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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=173",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=171",
"results": [
{
"created": "2025-09-09T17:19:03.334935+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TT were changed from to Mitochondrial disease (MONDO:0044970), MT-TT-related",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-09T17:18:15.686430+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TT as Amber List (moderate evidence)",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-09T17:18:15.679351+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tt has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-09T17:17:31.510078+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UPF1 as Green List (high evidence)",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2025-09-09T17:17:31.499803+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: upf1 has been classified as Green List (High Evidence).",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2025-09-09T17:17:07.554356+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UPF1: Added comment: Additional reports identified:\r\n\r\nPMID:28135719 (2017) reported four unrelated patients with de novo heterozygous missense variants in UPF1 gene from the Deciphering Developmental Disorders Study cohort, for which no detailed phenotypic information was available in the publication. Three patients were reported with global developmental delay (mild in one) and the fourth patient was reported with neurodevelopmental delay as one of the presenting phenotypes in the Decipher database (https://www.deciphergenomics.org/gene/UPF1/patient-overlap/snvs)\r\n\r\nPMID:28539120 (2017) reported a patient with significant intellectual disability (ID) and gross motor delay and with a heterozygous likely pathogenic variant in UPF1 gene (c.1576_1577delinsAA/ p.Ala526Asn). However, this patient also harboured a heterozygous likely pathogenic variant in SQSTM1 gene. As reviewed below by Ivone Leong, the authors suggested that it is plausible that the haploinsufficiency of SQSTM1 may have caused neurofunctional defects, which the haploinsufficiency of UPF1 may have exacerbated.\r\n\r\nPMID:39571789 (2024) reported two unrelated paediatric patients with intellectual disabilities, frontal bossing, hypertelorism, high frontal hairline, and thin upper lip. They both had language and motor delays and were identified with de novo heterozygous variants in UPF1 gene (c.949_951del/ p.Asp317del & c.1984G>A/ p.Asp662Asn). The p.Asp662Asn variant has also been previously reported in a patient from PMID:28135719.\r\n\r\nPMID:39993774 (2025) reported a 17‐year‐old male patient with moderate intellectual disability, atypical autism, ADHD, and aggressivity. He was identified with a de novo missense variant in UPF1 gene - c.1576G>A/ p.Ala526Thr.; Changed rating: GREEN; Changed publications: 33057194, 28135719, 28539120, 39571789, 39993774; Changed phenotypes: neurodevelopmental disorder, MONDO:0700092, UPF1-related",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2025-09-09T17:14:40.781255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UPF1 were changed from Developmental disorders to neurodevelopmental disorder, MONDO:0700092, UPF1-related",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2025-09-09T17:14:19.301557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UPF1 were set to 33057194",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2025-09-09T17:13:50.603335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UPF1 as Green List (high evidence)",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2025-09-09T17:13:50.596263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: upf1 has been classified as Green List (High Evidence).",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2025-09-09T05:12:19.306313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3028",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: UPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 28539120, 39571789, 39993774; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2025-09-09T00:42:58.780418+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Judit Garcia",
"item_type": "entity",
"text": "edited their review of gene: GAMT: Changed publications: PMID: 36856349, PMID: 28055022, PMID: 28055022, https://doi.org/10.1016/j.ymgme.2024.108362.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2025-09-09T00:41:13.896366+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Judit Garcia",
"item_type": "entity",
"text": "edited their review of gene: GAMT: Changed publications: PMID: 36856349, PMID: 28055022, PMID: 28055022",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2025-09-09T00:40:09.880168+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Judit Garcia",
"item_type": "entity",
"text": "changed review comment from: Broad review of CCDS biology/phenotypes including GAMT. Mulik et al., Children (Basel), 2023.\r\n\r\nThe condition is treatable when identified early (creatine supplementation, dietary management). Treatment: Oral creatine monohydrate to replenish cerebral creatine plus arginine restriction and L-ornithine supplementation to reduce GAA; best outcomes with early initiation. https://www.ncbi.nlm.nih.gov/books/NBK3794/?utm_source=chatgpt.com; Stockler-Ipsiroglu et al., Mol Genet Metab, 2014.\r\n\r\nThere is good evidence of GREEN in other panel of gens: Mendeliome, Genetic Epilepsy, Intellectual Disability, Dystonia – complex, Reproductive Carrier Screening, Metabolic Disorders, Newborn screening panels, etc.\r\n\r\nOnly in RED in Cerebral Palsy, Fetal anomalies.\r\n\r\nEvidence sources: Expert Review Green, NHS GMS, Victorian Clinical Genetics Services, Australian Genomics Health Alliance Epilepsy Flagship.\r\n\r\nThere is a biochemical test to confirm patogenicity of variants detected. Pathogenic variants: Increased Guanidinoacetic acid (GAA) in urine, plasma and dired blood spot; brain MRS with reduced creatine.\r\n\r\nThere is a definitive gene–disease validity (ClinGen); use CCDS VCEP ACMG/AMP specifications for variant classification in clinical reporting.; to: Broad review of CCDS biology/phenotypes including GAMT. Mulik et al., Children (Basel), 2023.\r\n\r\nThe condition is treatable when identified early (creatine supplementation, dietary management). Treatment: Oral creatine monohydrate to replenish cerebral creatine plus arginine restriction and L-ornithine supplementation to reduce GAA; best outcomes with early initiation. https://www.ncbi.nlm.nih.gov/books/NBK3794/?utm_source=chatgpt.com; Stockler-Ipsiroglu et al., Mol Genet Metab, 2014.\r\n\r\nThere is good evidence of GREEN in other panel of gens: Mendeliome, Genetic Epilepsy, Intellectual Disability, Dystonia – complex, Reproductive Carrier Screening, Metabolic Disorders, Newborn screening panels, etc.\r\n\r\nOnly in RED in Cerebral Palsy, Fetal anomalies.\r\n\r\nEvidence sources: Expert Review Green, NHS GMS, Victorian Clinical Genetics Services, Australian Genomics Health Alliance Epilepsy Flagship.\r\n\r\nThere is a biochemical test to confirm pathogenicity of variants detected. Pathogenic variants: Increased Guanidinoacetic acid (GAA) in urine, plasma and dired blood spot; brain MRS with reduced creatine.\r\n\r\nThere is a definitive gene–disease validity (ClinGen); use CCDS VCEP ACMG/AMP specifications for variant classification in clinical reporting.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2025-09-09T00:39:41.228589+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Judit Garcia",
"item_type": "entity",
"text": "edited their review of gene: GAMT: Added comment: Broad review of CCDS biology/phenotypes including GAMT. Mulik et al., Children (Basel), 2023.\r\n\r\nThe condition is treatable when identified early (creatine supplementation, dietary management). Treatment: Oral creatine monohydrate to replenish cerebral creatine plus arginine restriction and L-ornithine supplementation to reduce GAA; best outcomes with early initiation. https://www.ncbi.nlm.nih.gov/books/NBK3794/?utm_source=chatgpt.com; Stockler-Ipsiroglu et al., Mol Genet Metab, 2014.\r\n\r\nThere is good evidence of GREEN in other panel of gens: Mendeliome, Genetic Epilepsy, Intellectual Disability, Dystonia – complex, Reproductive Carrier Screening, Metabolic Disorders, Newborn screening panels, etc.\r\n\r\nOnly in RED in Cerebral Palsy, Fetal anomalies.\r\n\r\nEvidence sources: Expert Review Green, NHS GMS, Victorian Clinical Genetics Services, Australian Genomics Health Alliance Epilepsy Flagship.\r\n\r\nThere is a biochemical test to confirm patogenicity of variants detected. Pathogenic variants: Increased Guanidinoacetic acid (GAA) in urine, plasma and dired blood spot; brain MRS with reduced creatine.\r\n\r\nThere is a definitive gene–disease validity (ClinGen); use CCDS VCEP ACMG/AMP specifications for variant classification in clinical reporting.; Changed publications: PMID: 36856349, PMID: 28055022; Changed phenotypes: Creberal creatine deficiency syndrome 2 (MIM 612736), global developmental delay, intellectual disability, epilepsy, behavioral disturbance, movement disorder, markedly low brain creatine and elevated guanidinoacetate.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2025-09-09T00:18:32.667400+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.7",
"user_name": "Judit Garcia",
"item_type": "entity",
"text": "gene: GAMT was added\ngene: GAMT was added to Genomic newborn screening: ICoNS. Sources: Expert Review\nMode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAMT were set to Creberal creatine deficiency syndrome 2 (MIM 612736)\nPenetrance for gene: GAMT were set to Complete\nReview for gene: GAMT was set to GREEN\ngene: GAMT was marked as current diagnostic\nAdded comment: Sources: Expert Review",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2025-09-08T12:27:44.913001+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.996",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: MT-TT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:58:42.882896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3028",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: COMMD9 as ready",
"entity_name": "COMMD9",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:58:42.873907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3028",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: commd9 has been classified as Red List (Low Evidence).",
"entity_name": "COMMD9",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:58:36.369407+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.285",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: COMMD9 as ready",
"entity_name": "COMMD9",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:58:36.359029+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.285",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: commd9 has been classified as Red List (Low Evidence).",
"entity_name": "COMMD9",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:58:30.140433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3028",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: COMMD9 was added\ngene: COMMD9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: COMMD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COMMD9 were set to PMID: 40601774\nPhenotypes for gene: COMMD9 were set to Neurodevelopmental disorder, MONDO:0700092, COMMD9-related\nReview for gene: COMMD9 was set to RED\nAdded comment: PMID: 40601774 report a cohort ascertained through GeneMatcher with phenotypic features overlapping with Ritscher-Schinzel syndrome.\r\n\r\nHomozygous fs variant in COMMD9 [NM_014186.3:c.208_209del, p.Leu70Glyfs*5] identified in a 4 yo M with dev delay, dysmorphism, skeletal changes including brachydactyly and radioulnar dysostosis, hypotonia, MRI-B anomalies - dysgyria, dilated\r\nlateral ventricles, deep white matter periventricular demyelination, thin corpus callosum, cerebellar vermis hypoplasia and malrotation.\r\n\r\nConsanguineous parents confirmed to be heterozygous carriers. No information provided regarding segregation of these variants in unaffected siblings. \nSources: Literature",
"entity_name": "COMMD9",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:58:29.257368+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.285",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: COMMD9 was added\ngene: COMMD9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: COMMD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COMMD9 were set to PMID: 40601774\nPhenotypes for gene: COMMD9 were set to Neurodevelopmental disorder, MONDO:0700092, COMMD9-related\nReview for gene: COMMD9 was set to RED\nAdded comment: PMID: 40601774 report a cohort ascertained through GeneMatcher with phenotypic features overlapping with Ritscher-Schinzel syndrome.\r\n\r\nHomozygous fs variant in COMMD9 [NM_014186.3:c.208_209del, p.Leu70Glyfs*5] identified in a 4 yo M with dev delay, dysmorphism, skeletal changes including brachydactyly and radioulnar dysostosis, hypotonia, MRI-B anomalies - dysgyria, dilated\r\nlateral ventricles, deep white matter periventricular demyelination, thin corpus callosum, cerebellar vermis hypoplasia and malrotation.\r\n\r\nConsanguineous parents confirmed to be heterozygous carriers. No information provided regarding segregation of these variants in unaffected siblings. \nSources: Literature",
"entity_name": "COMMD9",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:40:28.806822+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.215",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TBCB as Amber List (moderate evidence)",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:40:28.794872+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.215",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:40:21.138116+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.214",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TBCB as ready",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:40:21.116589+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.214",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Red List (Low Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:40:08.094777+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.214",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBCB was added\ngene: TBCB was added to Autism. Sources: Literature\nMode of inheritance for gene: TBCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCB were set to PMID: 40856104\nPhenotypes for gene: TBCB were set to Neurodevelopmental disorder, MONDO:0700092, TBCB-related\nReview for gene: TBCB was set to AMBER\nAdded comment: PMID: 40856104 Bratman, S. et al 2025 (Genetics in Medicine) report 10 individuals from 8 unrelated families of Ashkenazi Jewish descent with a homozygous missense founder variant in TBCB (c.589T>A, p.Tyr197Asn) identified through exome sequencing. This variant is present at 1.3% carrier frequency in the AJ population in gnomAD v4 with 0 homozygotes. Variant is reasonably well-conserved, REVEL 0.9 and in the Cap-Gly domain. No other homozygous missense variants in this region in gnomAD v4 and homozygous variants rare, overall.\r\n\r\nPhenotypic features included:\r\n- Motor/speech delays in infancy (almost all)\r\n- ASD (8/10)\r\n- ADHD (5/10)\r\n- Mild ID - formal cognitive evaluation (5/8).\r\n- Spastic paraparesis in late childhood (9-12y) with slowly progressive gait difficulties and lower limb spasticity. Urinary abnormalities were not reported.\r\n- Brain MRI was performed on five individuals - three displayed a thin corpus callosum,\r\nand two had decreased white matter.\r\n\r\nNo prenatal features reported.\r\n\r\nSupportive Drosophilia models. \nSources: Literature",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:38:38.753557+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.558",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TBCB as Amber List (moderate evidence)",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:38:38.744587+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.558",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:38:36.670314+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.557",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TBCB as ready",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:38:36.661608+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.557",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Red List (Low Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:38:14.748483+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.327",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TBCB as ready",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:38:14.739708+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.327",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:38:01.712158+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.284",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TBCB as ready",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:38:01.704160+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.284",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:50.640616+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.95",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TBCB as ready",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:50.620070+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.95",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:45.586776+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.327",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TBCB as Amber List (moderate evidence)",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:45.580018+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.327",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:39.251366+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.95",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TBCB as Amber List (moderate evidence)",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:39.244366+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.95",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:35.687029+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.284",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TBCB as Amber List (moderate evidence)",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:35.675485+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.284",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:17.144487+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.557",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBCB was added\ngene: TBCB was added to Callosome. Sources: Literature\nMode of inheritance for gene: TBCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCB were set to PMID: 40856104\nPhenotypes for gene: TBCB were set to Neurodevelopmental disorder, MONDO:0700092, TBCB-related\nReview for gene: TBCB was set to AMBER\nAdded comment: PMID: 40856104 Bratman, S. et al 2025 (Genetics in Medicine) report 10 individuals from 8 unrelated families of Ashkenazi Jewish descent with a homozygous missense founder variant in TBCB (c.589T>A, p.Tyr197Asn) identified through exome sequencing. This variant is present at 1.3% carrier frequency in the AJ population in gnomAD v4 with 0 homozygotes. Variant is reasonably well-conserved, REVEL 0.9 and in the Cap-Gly domain. No other homozygous missense variants in this region in gnomAD v4 and homozygous variants rare, overall.\r\n\r\nPhenotypic features included:\r\n- Motor/speech delays in infancy (almost all)\r\n- ASD (8/10) \r\n- ADHD (5/10)\r\n- Mild ID - formal cognitive evaluation (5/8). \r\n- Spastic paraparesis in late childhood (9-12y) with slowly progressive gait difficulties and lower limb spasticity. Urinary abnormalities were not reported. \r\n- Brain MRI was performed on five individuals - three displayed a thin corpus callosum,\r\nand two had decreased white matter.\r\n\r\nNo prenatal features reported.\r\n\r\nSupportive Drosophilia models. \nSources: Literature",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:37:04.979439+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.326",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBCB was added\ngene: TBCB was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: TBCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCB were set to PMID: 40856104\nPhenotypes for gene: TBCB were set to Neurodevelopmental disorder, MONDO:0700092, TBCB-related\nReview for gene: TBCB was set to AMBER\nAdded comment: PMID: 40856104 Bratman, S. et al 2025 (Genetics in Medicine) report 10 individuals from 8 unrelated families of Ashkenazi Jewish descent with a homozygous missense founder variant in TBCB (c.589T>A, p.Tyr197Asn) identified through exome sequencing. This variant is present at 1.3% carrier frequency in the AJ population in gnomAD v4 with 0 homozygotes. Variant is reasonably well-conserved, REVEL 0.9 and in the Cap-Gly domain. No other homozygous missense variants in this region in gnomAD v4 and homozygous variants rare, overall.\r\n\r\nPhenotypic features included:\r\n- Motor/speech delays in infancy (almost all)\r\n- ASD (8/10) \r\n- ADHD (5/10)\r\n- Mild ID - formal cognitive evaluation (5/8). \r\n- Spastic paraparesis in late childhood (9-12y) with slowly progressive gait difficulties and lower limb spasticity. Urinary abnormalities were not reported. \r\n- Brain MRI was performed on five individuals - three displayed a thin corpus callosum,\r\nand two had decreased white matter.\r\n\r\nNo prenatal features reported.\r\n\r\nSupportive Drosophilia models. \nSources: Literature",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:36:57.796779+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.94",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBCB was added\ngene: TBCB was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: TBCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCB were set to PMID: 40856104\nPhenotypes for gene: TBCB were set to Neurodevelopmental disorder, MONDO:0700092, TBCB-related\nReview for gene: TBCB was set to AMBER\nAdded comment: PMID: 40856104 Bratman, S. et al 2025 (Genetics in Medicine) report 10 individuals from 8 unrelated families of Ashkenazi Jewish descent with a homozygous missense founder variant in TBCB (c.589T>A, p.Tyr197Asn) identified through exome sequencing. This variant is present at 1.3% carrier frequency in the AJ population in gnomAD v4 with 0 homozygotes. Variant is reasonably well-conserved, REVEL 0.9 and in the Cap-Gly domain. No other homozygous missense variants in this region in gnomAD v4 and homozygous variants rare, overall.\r\n\r\nPhenotypic features included:\r\n- Motor/speech delays in infancy (almost all)\r\n- ASD (8/10) \r\n- ADHD (5/10)\r\n- Mild ID - formal cognitive evaluation (5/8). \r\n- Spastic paraparesis in late childhood (9-12y) with slowly progressive gait difficulties and lower limb spasticity. Urinary abnormalities were not reported. \r\n- Brain MRI was performed on five individuals - three displayed a thin corpus callosum,\r\nand two had decreased white matter.\r\n\r\nNo prenatal features reported.\r\n\r\nSupportive Drosophilia models. \nSources: Literature",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:36:43.820018+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.283",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBCB was added\ngene: TBCB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TBCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCB were set to PMID: 40856104\nPhenotypes for gene: TBCB were set to Neurodevelopmental disorder, MONDO:0700092, TBCB-related\nReview for gene: TBCB was set to AMBER\nAdded comment: PMID: 40856104 Bratman, S. et al 2025 (Genetics in Medicine) report 10 individuals from 8 unrelated families of Ashkenazi Jewish descent with a homozygous missense founder variant in TBCB (c.589T>A, p.Tyr197Asn) identified through exome sequencing. This variant is present at 1.3% carrier frequency in the AJ population in gnomAD v4 with 0 homozygotes. Variant is reasonably well-conserved, REVEL 0.9 and in the Cap-Gly domain. No other homozygous missense variants in this region in gnomAD v4 and homozygous variants rare, overall.\r\n\r\nPhenotypic features included:\r\n- Motor/speech delays in infancy (almost all)\r\n- ASD (8/10) \r\n- ADHD (5/10)\r\n- Mild ID - formal cognitive evaluation (5/8). \r\n- Spastic paraparesis in late childhood (9-12y) with slowly progressive gait difficulties and lower limb spasticity. Urinary abnormalities were not reported. \r\n- Brain MRI was performed on five individuals - three displayed a thin corpus callosum,\r\nand two had decreased white matter.\r\n\r\nNo prenatal features reported.\r\n\r\nSupportive Drosophilia models. \nSources: Literature",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:21:50.777028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3027",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TBCB as ready",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:21:50.770026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3027",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:21:46.553521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3027",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TBCB as Amber List (moderate evidence)",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:21:46.546615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3027",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbcb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T11:21:30.928967+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3026",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBCB was added\ngene: TBCB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TBCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCB were set to PMID: 40856104\nPhenotypes for gene: TBCB were set to Neurodevelopmental disorder, MONDO:0700092, TBCB-related\nReview for gene: TBCB was set to AMBER\nAdded comment: PMID: 40856104 Bratman, S. et al 2025 (Genetics in Medicine) report 10 individuals from 8 unrelated families of Ashkenazi Jewish descent with a homozygous missense founder variant in TBCB (c.589T>A, p.Tyr197Asn) identified through exome sequencing. This variant is present at 1.3% carrier frequency in the AJ population in gnomAD v4 with 0 homozygotes. Variant is reasonably well-conserved, REVEL 0.9 and in the Cap-Gly domain. No other homozygous missense variants in this region in gnomAD v4 and homozygous variants rare, overall.\r\n\r\nPhenotypic features included:\r\n- Motor/speech delays in infancy (almost all)\r\n- ASD (8/10) \r\n- ADHD (5/10)\r\n- Mild ID - formal cognitive evaluation (5/8). \r\n- Spastic paraparesis in late childhood (9-12y) with slowly progressive gait difficulties and lower limb spasticity. Urinary abnormalities were not reported. \r\n- Brain MRI was performed on five individuals - three displayed a thin corpus callosum,\r\nand two had decreased white matter.\r\n\r\nNo prenatal features reported.\r\n\r\nSupportive Drosophilia models. \nSources: Literature",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-09-08T10:34:47.178900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPSR1 were changed from {Asthma, susceptibility to, 2}\t608584 to Short sleep, familial natural, 3, MIM# 621336; {Asthma, susceptibility to, 2}\t608584",
"entity_name": "NPSR1",
"entity_type": "gene"
},
{
"created": "2025-09-08T10:34:30.038099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPSR1 were set to ",
"entity_name": "NPSR1",
"entity_type": "gene"
},
{
"created": "2025-09-08T10:34:13.237828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPSR1: Rating: RED; Mode of pathogenicity: None; Publications: 31619542; Phenotypes: Short sleep, familial natural, 3, MIM# 621336; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPSR1",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:16:53.195580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3023",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT32 as ready",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:16:53.184332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3023",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt32 has been classified as Green List (High Evidence).",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:16:45.490161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3023",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT32 as Green List (high evidence)",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:16:45.483525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3023",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt32 has been classified as Green List (High Evidence).",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:16:24.485679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3022",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT32 was added\ngene: KRT32 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KRT32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT32 were set to 40814173; 39048559\nPhenotypes for gene: KRT32 were set to loose anagen syndrome MONDO:0010908; Pityriasis rubra pilaris MONDO:0100017\nReview for gene: KRT32 was set to GREEN\nAdded comment: Sufficient evidence for Pityriasis rubra pilaris association, but limited for association with loose anagen syndrome.\r\nPMID: 39048559 - Significant enrichment of KRT32 variants (p=3.06e-4) in 58 PRP cases vs 364 healthy controls (4 variants - individual 1: c.344G>A (p.Arg115Gln - 10 hets gnomAD v4.1), individual 2: c.477_478del (p.Thr160fs), individual 3: c.607C>T (p.Arg203Cys - 71 hets gnomAD v4.1), and individual 4: c.685T>C (p.Cys229Arg - 18 hets gnomAD v4.1). Validation cohort of 44 PRP cases vs 436 healthy controls identified an additional 2 variants (individual 5: c.907G>A (p.Glu303Lys - 3 hets gnomAD v4.1), individual 6: c.937A>G (p.Ile313Val - 30 hets gnomAD v4.1). A combined analysis of the KRT32 gene in both the discovery and validation cohorts revealed a significant p value of 1.73 e-6. The KRT32 expression patterns (location of protein expression) were altered in PRP cases with the KRT32 variants. In vitro analysis demonstrated that the 6 variants (all located in the IF rod domain) exhibited varying degrees of attenuation in inhibiting the NF-κB signaling pathway. A Krt32 knockout mouse model recapitulates the human PRP-like phenotype.\r\nPMID: 40814173 - a single family with loose anagen hair syndrome co-segregating (c.296C>T; p.Thr99Ile) in a large family; however, the AF in the European population is 0.3% in gnomAD v4.1 (6 homozygotes), which is higher than expected for a dominant condition. In vitro functional assay showing the variant alters interaction with KRT82, however, only WT & the variant were assessed (no positive control). \nSources: Literature",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:14:56.261833+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT32 as ready",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:14:56.251095+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt32 has been classified as Green List (High Evidence).",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:14:48.834018+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT32 as Green List (high evidence)",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:14:48.823673+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt32 has been classified as Green List (High Evidence).",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T09:14:26.574329+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT32 was added\ngene: KRT32 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: KRT32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT32 were set to 39048559\nPhenotypes for gene: KRT32 were set to Pityriasis rubra pilaris MONDO:0100017\nReview for gene: KRT32 was set to GREEN\nAdded comment: Significant enrichment of KRT32 variants (p=3.06e-4) in 58 PRP cases vs 364 healthy controls (4 variants - individual 1: c.344G>A (p.Arg115Gln - 10 hets gnomAD v4.1), individual 2: c.477_478del (p.Thr160fs), individual 3: c.607C>T (p.Arg203Cys - 71 hets gnomAD v4.1), and individual 4: c.685T>C (p.Cys229Arg - 18 hets gnomAD v4.1). Validation cohort of 44 PRP cases vs 436 healthy controls identified an additional 2 variants (individual 5: c.907G>A (p.Glu303Lys - 3 hets gnomAD v4.1), individual 6: c.937A>G (p.Ile313Val - 30 hets gnomAD v4.1). A combined analysis of the KRT32 gene in both the discovery and validation cohorts revealed a significant p value of 1.73 e-6. The KRT32 expression patterns (location of protein expression) were altered in PRP cases with the KRT32 variants. In vitro analysis demonstrated that the 6 variants (all located in the IF rod domain) exhibited varying degrees of attenuation in inhibiting the NF-κB signaling pathway. A Krt32 knockout mouse model recapitulates the human PRP-like phenotype. \nSources: Literature",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T08:20:06.006864+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT32 as ready",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T08:20:05.995236+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt32 has been classified as Red List (Low Evidence).",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-08T08:20:00.805290+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT32 was added\ngene: KRT32 was added to Hair disorders. Sources: Literature\nMode of inheritance for gene: KRT32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT32 were set to 40814173\nPhenotypes for gene: KRT32 were set to loose anagen syndrome MONDO:0010908\nReview for gene: KRT32 was set to RED\nAdded comment: A single family with loose anagen hair syndrome co-segregating (c.296C>T; p.Thr99Ile) in a large family; however, the AF in the European population is 0.3% in gnomAD v4.1 (6 homozygotes), which is higher than expected for a dominant condition and it would be expected that this phenotype has been reported in association with the variant/gene previously. In vitro functional assay showing the variant alters interaction with KRT82; however, only WT & the variant were assessed (no positive control). \nSources: Literature",
"entity_name": "KRT32",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:33:15.987146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3021",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CCDC89 as ready",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:33:15.979853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3021",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccdc89 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:33:09.108418+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CCDC89 as ready",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:33:09.101389+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccdc89 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:33:04.680508+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCDC89 as Amber List (moderate evidence)",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:33:04.673318+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccdc89 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:32:57.228758+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCDC89 was added\ngene: CCDC89 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CCDC89 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC89 were set to 40591933\nPhenotypes for gene: CCDC89 were set to spermatogenic failure MONDO:0004983\nReview for gene: CCDC89 was set to AMBER\nAdded comment: 2 missense identified in 3 males with non-obstructive azoospermia (2 homozygous for c.903G>T p.E301D, NFE AF 0.7% in gnomAD v4.1 & 1 chet for c.903G>T & c.1024G>A p.D342N - NFE AF 0.0086%). A homozygous knock-in mouse model for p.E301D (Ccdc89E297D/E297D) was fertile, their testis weights and germ cell content were reduced, and male knockouts (Ccdc89−/−) were sub-fertile. \nSources: Literature",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:32:13.246979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3021",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCDC89 as Amber List (moderate evidence)",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:32:13.238931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3021",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccdc89 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T19:31:43.286460+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3020",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCDC89 was added\ngene: CCDC89 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC89 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC89 were set to 40591933\nPhenotypes for gene: CCDC89 were set to spermatogenic failure MONDO:0004983\nReview for gene: CCDC89 was set to AMBER\nAdded comment: 2 missense identified in 3 males with non-obstructive azoospermia (2 homozygous for c.903G>T p.E301D, NFE AF 0.7% in gnomAD v4.1 & 1 chet for c.903G>T & c.1024G>A p.D342N - NFE AF 0.0086%). A homozygous knock-in mouse model for p.E301D (Ccdc89E297D/E297D) was fertile, their testis weights and germ cell content were reduced, and male knockouts (Ccdc89−/−) were sub-fertile. \nSources: Literature",
"entity_name": "CCDC89",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:50:59.094490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3019",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TULP2 as ready",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:50:59.087099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3019",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tulp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:50:52.602948+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TULP2 as ready",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:50:52.591337+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tulp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:50:26.157402+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TULP2 as Amber List (moderate evidence)",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:50:26.150785+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tulp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:50:16.245843+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TULP2 was added\ngene: TULP2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TULP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TULP2 were set to 35619658: 33763418; 40613306\nPhenotypes for gene: TULP2 were set to male infertility MONDO:0005372\nReview for gene: TULP2 was set to AMBER\nAdded comment: Tulp2 -/- mouse model is sterile. Only one individual with asthenoteratozoospermia reported with a homozygous missense variant (c.832C>T p.R278W) that present in at AF of ~1% in the East Asian population in gnomAD v4.1 (455/44,880 alleles, 4 homozygotes). This AF doesn’t rule it out as a possible cause of male sterility. \nSources: Literature",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:49:47.522411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3019",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TULP2 as Amber List (moderate evidence)",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:49:47.497900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3019",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tulp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:49:02.332265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3018",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TULP2 was added\ngene: TULP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TULP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TULP2 were set to 35619658: 33763418; 40613306\nPhenotypes for gene: TULP2 were set to male infertility MONDO:0005372\nReview for gene: TULP2 was set to AMBER\nAdded comment: Tulp2 -/- mouse model is sterile. Only one individual with asthenoteratozoospermia reported with a homozygous missense variant (c.832C>T p.R278W) that present in at AF of ~1% in the East Asian population in gnomAD v4.1 (455/44,880 alleles, 4 homozygotes). This AF doesn’t rule it out as a possible cause of male sterility. \nSources: Literature",
"entity_name": "TULP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:34:51.164816+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#\t607694 to POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:34:35.279363+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR3A: Changed phenotypes: POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:34:21.005496+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#\t607694; Striatal abnormalities; Dystonia to POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:34:06.898682+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR3A: Changed phenotypes: POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:33:37.086136+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 to POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:33:13.923116+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR3A: Changed phenotypes: POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:32:45.613905+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM#607694 to POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:32:21.582906+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: POLR3A-related disorder MONDO:0700276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:32:05.014937+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; POLR3A Leukoencephalopathy; Parkinsonism; Ocular and dental abnormality; Hypogonadism to POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:31:28.158500+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR3A: Changed phenotypes: POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:31:05.629136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection; POLR3A-related spastic ataxia to POLR3A-related disorder MONDO:0700276; Susceptibility to severe VZV infection; POLR3A-related spastic ataxia",
"entity_name": "POLR3A",
"entity_type": "gene"
}
]
}