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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=178",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=176",
"results": [
{
"created": "2025-09-03T08:58:05.955965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc93 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC93",
"entity_type": "gene"
},
{
"created": "2025-09-03T08:57:10.804203+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX18 as ready",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-03T08:57:10.793856+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Green List (High Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-03T08:57:06.874326+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX18 as Green List (high evidence)",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-03T08:57:06.862858+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Green List (High Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-03T08:56:55.136001+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX18 was added\ngene: COX18 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX18 were set to 37468577; 40830826\nPhenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related\nReview for gene: COX18 was set to GREEN\nAdded comment: PMID 40830826: Two sibs presenting with early onset progressive axonal sensory-motor peripheral neuropathy Family 1 (consanguineous) - two sibs affected with axonal CMT and homozygous c.435-6A>G - NFE AF - 0.001531% Family 2 - 4 sibs affected with axonal CMT and homozygous Leu72Arg - MID PopMax AF - 0.07120% Family 3 - two sibs with axonal CMT and compound het variants confirmed in trans - Ala110Pro; Arg297Pro Functional assay on c.435-6A>G showed stable but defective COX18 isoform - impairs CIV assembly and activity resulting in the reduction of mitochondrial membrane potential.\r\n\r\nNote earlier case report with multi-system mitochondrial disease, hence placing in this panel. \nSources: Literature",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-03T08:54:54.037208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX18 were set to PMID:37468577",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-03T08:54:13.121586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX18 as Green List (high evidence)",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-03T08:54:13.110241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Green List (High Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-03T08:53:42.932985+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX18 were set to PMID:37468577",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-02T21:56:31.850650+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.21",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SPNS1 was added\ngene: SPNS1 was added to Lysosomal Storage Disorder. Sources: Literature\nMode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPNS1 were set to 40608416\nPhenotypes for gene: SPNS1 were set to Lysosomal disorder, SPNS1-related, MONDO:0002561\nReview for gene: SPNS1 was set to AMBER\nAdded comment: Patient 1 and 2 - Proband and younger brother prolonged, transient neonatal unconjugated hyperbilirubinemia followed by persistently elevated transaminases, serum creatine kinase and myoglobin levels since 6 months and 12 months of age\r\nCompound het - Ser416Cys; Ile50Alafs*48 confirmed in trans - both absent from gnomAD v4.1\r\n\r\nPatient 3 - 8M from consanguineous parents with elevated transaminase and failure to thrive at 2.5years. Liver transaminase, serum creatinine kinase were elevated. Diagnosed with DD and presented with neonatal cardiac abnormalities\r\nHomozygous variant - Thr287Met - NFE PopMax AF 0.0008474%\r\n\r\nSupportive functional assay conducted on patient fibroblasts showed accumulated lysophospholipids including lysoplasmalogens and cholesterol in lysosomes with reduced cellular plasmalogens. \nSources: Literature",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-02T21:55:51.264011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2964",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Proband and younger brother prolonged, transient neonatal unconjugated hyperbilirubinemia followed by persistently elevated transaminases, serum creatine kinase and myoglobin levels since 6 months and 12 months of age\r\nCompound het - Ser416Cys; Ile50Alafs*48 confirmed in trans - both absent from gnomAD v4.1\r\n\r\nPatient 3 - 8M from consanguineous parents with elevated transaminase and failure to thrive at 2.5years. Liver transaminase, serum creatinine kinase were elevated. Diagnosed with DD and presented with neonatal cardiac abnormalities \r\nHomozygous variant - Thr287Met - NFE PopMax AF 0.0008474%\r\n\r\nSupportive functional assay conducted on patient fibroblasts showed accumulated lysophospholipids including lysoplasmalogens and cholesterol in lysosomes with reduced cellular plasmalogens. \nSources: Literature; to: Patient 1 and 2 - Proband and younger brother prolonged, transient neonatal unconjugated hyperbilirubinemia followed by persistently elevated transaminases, serum creatine kinase and myoglobin levels since 6 months and 12 months of age\r\nCompound het - Ser416Cys; Ile50Alafs*48 confirmed in trans - both absent from gnomAD v4.1\r\n\r\nPatient 3 - 8M from consanguineous parents with elevated transaminase and failure to thrive at 2.5years. Liver transaminase, serum creatinine kinase were elevated. Diagnosed with DD and presented with neonatal cardiac abnormalities \r\nHomozygous variant - Thr287Met - NFE PopMax AF 0.0008474%\r\n\r\nSupportive functional assay conducted on patient fibroblasts showed accumulated lysophospholipids including lysoplasmalogens and cholesterol in lysosomes with reduced cellular plasmalogens. \r\nSources: Literature",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-02T21:54:25.005874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2964",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SPNS1 was added\ngene: SPNS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPNS1 were set to 40608416\nPhenotypes for gene: SPNS1 were set to Lysosomal disorder, SPNS1-related, MONDO:0002561\nReview for gene: SPNS1 was set to AMBER\nAdded comment: Proband and younger brother prolonged, transient neonatal unconjugated hyperbilirubinemia followed by persistently elevated transaminases, serum creatine kinase and myoglobin levels since 6 months and 12 months of age\r\nCompound het - Ser416Cys; Ile50Alafs*48 confirmed in trans - both absent from gnomAD v4.1\r\n\r\nPatient 3 - 8M from consanguineous parents with elevated transaminase and failure to thrive at 2.5years. Liver transaminase, serum creatinine kinase were elevated. Diagnosed with DD and presented with neonatal cardiac abnormalities \r\nHomozygous variant - Thr287Met - NFE PopMax AF 0.0008474%\r\n\r\nSupportive functional assay conducted on patient fibroblasts showed accumulated lysophospholipids including lysoplasmalogens and cholesterol in lysosomes with reduced cellular plasmalogens. \nSources: Literature",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:50:55.584795+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.267",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: WDR18 as ready",
"entity_name": "WDR18",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:50:55.574518+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.267",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: wdr18 has been classified as Red List (Low Evidence).",
"entity_name": "WDR18",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:50:47.037228+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.267",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: WDR18 was added\ngene: WDR18 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WDR18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR18 were set to PMID: 40677927\nPhenotypes for gene: WDR18 were set to Cornelia de Lange syndrome - MONDO:0016033\nReview for gene: WDR18 was set to RED\nAdded comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing.\r\n\r\nIn addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals:\r\n\r\n- ARID3A (missense variant, REVEL 0.72)\r\n- PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS)\r\n- MCM7 (LoF variant, gene linked with cohesin complex)\r\n- MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60)\r\n- WDR18 (missense variant, weak in silico, REVEL 0.268) \nSources: Literature",
"entity_name": "WDR18",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:48:14.026093+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.266",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MIS18BP1 as ready",
"entity_name": "MIS18BP1",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:48:14.014149+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.266",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mis18bp1 has been classified as Red List (Low Evidence).",
"entity_name": "MIS18BP1",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:48:00.525674+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.266",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MIS18BP1 was added\ngene: MIS18BP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MIS18BP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIS18BP1 were set to PMID: 40677927\nPhenotypes for gene: MIS18BP1 were set to Cornelia de Lange syndrome (MONDO:0016033)\nReview for gene: MIS18BP1 was set to RED\nAdded comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing.\r\n\r\nIn addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals:\r\n\r\n- ARID3A (missense variant, REVEL 0.72)\r\n- PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS)\r\n- MCM7 (LoF variant, gene linked with cohesin complex)\r\n- MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60)\r\n- WDR18 (missense variant, weak in silico, REVEL 0.268) \nSources: Literature",
"entity_name": "MIS18BP1",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:45:06.913476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2964",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MIS18BP1 as ready",
"entity_name": "MIS18BP1",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:45:06.902337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2964",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mis18bp1 has been classified as Red List (Low Evidence).",
"entity_name": "MIS18BP1",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:44:48.714747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2964",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: WDR18 as ready",
"entity_name": "WDR18",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:44:48.703265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2964",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: wdr18 has been classified as Red List (Low Evidence).",
"entity_name": "WDR18",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:42:06.901660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2964",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: WDR18 was added\ngene: WDR18 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WDR18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR18 were set to PMID: 40677927\nPhenotypes for gene: WDR18 were set to Cornelia de Lange syndrome (MONDO:0016033)\nReview for gene: WDR18 was set to RED\nAdded comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing.\r\n\r\nIn addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals:\r\n\r\n- ARID3A (missense variant, REVEL 0.72)\r\n- PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS)\r\n- MCM7 (LoF variant, gene linked with cohesin complex)\r\n- MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60)\r\n- WDR18 (missense variant, weak in silico, REVEL 0.268) \nSources: Literature",
"entity_name": "WDR18",
"entity_type": "gene"
},
{
"created": "2025-09-02T19:40:41.572393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2963",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MIS18BP1 was added\ngene: MIS18BP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MIS18BP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIS18BP1 were set to PMID: 40677927\nPhenotypes for gene: MIS18BP1 were set to Cornelia de Lange syndrome (MONDO:0016033)\nReview for gene: MIS18BP1 was set to RED\nAdded comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing.\r\n\r\nIn addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals:\r\n\r\n- ARID3A (missense variant, REVEL 0.72)\r\n- PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS)\r\n- MCM7 (LoF variant, gene linked with cohesin complex)\r\n- MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60)\r\n- WDR18 (missense variant, weak in silico, REVEL 0.268) \nSources: Literature",
"entity_name": "MIS18BP1",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:52:12.817777+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX18 as Green List (high evidence)",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:52:12.806704+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Green List (High Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:47:38.905720+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYPK as ready",
"entity_name": "HYPK",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:47:38.893798+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hypk has been classified as Red List (Low Evidence).",
"entity_name": "HYPK",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:47:30.962643+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYPK was added\ngene: HYPK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HYPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HYPK were set to Clinical Genetics Early View\nPhenotypes for gene: HYPK were set to Neurodevelopmental disorder, MONDO:0700092, HYPK-related\nReview for gene: HYPK was set to RED\nAdded comment: Single case report - Patel, R. et al 2025 Clinical Genetics Early View\r\n\r\nMale proband with developmental delay, autism and facial dysmorphism with a de novo missense HYPK variant (p. R70I). Variant-specific biochemical analyses demonstrates enhanced inhibitory activity of HYPK on NatA-mediated N-terminal protein acetylation.\r\n\r\nGestaltMatcher analysis indicates that the proband's facial phenotype closely resembles Ogden syndrome (NAA10) and some resemblance to NAA15-NDS - both associated genes are also involved in the N-terminal acetylation pathway. \nSources: Literature",
"entity_name": "HYPK",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:45:30.138148+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX39A as ready",
"entity_name": "DDX39A",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:45:30.125304+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx39a has been classified as Red List (Low Evidence).",
"entity_name": "DDX39A",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:45:21.675384+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX39A was added\ngene: DDX39A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DDX39A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX39A were set to 40726340\nPhenotypes for gene: DDX39A were set to Neurodevelopmental disorder, MONDO:0700092, DDX39A-related\nReview for gene: DDX39A was set to RED\nAdded comment: PMID: 40726340 Ahmed et al 2025 (Clinical Genetics) report a 7 month old F with GDD, seizures, microcephaly, hypotonia, corpus callosum thinning and homozygous missense variant (p.Lys137Gln) in DDX39A on trio WES with both non-consanguineous parents confirmed to be heterozygous carriers. DDX39A is involved in mRNA splicing and export. Patient-derived fibroblast studies showed that mutant protein resulted in aberrant nuclear clumping and failure to interact with the TREX complex.\r\n\r\nOf note, closely-related paralogue DDX39B is also a component of the TREX complex and has a definitive monoallelic association with neurodevelopmental disorder. \nSources: Literature",
"entity_name": "DDX39A",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:43:01.885137+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID3A as ready",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:43:01.874519+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid3a has been classified as Red List (Low Evidence).",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:42:50.040973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID3A was added\ngene: ARID3A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ARID3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID3A were set to 40677927\nPhenotypes for gene: ARID3A were set to Cornelia de Lange syndrome - MONDO:0016033\nReview for gene: ARID3A was set to RED\nAdded comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing.\r\n\r\nIn addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals:\r\n\r\n- ARID3A (missense variant, REVEL 0.72)\r\n- PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS)\r\n- MCM7 (LoF variant, gene linked with cohesin complex)\r\n- MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60)\r\n- WDR18 (missense variant, weak in silico, REVEL 0.268) \nSources: Literature",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:40:48.561301+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3C3 as ready",
"entity_name": "PIK3C3",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:40:48.550772+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c3 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3C3",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:40:35.060628+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3C3 was added\ngene: PIK3C3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PIK3C3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3C3 were set to 40677927\nPhenotypes for gene: PIK3C3 were set to Cornelia de Lange syndrome - MONDO:0016033\nReview for gene: PIK3C3 was set to RED\nAdded comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing.\r\n\r\nIn addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals:\r\n\r\n- ARID3A (missense variant, REVEL 0.72)\r\n- PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS)\r\n- MCM7 (LoF variant, gene linked with cohesin complex)\r\n- MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60)\r\n- WDR18 (missense variant, weak in silico, REVEL 0.268) \nSources: Literature",
"entity_name": "PIK3C3",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:37:39.423013+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED29 as ready",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:37:39.413146+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:37:34.799311+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED29 as Amber List (moderate evidence)",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:37:34.789224+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:37:08.334312+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED29 as ready",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:37:08.323030+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:37:04.288320+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED29 as Amber List (moderate evidence)",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:37:04.277792+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:36:34.679921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED29 as ready",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:36:34.668592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:36:25.619878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED29 as Amber List (moderate evidence)",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:36:25.608163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:35:09.860490+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED29 as Amber List (moderate evidence)",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:35:09.813082+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:34:39.612197+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED29 as Amber List (moderate evidence)",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:34:39.578053+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:32:26.982626+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLYAT as ready",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:32:26.975735+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glyat has been classified as Red List (Low Evidence).",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:32:20.454488+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLYAT was added\ngene: GLYAT was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: GLYAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLYAT were set to 40747359\nPhenotypes for gene: GLYAT were set to Neurodevelopmental disorder, MONDO:0700092, GLYAT-related\nReview for gene: GLYAT was set to RED\nAdded comment: Single individual reported with homozygous LoF variant, p.Q108Ter. The individual was treated with pantothenic acid and a mitochondrial cocktail consisting of coenzyme Q10, vitamins B1, B2, B6, B12, C, folate, and carnitine, together with a low-protein diet, which led to the alleviation of oedema and hypotonia and an improvement in her motor function and social interactions. Her serum glycine level was also normalized. \nSources: Literature",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:32:01.787061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLYAT as ready",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:32:01.776606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glyat has been classified as Red List (Low Evidence).",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:31:11.079767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLYAT was added\ngene: GLYAT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GLYAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLYAT were set to 40747359\nPhenotypes for gene: GLYAT were set to Neurodevelopmental disorder, MONDO:0700092, GLYAT-related\nReview for gene: GLYAT was set to RED\nAdded comment: Single individual reported with homozygous LoF variant, p.Q108Ter. The individual was treated with pantothenic acid and a mitochondrial cocktail consisting of coenzyme Q10, vitamins B1, B2, B6, B12, C, folate, and carnitine, together with a low-protein diet, which led to the alleviation of oedema and hypotonia and an improvement in her motor function and social interactions. Her serum glycine level was also normalized. \nSources: Literature",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:30:05.443642+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLYAT as ready",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:30:05.431890+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glyat has been classified as Red List (Low Evidence).",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:29:56.803126+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported with homozygous LoF variant, p.Q108Ter. The individual was treated with pantothenic acid and a mitochondrial cocktail consisting of coenzyme Q10, vitamins B1, B2, B6, B12, C, folate, and carnitine, together with a low-protein diet, which led to the alleviation of edema and hypotonia and an improvement in her motor function and social interactions. Her serum glycine level was also normalized. \nSources: Literature; to: Single individual reported with homozygous LoF variant, p.Q108Ter. The individual was treated with pantothenic acid and a mitochondrial cocktail consisting of coenzyme Q10, vitamins B1, B2, B6, B12, C, folate, and carnitine, together with a low-protein diet, which led to the alleviation of oedema and hypotonia and an improvement in her motor function and social interactions. Her serum glycine level was also normalized. \r\nSources: Literature",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:29:44.360400+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLYAT was added\ngene: GLYAT was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GLYAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLYAT were set to 40747359\nPhenotypes for gene: GLYAT were set to Neurodevelopmental disorder, MONDO:0700092, GLYAT-related\nReview for gene: GLYAT was set to RED\nAdded comment: Single individual reported with homozygous LoF variant, p.Q108Ter. The individual was treated with pantothenic acid and a mitochondrial cocktail consisting of coenzyme Q10, vitamins B1, B2, B6, B12, C, folate, and carnitine, together with a low-protein diet, which led to the alleviation of edema and hypotonia and an improvement in her motor function and social interactions. Her serum glycine level was also normalized. \nSources: Literature",
"entity_name": "GLYAT",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:26:02.688105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDRD12 as ready",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:26:02.676227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:25:52.218387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TDRD12 as Amber List (moderate evidence)",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:25:52.189170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:25:37.360900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TDRD12 was added\ngene: TDRD12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TDRD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDRD12 were set to 40750267\nPhenotypes for gene: TDRD12 were set to Spermatogenic failure, MONDO:0004983, TDRD12-related\nReview for gene: TDRD12 was set to AMBER\nAdded comment: Two novel homozygous TDRD12 variants (c.3378dupG and c.2463C>G) reported in two unrelated infertile men, respectively. Patient 1 had a TDRD12 frameshift mutation (c.3378dupG), resulting in a truncated protein lacking the cysteine-rich domain. This individual presented with teratozoospermia, characterized by abnormal sperm morphology, including defects in the head and flagellum. Patient 2 had a TDRD12 nonsense mutation (c.2463C>G), resulting in complete degradation of the protein. This individual exhibited azoospermia, characterized by germ cell maturation arrest at the spermatocyte stage. \nSources: Literature",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:24:25.573084+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDRD12 as ready",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:24:25.559970+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:24:21.612481+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TDRD12 as Amber List (moderate evidence)",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:24:21.601508+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:24:09.220992+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TDRD12 was added\ngene: TDRD12 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TDRD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDRD12 were set to 40750267\nPhenotypes for gene: TDRD12 were set to Spermatogenic failure, MONDO:0004983, TDRD12-related\nReview for gene: TDRD12 was set to AMBER\nAdded comment: Two novel homozygous TDRD12 variants (c.3378dupG and c.2463C>G) reported in two unrelated infertile men, respectively. Patient 1 had a TDRD12 frameshift mutation (c.3378dupG), resulting in a truncated protein lacking the cysteine-rich domain. This individual presented with teratozoospermia, characterized by abnormal sperm morphology, including defects in the head and flagellum. Patient 2 had a TDRD12 nonsense mutation (c.2463C>G), resulting in complete degradation of the protein. This individual exhibited azoospermia, characterized by germ cell maturation arrest at the spermatocyte stage. \nSources: Literature",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:20:13.208065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC189 as ready",
"entity_name": "CCDC189",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:20:13.197425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc189 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC189",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:20:02.894021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC189 was added\ngene: CCDC189 was added to Mendeliome. Sources: Literature\nnew gene name tags were added to gene: CCDC189.\nMode of inheritance for gene: CCDC189 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC189 were set to 40759592\nPhenotypes for gene: CCDC189 were set to Spermatogenic failure, MONDO:0004983, CCDC189-related\nReview for gene: CCDC189 was set to RED\nAdded comment: Single individual with biallelic variants. Limited functional data. \r\n\r\nNew HGNC approved name CFAP119. \nSources: Literature",
"entity_name": "CCDC189",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:18:34.141464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1orf109 as ready",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:18:34.130308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf109 has been classified as Green List (High Evidence).",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:18:24.188876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1orf109 as Green List (high evidence)",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:18:24.179499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf109 has been classified as Green List (High Evidence).",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:17:59.817978+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC189 as ready",
"entity_name": "CCDC189",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:17:59.810276+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name CFAP119.",
"entity_name": "CCDC189",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:17:59.792719+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc189 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC189",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:17:41.861084+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: CCDC189.",
"entity_name": "CCDC189",
"entity_type": "gene"
},
{
"created": "2025-09-02T18:17:23.218528+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC189 was added\ngene: CCDC189 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CCDC189 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC189 were set to 40759592\nPhenotypes for gene: CCDC189 were set to Spermatogenic failure, MONDO:0004983, CCDC189-related\nReview for gene: CCDC189 was set to RED\nAdded comment: Single individual with biallelic variants. Limited functional data. \nSources: Literature",
"entity_name": "CCDC189",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:34:20.333489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C1orf109 was added\ngene: C1orf109 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C1orf109 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1orf109 were set to 40760247\nPhenotypes for gene: C1orf109 were set to Neurodevelopmental disorder, MONDO:0700092, C1orf109-related\nReview for gene: C1orf109 was set to GREEN\nAdded comment: Cohort of 11 unrelated families, encompassing 18 individuals with bi-allelic variants in C1orf109, 17 liveborn. Affected individuals presented with moderate-to-severe or severe global developmental delay/intellectual disability (17 of 17) and never achieved developmental milestones. Microcephaly and seizures were other common features. Reduced ribosome activity demonstrated during early brain development. \nSources: Literature",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:33:59.992173+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1orf109 as ready",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:33:59.984142+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf109 has been classified as Green List (High Evidence).",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:33:16.115828+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1orf109 as Green List (high evidence)",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:33:16.104815+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf109 has been classified as Green List (High Evidence).",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:32:52.245038+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1orf109 as ready",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:32:52.235102+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf109 has been classified as Green List (High Evidence).",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:32:49.097753+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1orf109 as Green List (high evidence)",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:32:49.086582+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf109 has been classified as Green List (High Evidence).",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:32:46.181361+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C1orf109 was added\ngene: C1orf109 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: C1orf109 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1orf109 were set to 40760247\nPhenotypes for gene: C1orf109 were set to Neurodevelopmental disorder, MONDO:0700092, C1orf109-related\nReview for gene: C1orf109 was set to GREEN\nAdded comment: Cohort of 11 unrelated families, encompassing 18 individuals with bi-allelic variants in C1orf109, 17 liveborn. Affected individuals presented with moderate-to-severe or severe global developmental delay/intellectual disability (17 of 17) and never achieved developmental milestones. Microcephaly and seizures were other common features. Reduced ribosome activity demonstrated during early brain development. \nSources: Literature",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:32:30.189140+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C1orf109 was added\ngene: C1orf109 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: C1orf109 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1orf109 were set to 40760247\nPhenotypes for gene: C1orf109 were set to Neurodevelopmental disorder, MONDO:0700092, C1orf109-related\nReview for gene: C1orf109 was set to GREEN\nAdded comment: Cohort of 11 unrelated families, encompassing 18 individuals with bi-allelic variants in C1orf109, 17 liveborn. Affected individuals presented with moderate-to-severe or severe global developmental delay/intellectual disability (17 of 17) and never achieved developmental milestones. Microcephaly and seizures were other common features. Reduced ribosome activity demonstrated during early brain development. \nSources: Literature",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:30:24.943452+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1orf109 as ready",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:30:24.933013+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf109 has been classified as Green List (High Evidence).",
"entity_name": "C1orf109",
"entity_type": "gene"
}
]
}