31T11:41:01.436319+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gldc has been classified as Green List (High Evidence).","entity_name":"GLDC","entity_type":"gene"},{"created":"2023-05-31T11:40:48.534657+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2155","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: GLDC: Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening.","entity_name":"GLDC","entity_type":"gene"},{"created":"2023-05-31T11:39:17.709724+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2155","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SAMHD1 as Amber List (moderate evidence)","entity_name":"SAMHD1","entity_type":"gene"}]}