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{
"count": 221292,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=235",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=233",
"results": [
{
"created": "2025-05-02T20:43:57.202604+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPKOW were set to 28612833",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:43:47.077137+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPKOW were changed from male-lethal microcephaly with intrauterine growth restriction to syndromic disease, MONDO:0002254, GPKOW-related",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:43:27.846544+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPKOW as ready",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:43:27.834432+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpkow has been classified as Green List (High Evidence).",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:43:11.129265+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPKOW were changed from microcephaly MONDO:0001149; fetal growth restriction MONDO:0005030 to syndromic disease, MONDO:0002254, GPKOW-related",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:42:27.634912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPKOW were changed from male-lethal microcephaly with intrauterine growth restriction to syndromic disease, MONDO:0002254, GPKOW-related",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:41:58.966058+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPKOW were set to 28612833",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:40:12.902955+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO22 as ready",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:40:12.892689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo22 has been classified as Green List (High Evidence).",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:39:56.132434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO22 as Green List (high evidence)",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:39:56.122554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo22 has been classified as Green List (High Evidence).",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:39:33.464159+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO22 as ready",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:39:33.446602+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo22 has been classified as Green List (High Evidence).",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:39:26.765892+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO22 as Green List (high evidence)",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:39:26.759149+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo22 has been classified as Green List (High Evidence).",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:38:59.884869+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO22 as ready",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:38:59.874883+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo22 has been classified as Green List (High Evidence).",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:38:55.065129+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO22 as Green List (high evidence)",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:38:55.058103+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo22 has been classified as Green List (High Evidence).",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T20:02:26.186722+10:00",
"panel_name": "Immunological disorders_SuperPanel",
"panel_id": 239,
"panel_version": "15.2",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Autoinflammatory Disorders; Combined Immunodeficiency; Bone Marrow Failure; Phagocyte Defects; Defects of intrinsic and innate immunity; Disorders of immune dysregulation; Severe Combined Immunodeficiency (absent T present B cells); Severe Combined Immunodeficiency (absent T absent B cells); Hereditary angioedema; Predominantly Antibody Deficiency; Autoimmune Lymphoproliferative Syndrome; Susceptibility to Viral Infections; Complement Deficiencies; Inflammatory bowel disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-05-02T19:32:02.499856+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-05-02T19:31:14.834470+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: STAT2 were changed from to Susceptibility to viral disease",
"entity_name": "STAT2",
"entity_type": "gene"
},
{
"created": "2025-05-02T19:30:51.635665+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAT2",
"entity_type": "gene"
},
{
"created": "2025-05-02T19:13:51.368836+10:00",
"panel_name": "Immunological disorders_SuperPanel",
"panel_id": 239,
"panel_version": "14.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Autoinflammatory Disorders; Combined Immunodeficiency; Bone Marrow Failure; Phagocyte Defects; Defects of intrinsic and innate immunity; Disorders of immune dysregulation; Severe Combined Immunodeficiency (absent T present B cells); Severe Combined Immunodeficiency (absent T absent B cells); Susceptibility to Fungal Infections; Hereditary angioedema; Predominantly Antibody Deficiency; Autoimmune Lymphoproliferative Syndrome; Complement Deficiencies; Susceptibility to Viral Infections; Inflammatory bowel disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-05-02T14:42:28.521000+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.76",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: FBXO22 was added\ngene: FBXO22 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: FBXO22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXO22 were set to PMID: 40215970\nPhenotypes for gene: FBXO22 were set to Neurodevelopmental disorder, MONDO:0700092, FBXO22-related\nReview for gene: FBXO22 was set to GREEN\nAdded comment: Encodes substrate recognition component of SCF E3 ubiquitin ligase complex. Has role in post translational ubiquitination and degradation of certain substrates e.g. histone demethylases.\r\n\r\n14 cases from 12 families published with affected individuals noted to have homozygous frameshift variants (FBXO22:c.159_162del,c.8_36del,c.719_722del - all rare/absent gnomad v4).\r\n\r\nPhenotype included prenatal growth restriction/short stature, neurodevelopmental delay, microcephaly, hypotonia, seizures, craniofacial dysmorphisms (high forehead, depressed nasal bridge, hypertelorism), variable additional findings including cardiovascular and gastrointestinal anomalies.\r\n\r\nSupportive functional studies - FBXO22 is involved of degradation of KDM4B, KDM4B protein levels in one affected individual were found to be higher than control. Unique genome wide episignature identified for FBXO22 in 3 individuals with the disorder (given loss of this protein results in increased levels of various histone demethylases). \nSources: Literature",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T14:41:16.307196+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.132",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: FBXO22 was added\ngene: FBXO22 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FBXO22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXO22 were set to PMID: 40215970\nPhenotypes for gene: FBXO22 were set to Neurodevelopmental disorder, MONDO:0700092, FBXO22-related\nReview for gene: FBXO22 was set to GREEN\nAdded comment: Encodes substrate recognition component of SCF E3 ubiquitin ligase complex. Has role in post translational ubiquitination and degradation of certain substrates e.g. histone demethylases.\r\n\r\n14 cases from 12 families published with affected individuals noted to have homozygous frameshift variants (FBXO22:c.159_162del,c.8_36del,c.719_722del - all rare/absent gnomad v4).\r\n\r\nPhenotype included prenatal growth restriction/short stature, neurodevelopmental delay, microcephaly, hypotonia, seizures, craniofacial dysmorphisms (high forehead, depressed nasal bridge, hypertelorism), variable additional findings including cardiovascular and gastrointestinal anomalies.\r\n\r\nSupportive functional studies - FBXO22 is involved of degradation of KDM4B, KDM4B protein levels in one affected individual were found to be higher than control. Unique genome wide episignature identified for FBXO22 in 3 individuals with the disorder (given loss of this protein results in increased levels of various histone demethylases). \nSources: Literature",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T14:39:50.226006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2558",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: FBXO22 was added\ngene: FBXO22 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FBXO22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXO22 were set to PMID: 40215970\nPhenotypes for gene: FBXO22 were set to Neurodevelopmental disorder, MONDO:0700092, FBXO22-related\nReview for gene: FBXO22 was set to GREEN\nAdded comment: Encodes substrate recognition component of SCF E3 ubiquitin ligase complex. Has role in post translational ubiquitination and degradation of certain substrates e.g. histone demethylases. \r\n\r\n14 cases from 12 families published with affected individuals noted to have homozygous frameshift variants (FBXO22:c.159_162del,c.8_36del,c.719_722del - all rare/absent gnomad v4). \r\n\r\nPhenotype included prenatal growth restriction/short stature, neurodevelopmental delay, microcephaly, hypotonia, seizures, craniofacial dysmorphisms (high forehead, depressed nasal bridge, hypertelorism), variable additional findings including cardiovascular and gastrointestinal anomalies. \r\n\r\nSupportive functional studies - FBXO22 is involved of degradation of KDM4B, KDM4B protein levels in one affected individual were found to be higher than control. Unique genome wide episignature identified for FBXO22 in 3 individuals with the disorder (given loss of this protein results in increased levels of various histone demethylases). \nSources: Literature",
"entity_name": "FBXO22",
"entity_type": "gene"
},
{
"created": "2025-05-02T14:29:10.420747+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.132",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: Note current HGNC accepted gene name RNU2-2\r\nPreviously referred to as RNU2-2P\r\nUpstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74\r\nEncodes part of minor spliceosome (RNA) - non protein coding gene. \r\n\r\nTotal of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.\r\n\r\nRecurrent variants included n.4G>A and n.35A>G\r\n(should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors).; to: Note current HGNC accepted gene name RNU2-2\r\nPreviously referred to as RNU2-2P\r\nUpstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74\r\nEncodes part of minor spliceosome (RNA) - non protein coding gene. \r\n\r\nTotal of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.\r\n\r\nRecurrent variants included n.4G>A and n.35A>G\r\n(both absent from gnomad v4, should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors).",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-05-02T14:28:57.903871+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.148",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: Note current HGNC accepted gene name RNU2-2\r\nPreviously referred to as RNU2-2P\r\nUpstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74\r\nEncodes part of minor spliceosome (RNA) - non protein coding gene.\r\n\r\nTotal of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.\r\n\r\nRecurrent variants included n.4G>A and n.35A>G\r\n(should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors).; to: Note current HGNC accepted gene name RNU2-2\r\nPreviously referred to as RNU2-2P\r\nUpstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74\r\nEncodes part of minor spliceosome (RNA) - non protein coding gene.\r\n\r\nTotal of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.\r\n\r\nRecurrent variants included n.4G>A and n.35A>G\r\n(both absent from gnomad v4, should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors).",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-05-02T14:28:26.462838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2558",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: Note current HGNC accepted gene name RNU2-2\r\nPreviously referred to as RNU2-2P\r\nUpstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74\r\nEncodes part of minor spliceosome (RNA) - non protein coding gene.\r\n\r\nTotal of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.\r\n\r\nRecurrent variants included n.4G>A and n.35A>G\r\n(should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors); to: Note current HGNC accepted gene name RNU2-2\r\nPreviously referred to as RNU2-2P\r\nUpstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74\r\nEncodes part of minor spliceosome (RNA) - non protein coding gene.\r\n\r\nTotal of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.\r\n\r\nRecurrent variants included n.4G>A and n.35A>G\r\n(both absent from gnomad v4, should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors)",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-05-02T11:39:47.011698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2558",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: RNU2-2P: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40210679; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-05-02T11:38:16.221057+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.148",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: RNU2-2P: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40210679; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-05-02T07:19:21.733739+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.309",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GPKOW as Green List (high evidence)",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T07:19:21.727017+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.309",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gpkow has been classified as Green List (High Evidence).",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T07:19:05.767917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2558",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GPKOW as Green List (high evidence)",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T07:19:05.755877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2558",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gpkow has been classified as Green List (High Evidence).",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T07:18:54.313867+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.329",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GPKOW as Green List (high evidence)",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T07:18:54.306936+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.329",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gpkow has been classified as Green List (High Evidence).",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T07:18:45.988363+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.308",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GPKOW was added\ngene: GPKOW was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: GPKOW were set to PMID: 40221893, 28612833\nPhenotypes for gene: GPKOW were set to microcephaly MONDO:0001149; fetal growth restriction MONDO:0005030\nReview for gene: GPKOW was set to GREEN\nAdded comment: GPKOW, a gene on the X-chromosome, encodes a nuclear RNA-binding protein important in mRNA processing as a spliceosome subunit. It has been shown in numerous model organisms and in human cells to be essential for survival.\r\n\r\nPMID: 40221893\r\n2 unrelated families with 3 affected males (deceased) presenting with IUGR, microcephaly, congenital ichthyosis, eye anomalies (microphthalmia, coloboma, ON hypoplasia), brain anomalies (absent septum pellucidum, ventriculomegaly), and skeletal anomalies (platyspondyly, brachydactyly). Trio WES/WGS testing identified 2 hemizygous frameshift variants affecting the last exon of GPKOW [p.(Arg441SerfsTer30) and p.(Ser444GlufsTer28)]. Some heterozygote females presented with short stature, microcephaly, and vision problems. Sequencing of fibroblasts' mRNA showed that GPKOW mRNA escapes nonsense-mediated decay but protein expression is reduced, suggesting protein instability. Studies in Drosophila showed that Gpkow is broadly expressed and is enriched in neurons and glia in eyes and head of developing and adult flies. Knockdown and overexpression of Gpkow in the fly eye cause eyeless/headless phenotype suggesting that the gene is dosage sensitive. Overexpression of the p.(Ser444GlufsTer28) variant caused milder defects than the reference allele, indicating that the truncated protein behaves as a partial loss-of-function allele.\r\n\r\nPMID: 28612833\r\n1 family with 5 affected males (stillbirth/TOP) with severe microcephaly and intrauterine growth restriction. X-exome sequencing in an obligate carrier identified a potential splice variant in the GPKOW gene (c.331+5G>A). The variant segregated in 9 additional family members, including one affected male fetus. GPKOW transcripts, in lymphoblastoid cell lines of 3 carrier females, showed that the variant disrupts normal splicing of its pre-mRNAs. A clonal culture expressing only the c.331+5G>A allele isolated from one carrier female LCL, showed an 80% reduction in wild type GPKOW mRNA, 70% reduction in the full length GPKOW protein and the presence of a truncated GPKOW protein with possible dominant negative effect. \nSources: Literature",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T07:18:37.901968+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.328",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40221893, 28612833; Phenotypes: microcephaly MONDO:0001149, fetal growth restriction MONDO:0005030; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-02T07:18:35.878052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2557",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40221893, 28612833; Phenotypes: microcephaly MONDO:0001149, fetal growth restriction MONDO:0005030; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2025-05-01T21:28:09.010514+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-05-01T21:27:36.869087+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.87",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-05-01T20:59:39.492072+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:58:49.507573+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: THBD as Red List (low evidence)",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:58:49.504683+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Refuted gene-disease classification by ClinGen Complement-Mediated Kidney Diseases GCEP - https://search.clinicalgenome.org/CCID:008288",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:58:49.484236+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: thbd has been classified as Red List (Low Evidence).",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:57:02.110763+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:40:01.445850+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:39:22.368508+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.85",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CFHR5 as Green List (high evidence)",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:39:22.365188+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.85",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: IUIS include this gene on their July 2024 list of inborn errors of immunology",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:39:22.342020+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.85",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cfhr5 has been classified as Green List (High Evidence).",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:30:55.253334+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CFHR3 were set to ",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:30:09.852004+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CFHR3 as Green List (high evidence)",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:30:09.847616+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: IUIS include this gene on their July 2024 list of inborn errors of immunology",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:30:09.816188+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cfhr3 has been classified as Green List (High Evidence).",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:28:56.534542+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CFHR2 as Green List (high evidence)",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:28:56.531671+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: IUIS include this gene on their July 2024 list of inborn errors of immunology",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:28:56.510125+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cfhr2 has been classified as Green List (High Evidence).",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:27:36.462471+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CFHR1 were set to ",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:27:09.555370+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:24:17.917459+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CFHR1 as Green List (high evidence)",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:24:17.913612+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: IUIS include this gene on their July 2024 list of inborn errors of immunology",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:24:17.883911+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cfhr1 has been classified as Green List (High Evidence).",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:18:00.259379+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CFB were changed from Complement factor B deficiency, MIM# 615561 to complement factor b deficiency MONDO:0014255; Atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0013042",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:17:33.225671+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CFB: Changed phenotypes: complement factor b deficiency MONDO:0014255, Atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0013042",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:16:24.787869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2557",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 33165708, 24152280; Phenotypes: complement factor b deficiency MONDO:0014255; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:15:20.936465+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CFB were set to 24152280",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:14:58.198660+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:14:32.728825+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CFB as Green List (high evidence)",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:14:32.721701+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cfb has been classified as Green List (High Evidence).",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2025-05-01T20:14:08.701209+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33165708, 24152280, 17182750; Phenotypes: complement factor b deficiency MONDO:0014255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2025-05-01T19:50:35.275645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIRT1 were changed from autoimmune disease, MONDO:0007179 to autoimmune disease, MONDO:0007179; monogenic diabetes MONDO:0015967",
"entity_name": "SIRT1",
"entity_type": "gene"
},
{
"created": "2025-05-01T19:50:13.250412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SIRT1",
"entity_type": "gene"
},
{
"created": "2025-05-01T19:50:07.770318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIRT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: monogenic diabetes MONDO:0015967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIRT1",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:39:35.231583+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIRT1 as ready",
"entity_name": "SIRT1",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:39:35.225876+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sirt1 has been classified as Red List (Low Evidence).",
"entity_name": "SIRT1",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:39:29.736850+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIRT1 as Red List (low evidence)",
"entity_name": "SIRT1",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:39:29.725864+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sirt1 has been classified as Red List (Low Evidence).",
"entity_name": "SIRT1",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:38:09.797202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NARS were changed from Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Hereditary peripheral neuropathy, MONDO:0020127, NARS-related",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:37:50.541772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NARS were set to 32738225",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:37:30.941344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NARS: Added comment: Three families with isolated neuropathy and missense variants in this gene. Segregation and functional evidence. Likely phone expansion into the milder end of the spectrum for NARS-related disorders.; Changed publications: 32738225, 38495304, 38769024; Changed phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Hereditary peripheral neuropathy, MONDO:0020127, NARS-related, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:28:09.484361+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOS3 as ready",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:28:09.473044+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:28:05.635365+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOS3 as Amber List (moderate evidence)",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:28:05.628753+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:27:49.512495+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOS3 was added\ngene: NOS3 was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: NOS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOS3 were set to 36941667; 37383439\nPhenotypes for gene: NOS3 were set to Moyamoya disease, MONDO:0016820\nReview for gene: NOS3 was set to AMBER\nAdded comment: PMID:36941667 analysed six patients from a cohort of 126 consecutive unrelated probands with Moyamoya angiopathy (MMA) of unknown etiology. Two of these six patients were identified with homozygous NOS3 variants, of which one is missense (c.1942T> C, p.(Cys648Arg)) and the other is splice-site variant (c.1502 + 1G > C). Both probands with NOS3 variants suffered from an infant-onset and severe MMA associated with posterior cerebral artery steno-occlusive lesions. There is also some functional evidence available for both variants.\r\n\r\nPMID:37383439 reported six patients with Moyamoya disease, of which one patient was identified with monoallelic missense NOS3 variant (c.1684G>A; p.Glu562Lys.\r\n\r\nIn summary, there are two unrelated cases and some functional evidence available for the association of biallelic variants with MMA. However, there is only one case with monoallelic NOS3 variant. The pathogenicity of this monoallelic variant was not explored in detail in the publication \nSources: Literature",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:26:20.695746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOS3 were changed from {Hypertension, susceptibility to}, MIM#145500; {Ischemic stroke, susceptibility to}, MIM# 601367; {Hypertension, pregnancy-induced}, MIM# 189800 to Moyamoya disease, MONDO:0016820",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:26:04.888923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOS3 were set to 24986538; 28084234; 33652340",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:25:48.267992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:25:29.973713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOS3 as Amber List (moderate evidence)",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:25:29.963184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:24:30.450057+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KEL as ready",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:24:30.443893+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kel has been classified as Red List (Low Evidence).",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:24:24.352097+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KEL was added\ngene: KEL was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: KEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KEL were set to 30578106; 37978175\nPhenotypes for gene: KEL were set to vein of Galen aneurysm, MONDO:0015196\nReview for gene: KEL was set to RED\nAdded comment: PMID:37978175 reported a cohort of 114 probands with radiographically confirmed vein of Galen malformations (VOGMs), which is the most common and most severe of congenital brain arteriovenous malformations. This includes 55 cases already reported in PMID:30578106. Of these cases, only two were identified with variants in KEL gene (p.(Gln321Ter) & p.(Gly202Ser)).There is no functional evidence or segregation evidence available. \nSources: Literature",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:22:57.548251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KEL were changed from [Blood group, Kell]\t110900 to vein of Galen aneurysm, MONDO:0015196",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:22:33.928185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KEL were set to ",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:22:19.024023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KEL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:21:52.801052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KEL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: vein of Galen aneurysm, MONDO:0015196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2025-05-01T18:14:31.940536+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAP43 as ready",
"entity_name": "GAP43",
"entity_type": "gene"
}
]
}