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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=163",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=161",
"results": [
{
"created": "2025-09-29T12:09:13.522093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ND4L as Amber List (moderate evidence)",
"entity_name": "MT-ND4L",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:09:13.508194+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd4l has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-ND4L",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:08:56.719140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND4L was added\ngene: MT-ND4L was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-ND4L.\nMode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL\nPublications for gene: MT-ND4L were set to 8680405; 11935318; 17003408; 22879922; 24568867\nPhenotypes for gene: MT-ND4L were set to Mitochondrial disease (MONDO:0044970), MT-ND4L-related\nReview for gene: MT-ND4L was set to AMBER\nAdded comment: LIMITED by ClinGen.\r\n\r\nSeven probands with m.10063T>C have been reported across five publications, all of whom had LHON. These cases were scored with reduced points by ClinGen given the mild impact this variant has been shown to have on complex I function. While three other missense variants (m.10543A>G, m.10591T>G, m.10680G>A) have been reported, the ClinGen Expert Panel agreed there was only sufficient evidence of pathogenicity for the m.10663T>C variant. Cases with m.10680G>A and m.10543A>G and m.10591T>G were reviewed but excluded from scoring due to a lack of compelling functional evidence to support pathogenicity. The m.10543A>G variant has been modeled in E. coli and showed a very mild reduction in NADH dehydrogenase activity (74% of control), which was not sufficient to be included in scoring. \nSources: Expert list",
"entity_name": "MT-ND4L",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:02:41.496683+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-ND4 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia to Mitochondrial disease (MONDO:0044970), MT-ND4-related",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:02:12.287397+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-ND4 were set to ",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:01:41.927862+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MT-ND4: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported presenting with a broad phenotypic spectrum of clinical features including Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); LSS; cerebellar ataxia, migraines, regression, developmental delay, leukoencephalopathy, myoclonus, seizures, stroke-like episodes, cognitive decline, psychiatric illness, Parkinsonism, axonal neuropathy, multiple sclerosis, ophthalmoplegia, short stature, and hypertrophic cardiomyopathy. Age of onset varied from infancy to adulthood. Muscle biopsy showed COX-negative fibers and complex I deficiency.\r\n\r\nHeteroplasmy levels in affected individuals ranged from 60% - 83% in muscle, 40% - 80% in blood, and 76% - 78% in myoblasts, as well as from 57% - 73% in various other tissues (fibroblasts, liver, urine, buccal). Of note, the m.11778G>A common LHON variant was reported in affected individuals in the homoplasmic and heteroplasmic states.",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:01:21.199690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND4 as ready",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:01:21.191953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd4 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:01:11.132023+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ND4: Changed publications: 12707444, 16120329, 15576045, 20502985, 27761019, 32445240, 32659360, 3201231; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND4-related",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:00:41.538814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ND4 as Green List (high evidence)",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:00:41.529817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd4 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-09-29T12:00:25.842418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND4 was added\ngene: MT-ND4 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-ND4.\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPublications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231\nPhenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related\nReview for gene: MT-ND4 was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported presenting with a broad phenotypic spectrum of clinical features including Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); LSS; cerebellar ataxia, migraines, regression, developmental delay, leukoencephalopathy, myoclonus, seizures, stroke-like episodes, cognitive decline, psychiatric illness, Parkinsonism, axonal neuropathy, multiple sclerosis, ophthalmoplegia, short stature, and hypertrophic cardiomyopathy. Age of onset varied from infancy to adulthood. Muscle biopsy showed COX-negative fibers and complex I deficiency.\r\n\r\nHeteroplasmy levels in affected individuals ranged from 60% - 83% in muscle, 40% - 80% in blood, and 76% - 78% in myoblasts, as well as from 57% - 73% in various other tissues (fibroblasts, liver, urine, buccal). Of note, the m.11778G>A common LHON variant was reported in affected individuals in the homoplasmic and heteroplasmic states. \nSources: Expert list",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:56:48.845246+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-ND3 were changed from Complex I deficiency to Mitochondrial disease (MONDO:0044970), MT-ND3-related",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:56:18.420326+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-ND3 were set to ",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:55:44.509583+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ND3: Added comment: DEFINITIVE by ClinGen.\r\n\r\nMore than 15 affected individuals reported. Three variants are recurrent (m.10158T>C, m.10191T>C, m.10197G>A). Affected individuals present with a broad phenotypic spectrum of clinical features including LSS; Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); lactic acidosis, epilepsia partialis continua (EPC), epileptic encephalopathy, dystonia, and optic atrophy. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsy showed and complex I deficiency.; Changed publications: 1928099, 14705112, 14764913, 17152068, 20202874, 25118196, 25384404, 11456298, 19458970, 30199507, 29237403; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND3-related",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:55:29.466249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND3 as ready",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:55:29.459274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd3 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:55:00.925135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ND3 as Green List (high evidence)",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:55:00.912387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd3 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:54:44.796273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND3 was added\ngene: MT-ND3 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-ND3.\nMode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL\nPublications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403\nPhenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related\nReview for gene: MT-ND3 was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nMore than 15 affected individuals reported. Three variants are recurrent (m.10158T>C, m.10191T>C, m.10197G>A). Affected individuals present with a broad phenotypic spectrum of clinical features including LSS; Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); lactic acidosis, epilepsia partialis continua (EPC), epileptic encephalopathy, dystonia, and optic atrophy. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsy showed and complex I deficiency. \nSources: Expert list",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:50:58.479812+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-ND2 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy to Mitochondrial disease (MONDO:0044970), MT-ND2-related",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:50:27.765889+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-ND2 were set to ",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:49:52.862834+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ND2: Added comment: MODERATE by ClinGen. Multiple individuals reported. Age of onset in affected individuals ranged from 9 months old to childhood. Clinical features in affected individuals included Leigh syndrome spectrum, myopathy, ophthalmoplegia, and ptosis. Muscle biopsies revealed ragged red fibers and complex I deficiency. Metabolic screening labs showed elevated lactate and creatine kinase (CK). Heteroplasmy levels were >95% in blood, fibroblasts, and muscle in the individual with Leigh syndrome spectrum. However in the other two individuals with predominantly myopathic features, the variant was present at >94% in muscle and undetectable in other tissues tested.; Changed publications: 26258512, 16738010, 15781840, 12192017; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND2-related",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:49:36.531005+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND2 as ready",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:49:36.520521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd2 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:49:27.176392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ND2 as Green List (high evidence)",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:49:27.169061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd2 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:48:57.956467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND2 was added\ngene: MT-ND2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL\nPublications for gene: MT-ND2 were set to 26258512; 16738010; 15781840; 12192017\nPhenotypes for gene: MT-ND2 were set to Mitochondrial disease (MONDO:0044970), MT-ND2-related\nReview for gene: MT-ND2 was set to GREEN\nAdded comment: MODERATE by ClinGen.\r\n\r\nMultiple individuals reported. Age of onset in affected individuals ranged from 9 months old to childhood. Clinical features in affected individuals included Leigh syndrome spectrum, myopathy, ophthalmoplegia, and ptosis. Muscle biopsies revealed ragged red fibers and complex I deficiency. Metabolic screening labs showed elevated lactate and creatine kinase (CK). Heteroplasmy levels were >95% in blood, fibroblasts, and muscle in the individual with Leigh syndrome spectrum. However in the other two individuals with predominantly myopathic features, the variant was present at >94% in muscle and undetectable in other tissues tested. \nSources: Expert list",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:44:02.647709+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-ND1 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:43:32.969570+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-ND1 were set to ",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:42:59.736319+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ND1: Added comment: Multiple individuals reported with variants in this gene and a range of phenotypes consistent with mitochondrial disease, including LHON and Leigh syndrome.; Changed publications: 39147111, 36717040, 34656796; Changed phenotypes: Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:42:44.796359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND1 as ready",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:42:44.786162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd1 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:42:23.000765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ND1 as Green List (high evidence)",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:42:22.991001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd1 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:42:06.513332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND1 was added\ngene: MT-ND1 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-ND1.\nMode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL\nPublications for gene: MT-ND1 were set to 39147111; 36717040; 34656796\nPhenotypes for gene: MT-ND1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related\nReview for gene: MT-ND1 was set to GREEN\nAdded comment: Multiple individuals reported with variants in this gene and a range of phenotypes consistent with mitochondrial disease, including LHON and Leigh syndrome. \nSources: Expert list",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:35:57.342589+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-CYB were changed from Leber's optic atrophy; Encephalomyopathy; Cardiomyopathy to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:35:21.617316+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple individuals reported with variants in this gene and a range of clinical phenotypes consistent with mitochondrial disease.; to: Multiple individuals reported with variants in this gene and a range of clinical phenotypes consistent with mitochondrial disease, including Leber's optic atrophy, encephalomyopathy, and cardiomyopathy.",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:34:56.149107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple individuals reported with variants in this gene and a range of clinical phenotypes consistent with mitochondrial disease. \nSources: Expert list; to: Multiple individuals reported with variants in this gene and a range of clinical phenotypes consistent with mitochondrial disease, including Leber's optic atrophy, encephalomyopathy, and cardiomyopathy.\r\nSources: Expert list",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:34:39.073376+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CYB were set to ",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:34:09.567728+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-CYB: Added comment: Multiple individuals reported with variants in this gene and a range of clinical phenotypes consistent with mitochondrial disease.; Changed publications: 39858655, 34804306, 26937408; Changed phenotypes: mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:33:36.979695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CYB as ready",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:33:36.968693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-cyb has been classified as Green List (High Evidence).",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:33:28.093888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-CYB as Green List (high evidence)",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:33:28.083425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-cyb has been classified as Green List (High Evidence).",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:33:09.558605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CYB was added\ngene: MT-CYB was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-CYB.\nMode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL\nPublications for gene: MT-CYB were set to 39858655; 34804306; 26937408\nPhenotypes for gene: MT-CYB were set to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related\nReview for gene: MT-CYB was set to GREEN\nAdded comment: Multiple individuals reported with variants in this gene and a range of clinical phenotypes consistent with mitochondrial disease. \nSources: Expert list",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:23:24.679882+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-CO2 were changed from Cytochrome c oxidase deficiency to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:22:45.869120+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO2 were set to ",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:22:16.147742+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-CO2: Changed phenotypes: Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:22:02.215082+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-CO2: Added comment: Multiple individuals reported with variants in this gene and a range of neurological and neuromuscular presentations consistent with mitochondrial disease.; Changed publications: 34325999, 30315213, 28521807",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:21:43.939831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO2 as ready",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:21:43.932708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co2 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:21:34.594268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-CO2 as Green List (high evidence)",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:21:34.583071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co2 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:21:19.732770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO2 was added\ngene: MT-CO2 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-CO2.\nMode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL\nPublications for gene: MT-CO2 were set to 37640115; 34325999; 30315213; 28521807\nPhenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related\nReview for gene: MT-CO2 was set to GREEN\nAdded comment: Multiple individuals reported with variants in this gene and a range of neurological and neuromuscular presentations consistent with mitochondrial disease. \nSources: Expert list",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:16:40.921545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO1 as ready",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:16:40.904217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co1 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:16:30.255973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-CO1 as Green List (high evidence)",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:16:30.248389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co1 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:16:18.197809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-CO1.",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:16:00.931491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO1 was added\ngene: MT-CO1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL\nPublications for gene: MT-CO1 were set to 30743023; 39460813; 24956508\nPhenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related\nReview for gene: MT-CO1 was set to GREEN\nAdded comment: Multiple individuals reported with a range of clinical presentations consistent with mitochondrial disease. \nSources: Expert list",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:15:25.711445+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO1 were set to ",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:14:55.499900+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-CO1: Changed publications: 30743023, 39460813, 24956508; Changed phenotypes: Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:06:34.828560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ATP8 as ready",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:06:34.820539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp8 has been classified as Green List (High Evidence).",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:06:19.963438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ATP8 as Green List (high evidence)",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:06:19.952590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp8 has been classified as Green List (High Evidence).",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:06:03.709966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ATP8 was added\ngene: MT-ATP8 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-ATP8.\nMode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL\nPublications for gene: MT-ATP8 were set to 40112238\nPhenotypes for gene: MT-ATP8 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP8-related\nReview for gene: MT-ATP8 was set to GREEN\nAdded comment: Multiple individuals reported with wide spectrum of clinical features including ataxia, motor and language developmental delay, deafness, retinitis pigmentosa, and Leigh pattern in brain MRI. \nSources: Expert list",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:04:06.542909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ATP6 as ready",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:04:06.532074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp6 has been classified as Green List (High Evidence).",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:04:00.559778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ATP6 as Green List (high evidence)",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:04:00.549400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp6 has been classified as Green List (High Evidence).",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:03:49.846657+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-ATP6 were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:03:23.747068+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-ATP6 were set to ",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:02:59.352470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ATP6 was added\ngene: MT-ATP6 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-ATP6.\nMode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL\nPublications for gene: MT-ATP6 were set to 40112238\nPhenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related\nReview for gene: MT-ATP6 was set to GREEN\nAdded comment: Multiple individuals reported with wide spectrum of clinical features including ataxia, motor and language developmental delay, deafness, retinitis pigmentosa, and Leigh pattern in brain MRI. \nSources: Expert list",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:02:32.578644+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ATP6: Added comment: Multiple individuals reported with wide spectrum of clinical features including ataxia, motor and language developmental delay, deafness, retinitis pigmentosa, and Leigh pattern in brain MRI.; Changed publications: 40112238",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T11:00:28.071761+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ATP6: Changed phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T10:54:54.695001+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHA1 as ready",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2025-09-29T10:54:54.684992+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdha1 has been classified as Green List (High Evidence).",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2025-09-29T10:54:51.251566+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2025-09-29T10:54:19.033381+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHA1 were set to ",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2025-09-29T10:53:59.175512+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2025-09-26T19:10:26.616647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRSK2 were changed from Intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092, BRSK2-related",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2025-09-26T19:10:11.302607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRSK2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, BRSK2-related",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2025-09-26T19:09:57.450809+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRSK2 were changed from Intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092, BRSK2-related",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2025-09-25T20:13:56.701374+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NNT as ready",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2025-09-25T20:13:56.690828+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nnt has been classified as Red List (Low Evidence).",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2025-09-25T20:13:48.620525+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NNT was added\ngene: NNT was added to Cardiac conduction disease. Sources: Literature\nMode of inheritance for gene: NNT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NNT were set to 26025024\nPhenotypes for gene: NNT were set to left ventricular noncompaction MONDO:0018901\nReview for gene: NNT was set to RED\nAdded comment: Only a single publication reporting an association with LVNC from 2015. Biallelic variants cause a mitochondrial disease that was first reported in 2012; therefore, more evidence of an association with LVNC would be expected. \nSources: Literature",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2025-09-25T19:56:13.624815+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1008",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NNT as Green List (high evidence)",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2025-09-25T19:56:13.620181+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1008",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Classified as a primary mitochondrial disease by the ClinGen Mitochondrial Diseases GCEP",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2025-09-25T19:56:13.595104+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1008",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nnt has been classified as Green List (High Evidence).",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2025-09-25T15:30:09.428958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.309",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: BRSK2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, BRSK2-related; Mode of inheritance: None",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2025-09-25T14:24:34.200849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) to Congenital anomaly of kidney and urinary tract, MONDO:0019719, BMP7-related; Isolated craniosynostosis, MONDO:0015337, BMP7-related; Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, BMP7-related",
"entity_name": "BMP7",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:57:45.437236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3153",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: BMP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital anomaly of kidney and urinary tract, MONDO:0019719, BMP7-related, Isolated craniosynostosis, MONDO:0015337, BMP7-related, Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, BMP7-related; Mode of inheritance: None",
"entity_name": "BMP7",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:55:34.206669+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UPF1 were changed from Developmental disorders to neurodevelopmental disorder, MONDO:0700092, UPF1-related",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:50:47.828500+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP2U1 as ready",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:50:47.812201+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Green List (High Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:50:35.581129+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP2U1 as Green List (high evidence)",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:50:35.570656+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Green List (High Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:50:27.424112+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP2U1 was added\ngene: CYP2U1 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2U1 were set to 23176821; 26914923; 33107650; 34828401; 38058766; 39605873\nPhenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, OMIM:615030\nReview for gene: CYP2U1 was set to GREEN\nAdded comment: CYP2U1 is known to cause hereditary spastic paraplegia, with a variable spectrum of other symptoms being reported: intellectual disability, dystonia, pseudoxanthoma elasticum, and visual impairments (pigmentary degenerative maculopathy, loss of visual acuity, photophobia). There are at least 8 unrelated individuals with retinal abnormalities with biallelic variants in CYP2U1, harbouring missense, stop-gained, splice-altering, and frameshift variants (PMID: 23176821, 26914923, 33107650, 34828401, 38058766, 39605873). The retinal disease has a variable age of onset (ranging from 6 to 32 years old in reported cases) – sometimes appearing as the first symptom, before spasticity (e.g. PMID:26914923, 39605873).\r\n\r\nFUNCTIONAL EVIDENCE: A Cyp2u1−/− mouse model recapitulated the retinal impairments observed in patients – mice exhibited a late-onset (18 mo) ophthalmologic phenotype characterized by a cone dystrophy (PMID: 34546337 Pujol et al., 2021). Skin fibroblasts of an individual with c.61_73del, p.(Leu21Trpfs∗19) in CYP2U1 showed reduced oxygen consumption compared to controls, as well as structural abnormalities of the mitochondrial membrane (PMID: 23176821 Tesson et al., 2012). Expressing CYP2U1 with missense variants in HEK293T cells demonstrated that most missense variants were functionally inactive, due to loss of proper heme binding or destabilization of the protein structure (PMID: 29034544 Durand et al., 2018). Thus, the proposed disease mechanism is LoF leading to mitochondrial dysfunction - a common driver for degenerative retinal disease. \nSources: Expert Review",
"entity_name": "CYP2U1",
"entity_type": "gene"
}
]
}