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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=161",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=159",
"results": [
{
"created": "2025-09-29T18:09:34.796682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tt has been classified as Green List (High Evidence).",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:08:44.753271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TT as Green List (high evidence)",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:08:44.743032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tt has been classified as Green List (High Evidence).",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:08:26.124259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TT was added\ngene: MT-TT was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TT.\nMode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL\nPublications for gene: MT-TT were set to 32083134; 8769114; 9367299; 1645537; 8511015; 22638997; 29760464; 30236074; 28187756; 35808913\nPhenotypes for gene: MT-TT were set to Mitochondrial disease (MONDO:0044970), MT-TT-related\nReview for gene: MT-TT was set to GREEN\nAdded comment: MODERATE by ClinGen.\r\n\r\nAt least 10 probands reported with 5 unique variants. Age of onset in affected individuals varied from the neonatal period to more than 50 years. Clinical features in affected individuals included neonatal lactic acidosis; myoclonic epilepsy and ragged red fibers (MERRF); Leber Hereditary Optic Neuropathy (LHON); myopathy, seizures, migraines, pigmentary retinopathy, hearing loss, and diabetes. Brain imaging findings were variable. Muscle biopsies showed ragged red fibers and COX-deficient fibers. Lab investigations showed elevated lactate. Heteroplasmy levels were highest in muscle when multiple tissues were assessed, and ranged from 33% to homoplasmy in muscle. \nSources: Expert list",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:03:39.326536+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TS2 were changed from MERRF; MELAS; Cerebellar ataxia to Mitochondrial disease (MONDO:0044970), MT-TS2-related",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:03:06.930513+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TS2 were set to ",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:02:36.862710+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TS2: Added comment: MODERATE by ClinGen.\r\n\r\nAt least 7 individuals reported. Affected individuals had varying clinical features including cataracts, retinal dystrophy, hearing loss, myopathy, ataxia, seizures, global developmental delay, diabetes, Wolff-Parkinson-White arrhythmia, hypertrophic cardiomyopathy, and hypogonadotropic hypogonadism. Lab investigations revealed elevated blood lactate and elevated creatine kinase. Muscle biopsy, when performed, generally showed reduced activities of complexes I, I+III, III, and/or IV. Brain imaging was normal in some cases. In one individual brain imaging revealed changes in the basal ganglia and diffuse atrophy with an enlarged cisterna magna and in another showed changes in the cerebral white matter.\r\n\r\nHeteroplasmy levels were variable – some individuals had the highest levels in muscle with the variant being undetectable in other tissues while others had the variant present at homoplasmy in multiple tissues. Northern blotting and single fiber testing further supported variant pathogenicity.; Changed publications: 9792552, 10090882, 16950817, 21257182, 22369973, 22378285; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TS2-related",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:02:00.891390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TS2 as ready",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:02:00.881125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-ts2 has been classified as Green List (High Evidence).",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:01:51.651634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TS2 as Green List (high evidence)",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:01:51.641992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-ts2 has been classified as Green List (High Evidence).",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:01:34.419580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TS2.\nMode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL\nPublications for gene: MT-TS2 were set to 9792552; 10090882; 16950817; 21257182; 22369973; 22378285\nPhenotypes for gene: MT-TS2 were set to Mitochondrial disease (MONDO:0044970), MT-TS2-related\nReview for gene: MT-TS2 was set to GREEN\nAdded comment: MODERATE by ClinGen.\r\n\r\nAt least 7 individuals reported. Affected individuals had varying clinical features including cataracts, retinal dystrophy, hearing loss, myopathy, ataxia, seizures, global developmental delay, diabetes, Wolff-Parkinson-White arrhythmia, hypertrophic cardiomyopathy, and hypogonadotropic hypogonadism. Lab investigations revealed elevated blood lactate and elevated creatine kinase. Muscle biopsy, when performed, generally showed reduced activities of complexes I, I+III, III, and/or IV. Brain imaging was normal in some cases. In one individual brain imaging revealed changes in the basal ganglia and diffuse atrophy with an enlarged cisterna magna and in another showed changes in the cerebral white matter.\r\n\r\nHeteroplasmy levels were variable – some individuals had the highest levels in muscle with the variant being undetectable in other tissues while others had the variant present at homoplasmy in multiple tissues. Northern blotting and single fiber testing further supported variant pathogenicity. \nSources: Expert list",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:58:23.893706+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TS1 were changed from MERRF; MELAS; Deafness to Mitochondrial disease (MONDO:0044970), MT-TS1-related",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:57:54.988757+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TS1 were set to ",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:57:19.554846+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TS1: Added comment: DEFINITIVE by ClinGen.\r\n\r\nAt least 8 individuals reported. Clinical features seen in affected individuals range from isolated hearing loss to mitochondrial myopathy to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and myoclonus epilepsy, ragged red fibers (MERRF). One case of fatal neonatal lactic acidosis has been reported. Intrafamilial variability has been observed.\r\n\r\nMuscle biopsy often shows COX-negative fibers and/or ragged red fibers. A combined mitochondrial chain respiratory deficiency (commonly involving complexes I and IV) may also be observed in muscle biopsies. Heteroplasmy levels in affected individuals are often near homoplasmy in muscle and lower in tissues such as blood and urine, although homoplasmy across multiple tissues has also been seen. One individual had mitochondrial myopathy with heteroplasmy levels as low as 37% heteroplasmy in muscle.\r\n\r\nMultiple single fiber studies and cybrid analyses were performed in these patients and are supportive of variant pathogenicity.; Changed publications: 7669057, 9778262, 14605505, 23696415, 33279600, 7581383; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TS1-related",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:57:03.154009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TS1 as ready",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:57:03.143286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-ts1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:56:38.501096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TS1 as Green List (high evidence)",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:56:38.490838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-ts1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:56:21.620250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS1 was added\ngene: MT-TS1 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TS1.\nMode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL\nPublications for gene: MT-TS1 were set to 7669057; 9778262; 14605505; 23696415; 33279600; 7581383\nPhenotypes for gene: MT-TS1 were set to Mitochondrial disease (MONDO:0044970), MT-TS1-related\nReview for gene: MT-TS1 was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nAt least 8 individuals reported. Clinical features seen in affected individuals range from isolated hearing loss to mitochondrial myopathy to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and myoclonus epilepsy, ragged red fibers (MERRF). One case of fatal neonatal lactic acidosis has been reported. Intrafamilial variability has been observed.\r\n\r\nMuscle biopsy often shows COX-negative fibers and/or ragged red fibers. A combined mitochondrial chain respiratory deficiency (commonly involving complexes I and IV) may also be observed in muscle biopsies. Heteroplasmy levels in affected individuals are often near homoplasmy in muscle and lower in tissues such as blood and urine, although homoplasmy across multiple tissues has also been seen. One individual had mitochondrial myopathy with heteroplasmy levels as low as 37% heteroplasmy in muscle.\r\n\r\nMultiple single fiber studies and cybrid analyses were performed in these patients and are supportive of variant pathogenicity. \nSources: Expert list",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:51:58.346554+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TR were changed from Encephalomyopathy to mitochondrial disease (MONDO:0044970), MT-TR-related",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:51:30.187932+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TR were set to ",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:50:46.770705+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TR: Added comment: MODERATE by ClinGen.\r\n\r\nAt least 4 individuals reported. Cybrid studies and single fiber testing further supported the pathogenicity of several of the reported variants. Age of onset was in childhood and features seen in affected individuals included muscle weakness, ataxia, hypotonia, epilepsy, global developmental delay and regression, pigmentary retinopathy, optic atrophy, renal insufficiency, and hypertrophic cardiomyopathy. Muscle biopsies showed ragged red fibers and COX-negative fibers and variable respiratory chain enzyme deficiencies.; Changed publications: 15286228, 17588757, 19809478, 22781096; Changed phenotypes: mitochondrial disease (MONDO:0044970), MT-TR-related",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:50:19.949603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TR as ready",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:50:19.942410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tr has been classified as Green List (High Evidence).",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:50:02.046163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TR as Green List (high evidence)",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:50:02.034600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tr has been classified as Green List (High Evidence).",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:49:43.739415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TR was added\ngene: MT-TR was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TR.\nMode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL\nPublications for gene: MT-TR were set to 15286228; 17588757; 19809478; 22781096\nPhenotypes for gene: MT-TR were set to mitochondrial disease (MONDO:0044970), MT-TR-related\nReview for gene: MT-TR was set to GREEN\nAdded comment: MODERATE by ClinGen.\r\n\r\nAt least 4 individuals reported. Cybrid studies and single fiber testing further supported the pathogenicity of several of the reported variants. Age of onset was in childhood and features seen in affected individuals included muscle weakness, ataxia, hypotonia, epilepsy, global developmental delay and regression, pigmentary retinopathy, optic atrophy, renal insufficiency, and hypertrophic cardiomyopathy. Muscle biopsies showed ragged red fibers and COX-negative fibers and variable respiratory chain enzyme deficiencies. \nSources: Expert list",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:47:03.954337+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TQ were changed from MELAS; deafness; mitochondrial myopathy to Mitochondrial disease (MONDO:0044970), MT-TQ-related",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:46:34.700858+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TQ were set to ",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:46:06.515671+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TQ as Amber List (moderate evidence)",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:46:06.507363+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tq has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:45:32.707623+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TQ: Added comment: LIMITED by ClinGen.\r\n\r\nThree unique variants (m.4332G>A, m.4369_4370insA, m.4381A>G) reported in three probands across 3 publications. Single fiber testing further supported the pathogenicity of several of these variants. Age of onset in affected individuals was five years old, teens, and 20 years old. Clinical features in affected individuals included stroke-like episodes, hearing loss, myopathy, and Leber Hereditary Optic Neuropathy (LHON). Brain imaging was variable. Muscle biopsies showed ragged red fibers and COX-negative fibers. Metabolic screening investigations were only reported in one individual and showed high cerebrospinal fluid (CSF) lactate with normal blood lactate. Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (61-87% in muscle).; Changed rating: AMBER; Changed publications: 11171912, 10996779, 17003408, 11335700; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TQ-related",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:45:16.152643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TQ were changed from to Mitochondrial disease (MONDO:0044970), MT-TQ-related",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:44:55.943385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TQ: Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TQ-related",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:44:20.962801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TQ as Amber List (moderate evidence)",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:44:20.952630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tq has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:42:35.938557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TQ was added\ngene: MT-TQ was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TQ.\nMode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL\nPublications for gene: MT-TQ were set to 11171912; 10996779; 17003408; 11335700\nReview for gene: MT-TQ was set to AMBER\nAdded comment: LIMITED by ClinGen.\r\n\r\nThree unique variants (m.4332G>A, m.4369_4370insA, m.4381A>G) reported in three probands across 3 publications. Single fiber testing further supported the pathogenicity of several of these variants. Age of onset in affected individuals was five years old, teens, and 20 years old. Clinical features in affected individuals included stroke-like episodes, hearing loss, myopathy, and Leber Hereditary Optic Neuropathy (LHON). Brain imaging was variable. Muscle biopsies showed ragged red fibers and COX-negative fibers. Metabolic screening investigations were only reported in one individual and showed high cerebrospinal fluid (CSF) lactate with normal blood lactate. Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (61-87% in muscle). \nSources: Expert list",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:39:24.777086+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TP were changed from MERRF; myopathy to Mitochondrial disease (MONDO:0044970), MT-TP-related",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:38:36.453629+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TP were set to ",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:37:57.829984+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TP: Added comment: DEFINITIVE by ClinGen.\r\n\r\nAt least 9 individuals reported. Age of onset of affected individual is variable. Clinical features reported include myopathy, chronic progressive external ophthalmoplegia (CPEO), retinal dystrophy, and lactic acidosis. Muscle biopsy often shows classic findings of mitochondrial myopathy with COX-negative and ragged red fibers. Respiratory chain enzyme deficiencies may also be observed in muscle biopsies. The pathogenic variants were present at high levels of heteroplasmy in muscle tissue and, frequently, other tissues such as blood, saliva, buccal samples, urine, and fibroblasts harbored the variant at substantially lower heteroplasmy levels, including being undetectable. Affected individuals have been reported with heteroplasmy levels as low as 25-40% in muscle tissue. Single fiber studies were performed in several probands further supporting variant pathogenicity.; Changed publications: 7689388, 11196116, 19223931, 23696415, 19273760, 27536729, 27816331, 32305257, 32419253; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TP-related",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:37:40.197247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TP were changed from to Mitochondrial disease (MONDO:0044970), MT-TP-related",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:37:26.032507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TP were set to ",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:37:12.549946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-TP.",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:37:03.036245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TP as Green List (high evidence)",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:37:03.029066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tp has been classified as Green List (High Evidence).",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:36:45.785036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MT-TP: Rating: GREEN; Mode of pathogenicity: None; Publications: 7689388, 11196116, 19223931, 23696415, 19273760, 27536729, 27816331, 32305257, 32419253; Phenotypes: Mitochondrial disease (MONDO:0044970), MT-TP-related; Mode of inheritance: MITOCHONDRIAL",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:33:25.853931+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TM were changed from mitochondrial disease (MONDO:0044970), MT-TM-related to mitochondrial disease (MONDO:0044970), MT-TM-related",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:33:08.497281+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TM were changed from mitochondrial disease (MONDO:0044970), MT-TM-related to mitochondrial disease (MONDO:0044970), MT-TM-related",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:32:48.925066+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TM were changed from Mitochondrial myopathy to mitochondrial disease (MONDO:0044970), MT-TM-related",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:32:29.589931+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TM were set to ",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:31:53.653506+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TM: Added comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported. The condition was first described in a 10-year-old girl with exercise intolerance, myopathy, and short stature with mildly elevated serum lactate. Subsequent publications have shown a consistent phenotype involving a mitochondrial myopathy (typically childhood onset) with elevated lactate. Chronic external progressive ophthalmoplegia (CPEO) is not common but has been reported. Basal ganglia lesions and Leigh syndrome spectrum/mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) overlap have also been reported in one patient. Retinitis pigmentosa has also been reported. Muscle biopsy often shows classic findings of mitochondrial myopathy with COX-negative and ragged red (or blue) fibers. Combined OXPHOS deficiencies in muscle are also observed.; Changed publications: 9633749, 24711008, 25468263, 30739820, 11335700, 31488384, 31022467, 29174468; Changed phenotypes: mitochondrial disease (MONDO:0044970), MT-TM-related",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:31:09.570362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TM as ready",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:31:09.554970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tm has been classified as Green List (High Evidence).",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:31:00.938868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TM as Green List (high evidence)",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:31:00.931715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tm has been classified as Green List (High Evidence).",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:30:45.755727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TM was added\ngene: MT-TM was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TM.\nMode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL\nPublications for gene: MT-TM were set to 9633749; 24711008; 25468263; 30739820; 11335700; 31488384; 31022467; 29174468\nPhenotypes for gene: MT-TM were set to mitochondrial disease (MONDO:0044970), MT-TM-related\nReview for gene: MT-TM was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported. The condition was first described in a 10-year-old girl with exercise intolerance, myopathy, and short stature with mildly elevated serum lactate. Subsequent publications have shown a consistent phenotype involving a mitochondrial myopathy (typically childhood onset) with elevated lactate. Chronic external progressive ophthalmoplegia (CPEO) is not common but has been reported. Basal ganglia lesions and Leigh syndrome spectrum/mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) overlap have also been reported in one patient. Retinitis pigmentosa has also been reported. Muscle biopsy often shows classic findings of mitochondrial myopathy with COX-negative and ragged red (or blue) fibers. Combined OXPHOS deficiencies in muscle are also observed. \nSources: Expert list",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:27:04.991109+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TL2 were set to ",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:26:38.060504+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TL2 were changed from Myopathy; Cardiomyopathy; Encephalomyopathy to Mitochondrial disease (MONDO:0044970), MT-TL2-related",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:25:52.872794+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TL2: Added comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported with a range of clinical phenotypes, including CPEO, retinopathy, hearing loss, myopathy, exercise intolerance, and peripheral neuropathy. There is a substantial amount of functional evidence for the reported variants, including numerous single fiber studies, and respiratory chain analyses showing clear evidence of OXPHOS defects; Changed publications: 8923013, 12398839, 19718780, 18977334, 21819490, 15649400, 15591266, 23847141, 20022607, 29052516; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TL2-related",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:25:37.269244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TL2 as ready",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:25:37.258659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tl2 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:25:11.849463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TL2 as Green List (high evidence)",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:25:11.839387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tl2 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:24:56.398185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TL2 was added\ngene: MT-TL2 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TL2.\nMode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL\nPublications for gene: MT-TL2 were set to 8923013; 12398839; 19718780; 18977334; 21819490; 15649400; 15591266; 23847141; 20022607; 29052516\nPhenotypes for gene: MT-TL2 were set to Mitochondrial disease (MONDO:0044970), MT-TL2-related\nReview for gene: MT-TL2 was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported with a range of clinical phenotypes, including CPEO, retinopathy, hearing loss, myopathy, exercise intolerance, and peripheral neuropathy. There is a substantial amount of functional evidence for the reported variants, including numerous single fiber studies, and respiratory chain analyses showing clear evidence of OXPHOS defects \nSources: Expert list",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:00:41.668640+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TL1 were changed from MELAS to Mitochondrial disease (MONDO:0044970), MT-TL1-related",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2025-09-29T17:00:17.217390+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TL1 were set to ",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:59:46.667604+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TL1: Added comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported with a range of clinical presentations, including MELAS, myoclonus epilepsy, ragged red fibers (MERRF), Leigh syndrome spectrum, progressive external ophthalmoplegia (PEO), and maternally inherited deafness and diabetes (MIDD), as well as myopathy, hypertrophic cardiomyopathy, and renal disease. At least 7 unique variants reported with a substantial amount of functional evidence, including numerous cybrid analyses, single fiber studies, and respiratory chain analyses showing clear evidence of OXPHOS defects.; Changed publications: 9323566, 12221518, 20471262, 23220830, 23273904, 24338029, 23582502, 11271374, 23258140; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TL1-related",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:59:04.246036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TL1 as ready",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:59:04.235279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tl1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:58:54.092875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TL1 as Green List (high evidence)",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:58:54.082497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tl1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:58:34.176502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TL1 was added\ngene: MT-TL1 was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TL1.\nMode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL\nPublications for gene: MT-TL1 were set to 9323566; 12221518; 20471262; 23220830; 23273904; 24338029; 23582502; 11271374; 23258140\nPhenotypes for gene: MT-TL1 were set to Mitochondrial disease (MONDO:0044970), MT-TL1-related\nReview for gene: MT-TL1 was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported with a range of clinical presentations, including MELAS, myoclonus epilepsy, ragged red fibers (MERRF), Leigh syndrome spectrum, progressive external ophthalmoplegia (PEO), and maternally inherited deafness and diabetes (MIDD), as well as myopathy, hypertrophic cardiomyopathy, and renal disease. At least 7 unique variants reported with a substantial amount of functional evidence, including numerous cybrid analyses, single fiber studies, and respiratory chain analyses showing clear evidence of OXPHOS defects. \nSources: Expert list",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:53:18.135633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TK: Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TK-related",
"entity_name": "MT-TK",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:52:54.708045+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TK: Added comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported with wide spectrum of clinical presentations including MERRF, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh syndrome spectrum, and mitochondrial neurogastrointestinal encephalopathy (MNGIE), as well as lipomas, myopathy, hypertrophic cardiomyopathy, hearing loss, diabetes, and episodic ataxia. Variant pathogenicity is supported by cybrid analyses, single fiber studies, and respiratory chain studies showing clear evidence of OXPHOS defects.; Changed publications: 9380435, 19618438, 17410322, 25559684, 1361099, 10868777, 35821181, 36675808; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TK-related",
"entity_name": "MT-TK",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:52:35.357005+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TK were changed from Mitochondrial disease (MONDO:0044970), MT-TK-relatednd to Mitochondrial disease (MONDO:0044970), MT-TK-related",
"entity_name": "MT-TK",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:52:10.527562+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TK as ready",
"entity_name": "MT-TK",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:52:10.520869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tk has been classified as Green List (High Evidence).",
"entity_name": "MT-TK",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:52:02.944014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TK as Green List (high evidence)",
"entity_name": "MT-TK",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:52:02.933828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tk has been classified as Green List (High Evidence).",
"entity_name": "MT-TK",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:51:48.815704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TK was added\ngene: MT-TK was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TK.\nMode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL\nPublications for gene: MT-TK were set to 9380435; 19618438; 17410322; 25559684; 1361099; 10868777; 35821181; 36675808\nPhenotypes for gene: MT-TK were set to Mitochondrial disease (MONDO:0044970), MT-TK-relatednd\nReview for gene: MT-TK was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported with wide spectrum of clinical presentations including MERRF, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh syndrome spectrum, and mitochondrial neurogastrointestinal encephalopathy (MNGIE), as well as lipomas, myopathy, hypertrophic cardiomyopathy, hearing loss, diabetes, and episodic ataxia. Variant pathogenicity is supported by cybrid analyses, single fiber studies, and respiratory chain studies showing clear evidence of OXPHOS defects. \nSources: Expert list",
"entity_name": "MT-TK",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:41:32.063338+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TI were changed from Mitochondrial myopathy; Encephalopathy to Mitochondrial disease (MONDO:0044970), MT-TI-related",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:38:34.644489+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TI were set to ",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:38:04.162267+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TI: Added comment: DEFINITIVE by ClinGen.\r\n\r\nMore than 10 individuals reported. Clinical presentations included LSS, myoclonic epilepsy with ragged red fibers (MERRF) and chronic progressive external ophthalmoplegia (CPEO), in addition to rhabdomyolysis, cardiomyopathy, encephalopathy, exercise intolerance, muscle weakness, hypertension2, hypercholesterolaemia, and hypomagnesaemia. Heteroplasmy levels of MT-TI can be variable in tissues from the same individual. In general, variants tend to be lower in tissues such as blood, saliva, and buccal swab and urine and muscle heteroplasmy levels tend to be higher.; Changed publications: 15121771, 21982779, 23395828, 16120360, 9473477, 12767666, 10065021, 7646516, 20884012, 21292040, 1632786, 23696415, 34607911; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TI-related",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:37:48.638281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TI as ready",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:37:48.628144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-ti has been classified as Green List (High Evidence).",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:37:24.293824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TI as Green List (high evidence)",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:37:24.282131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-ti has been classified as Green List (High Evidence).",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:37:10.858174+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TI was added\ngene: MT-TI was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TI.\nMode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL\nPublications for gene: MT-TI were set to 15121771; 21982779; 23395828; 16120360; 9473477; 12767666; 10065021; 7646516; 20884012; 21292040; 1632786; 23696415; 34607911\nPhenotypes for gene: MT-TI were set to Mitochondrial disease (MONDO:0044970), MT-TI-related\nReview for gene: MT-TI was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nMore than 10 individuals reported. Clinical presentations included LSS, myoclonic epilepsy with ragged red fibers (MERRF) and chronic progressive external ophthalmoplegia (CPEO), in addition to rhabdomyolysis, cardiomyopathy, encephalopathy, exercise intolerance, muscle weakness, hypertension2, hypercholesterolaemia, and hypomagnesaemia. Heteroplasmy levels of MT-TI can be variable in tissues from the same individual. In general, variants tend to be lower in tissues such as blood, saliva, and buccal swab and urine and muscle heteroplasmy levels tend to be higher. \nSources: Expert list",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:34:09.279795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3197",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NEK9: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: NEK9-related lethal skeletal dysplasia MONDO:0014870; Mode of inheritance: None",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:32:34.589168+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TH were changed from Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF to Mitochondrial disease (MONDO:0044970), MT-TH-related",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:32:03.550378+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TH were set to ",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:31:28.477139+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TH: Added comment: DEFINITIVE by ClinGen.\r\n\r\nMore than 5 individuals reported. Age of onset in affected individuals varied from adolescence to the 40s. Clinical features included stroke-like episodes, seizures, myoclonus, ataxia, optic atrophy, retinal dystrophy, cataracts, hearing loss, hypogonadism, and mood disorder. Cerebellar vermis hypoplasia and signal changes in the basal ganglia, dentate nuclei, temporal lobes, and occipital lobes were seen on brain imaging.\r\n\r\nTissue biopsies identified ragged red fibers and COX-negative fibers. Laboratory investigations showed increased blood and cerebrospinal fluid lactate. Decreased activities of complexes I and IV were variably seen in muscle. Heteroplasmy levels of the variants in affected individuals ranged from 81% to homoplasmic in muscle, 33-87% in urine, 1-60% in blood, and undetectable to homoplasmic in fibroblasts. Single fiber testing, cybrid analysis, and Northern blot analysis further supported variant pathogenicity.\r\n\r\nThis gene-disease relationship is also supported by known biochemical function and functional alteration in patient and non-patient cells (in vitro functional assays demonstrated reduced rates of mitochondrial translation as a result of variants in MT-TH; PMID: 24920829, 21704194).; Changed publications: 12682337, 14967777, 15111688, 21704194, 21931169, 23696415, 35092007, 24920829, 21704194; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TH-related",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:30:56.632555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TH as ready",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:30:56.621207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-th has been classified as Green List (High Evidence).",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:30:38.004132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TH as Green List (high evidence)",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:30:37.997128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-th has been classified as Green List (High Evidence).",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:30:22.836949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TH was added\ngene: MT-TH was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TH.\nMode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL\nPublications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194\nPhenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related\nReview for gene: MT-TH was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nMore than 5 individuals reported. Age of onset in affected individuals varied from adolescence to the 40s. Clinical features included stroke-like episodes, seizures, myoclonus, ataxia, optic atrophy, retinal dystrophy, cataracts, hearing loss, hypogonadism, and mood disorder. Cerebellar vermis hypoplasia and signal changes in the basal ganglia, dentate nuclei, temporal lobes, and occipital lobes were seen on brain imaging.\r\n\r\nTissue biopsies identified ragged red fibers and COX-negative fibers. Laboratory investigations showed increased blood and cerebrospinal fluid lactate. Decreased activities of complexes I and IV were variably seen in muscle. Heteroplasmy levels of the variants in affected individuals ranged from 81% to homoplasmic in muscle, 33-87% in urine, 1-60% in blood, and undetectable to homoplasmic in fibroblasts. Single fiber testing, cybrid analysis, and Northern blot analysis further supported variant pathogenicity.\r\n\r\nThis gene-disease relationship is also supported by known biochemical function and functional alteration in patient and non-patient cells (in vitro functional assays demonstrated reduced rates of mitochondrial translation as a result of variants in MT-TH; PMID: 24920829, 21704194). \nSources: Expert list",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:27:12.860784+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TG were changed from Cardiomyopathy to Mitochondrial disease (MONDO:0044970), MT-TG-related",
"entity_name": "MT-TG",
"entity_type": "gene"
},
{
"created": "2025-09-29T16:26:44.132227+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TG were set to ",
"entity_name": "MT-TG",
"entity_type": "gene"
}
]
}