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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=160",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=158",
"results": [
{
"created": "2025-10-02T12:50:47.243544+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.151",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: akt1 has been classified as Red List (Low Evidence).",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:50:26.214227+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.150",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:45:43.527702+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.49",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II\tMIM#125853; Hypoinsulinemic hypoglycemia with hemihypertrophy\tMIM#240900 to Hypoinsulinemic hypoglycemia with hemihypertrophy\tMIM#240900",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:43:03.694856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3238",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from AKT2.\nSource Literature was added to AKT2.\nPhenotypes for gene: AKT2 were changed from Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Diabetes mellitus, type II\t, MIM#125853 to Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; AKT2-related familial partial lipodystrophy MONDO:0019192",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:42:40.524458+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from AKT2.\nSource Literature was added to AKT2.\nPhenotypes for gene: AKT2 were changed from Hypoinsulinemic hypoglycemia with hemihypertrophy 240900 to AKT2-related familial partial lipodystrophy MONDO:0019192",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:41:52.176278+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: AKT2-related familial partial lipodystrophy MONDO:0019192; Mode of inheritance: None",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:39:05.433163+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: AKT2 as Green List (high evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:39:05.420448+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Green List (High Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:38:53.544730+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: AKT2 as Green List (high evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:38:53.520455+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Green List (High Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:38:42.155081+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:37:50.239145+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: AKT2 as Red List (low evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:37:50.228441+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Red List (Low Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:37:27.692792+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:30:38.331834+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALG2 as Green List (high evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:30:38.324283+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Green List (High Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:30:29.358172+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12684507, 34980536, 23404334, 30397276, 33644825; Phenotypes: Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:56.255019+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.315",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALG2 as Green List (high evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:56.253479+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.219",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALG2 as Green List (high evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:56.240706+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.315",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Green List (High Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:56.240673+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.219",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Green List (High Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:33.605230+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.315",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALG2 as Green List (high evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:33.594167+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.219",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALG2 as Green List (high evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:33.577059+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.315",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Green List (High Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:33.566384+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.219",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Green List (High Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:26.058028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3237",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALG2 as Green List (high evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:26.041812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3237",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Green List (High Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:25.168878+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.74",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALG2 as Green List (high evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:28:25.159733+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.74",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Green List (High Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:27:56.279180+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.73",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12684507, 34980536, 23404334, 30397276, 33644825; Phenotypes: Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:27:54.250624+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.218",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12684507, 34980536, 23404334, 30397276, 33644825; Phenotypes: Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:27:52.500055+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.314",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12684507, 34980536, 23404334, 30397276, 33644825; Phenotypes: Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:27:50.511948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12684507, 34980536, 23404334, 30397276, 33644825; Phenotypes: Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T11:56:41.968561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RASA2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome MONDO:0018997, RASA2-related; Mode of inheritance: None",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2025-10-02T11:51:08.389555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RAP1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome MONDO:0016512, RAP1A-related; Mode of inheritance: None",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2025-10-02T11:48:26.057092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RAMP2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Open angle glaucoma MONDO:0005338, RAMP2-related; Mode of inheritance: None",
"entity_name": "RAMP2",
"entity_type": "gene"
},
{
"created": "2025-10-02T11:44:12.277486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RALGAPA1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797; Mode of inheritance: None",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T11:42:34.423705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RAG2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Recombinase activating gene 2 deficiency MONDO:0000573; Mode of inheritance: None",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2025-10-02T11:40:40.056308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RAG1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Recombinase activating gene 1 deficiency MONDO:0000572; Mode of inheritance: None",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2025-10-02T11:25:50.738323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RAC1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 48 MIM#617751; Mode of inheritance: None",
"entity_name": "RAC1",
"entity_type": "gene"
},
{
"created": "2025-10-02T11:24:54.888980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RABL2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Infertility disorder, MONDO:0005047, RABL2A-related; Mode of inheritance: None",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2025-10-02T11:13:01.773478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RAB14: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, RAB14-related; Mode of inheritance: None",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2025-10-02T10:24:53.890371+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: ABCB6",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2025-10-01T08:41:01.367653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDP were changed from Exudative vitreoretinopathy 2, X-linked, MIM 305390; Norrie disease, MIM 310600 to Norrie disease MONDO:0010691; Exudative vitreoretinopathy 2, X-linked, MIM 305390; Norrie disease, MIM 310600",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:47:28.901694+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP2S1 as ready",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:47:28.894020+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap2s1 has been classified as Green List (High Evidence).",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:47:22.866897+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP2S1 as Green List (high evidence)",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:47:22.856424+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap2s1 has been classified as Green List (High Evidence).",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:46:48.686595+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP2S1 was added\ngene: AP2S1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AP2S1 were set to 31981491; 33057194; 35982160; 35982159\nPhenotypes for gene: AP2S1 were set to Neurodevelopmental disorder, MONDO:0700092, AP2S1-related\nReview for gene: AP2S1 was set to GREEN\nAdded comment: Several isolated cases with de novo missense variants in large NDD cohorts PMID: 31981491;33057194;35982160;35982159.\r\n\r\n26 unrelated NDD in a preprint with 5 recurring de novo missenses p.Arg10Trp, p.Arg10Gln, p.Lys18Glu, p.Lys18Asn and p.Arg61His https://doi.org/10.1101/2024.07.22.24310683. 70% had epilepsy, 50% brain anomalies. \nSources: Literature",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:42:53.787329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926; Developmental disorder to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926; Neurodevelopmental disorder, MONDO:0700092, AP2S1-related",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:42:33.957247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP2S1 were set to 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 29479578",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:41:49.837768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AP2S1: Added comment: Association with NDD: Several isolated cases with de novo missense variants in large NDD cohorts PMID: 31981491;33057194;35982160;35982159.\r\n\r\n26 unrelated NDD in a preprint with 5 recurring de novo missenses p.Arg10Trp, p.Arg10Gln, p.Lys18Glu, p.Lys18Asn and p.Arg61His https://doi.org/10.1101/2024.07.22.24310683. 70% had epilepsy, 50% brain anomalies.; Changed publications: 23222959, 33729479, 33168530, 3204769, 31723423, 29479578, 31981491, 33057194, 35982160, 35982159; Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926, Neurodevelopmental disorder, MONDO:0700092, AP2S1-related",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:40:00.410605+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP2S1 were changed from Developmental disorder to Neurodevelopmental disorder, MONDO:0700092, AP2S1-related",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:39:08.956512+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP2S1 were set to 33057194",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:37:55.482153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP2S1 as Green List (high evidence)",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:37:55.471226+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap2s1 has been classified as Green List (High Evidence).",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:36:33.413811+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF7 were set to 29961569; 27479843; 28135719; 25363760; 25961944",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:36:04.393351+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAF7 as Green List (high evidence)",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2025-10-01T07:36:04.382084+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf7 has been classified as Green List (High Evidence).",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2025-09-30T19:43:04.666144+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.311",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31981491, 33057194, 35982160, 35982159; Phenotypes: intellectual disability, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2025-09-30T17:14:27.588302+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-09-30T15:14:31.191929+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.213",
"user_name": "Leah Frajman",
"item_type": "entity",
"text": "reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38569228; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM#618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2025-09-30T11:05:44.482040+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPHN as Green List (high evidence)",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2025-09-30T11:05:44.474154+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gphn has been classified as Green List (High Evidence).",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2025-09-30T11:05:18.973864+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22040219, 11095995, 9812897, 34617111; Phenotypes: sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2025-09-30T11:03:16.253875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3232",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GPHN were changed from Molybdenum cofactor deficiency C, MIM# 615501; Epilepsy; Autism; Intellectual disability to sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212; complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2025-09-30T11:02:12.345126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3231",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GPHN were set to 22040219; 11095995; 26613940; 24561070; 23393157; 27604308; 9812897",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2025-09-30T11:01:46.889916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3230",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: GPHN: Added comment: High evidence - AR Molybdenum cofactor deficiency C - PMID: 22040219, 11095995, 9812897, 34617111 - now 3 unrelated families and a mouse model. LoF is the mechanism of disease.\r\n\r\nAmber - AD complex neurodevelopmental disorder - PMID: 26613940, 24561070, 23393157 - de novo missense and de novo/inherited deletions with supporting functional assays. However, incomplete penetrance has been reported for some of the CNVs.; Changed publications: 11095995, 22040219, 9812897, 34617111, 26613940, 24561070, 23393157; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:38:12.908894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-ATP6 were set to 40112238",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:37:54.335442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ATP6: Added comment: DEFINITIVE by ClinGen.; Changed publications: 40112238, 1550128, 8554662, 23206802, 1456751, 9270604, 9501263, 10604142, 17352390, 11245730, 16217706, 11731285, 27812026, 25037980, 19747204, 2137962",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:36:16.204907+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TY were changed from Progressive external ophthalmoplegia; Cardiomyopathy; Myopathy to Mitochondrial disease (MONDO:0044970), MT-TY-related",
"entity_name": "MT-TY",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:35:43.038062+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TY were set to ",
"entity_name": "MT-TY",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:35:11.868716+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TY: Added comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported. Age of onset in affected individuals is variable and clinical features seen include myopathy with or without ophthalmoplegia. There is at least one case report with a more severe phenotype with neuropathy, ataxia, seizures, myoclonus, sensorineural hearing loss, and pigmentary retinopathy. Muscle biopsy in affected individuals has shown COX-negative and ragged red fibers, with variable mitochondrial respiratory chain enzyme deficiencies. The variants in affected individuals are often present at highest heteroplasmy levels in muscle and may be undetectable in other tissues such as blood and buccal tissue. Multiple single fiber studies were performed in these patients and supportive of variant pathogenicity; Changed publications: 11071502, 11756614, 11594340, 33279411, 30643656, 32684384, 32485333, 33279411; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TY-related",
"entity_name": "MT-TY",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:34:30.701909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TY as ready",
"entity_name": "MT-TY",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:34:30.694347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-ty has been classified as Green List (High Evidence).",
"entity_name": "MT-TY",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:34:22.301752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TY as Green List (high evidence)",
"entity_name": "MT-TY",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:34:22.294277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-ty has been classified as Green List (High Evidence).",
"entity_name": "MT-TY",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:34:06.968403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TY was added\ngene: MT-TY was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TY.\nMode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL\nPublications for gene: MT-TY were set to 11071502; 11756614; 11594340; 33279411; 30643656; 32684384; 32485333; 33279411\nPhenotypes for gene: MT-TY were set to Mitochondrial disease (MONDO:0044970), MT-TY-related\nReview for gene: MT-TY was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nMultiple individuals reported. Age of onset in affected individuals is variable and clinical features seen include myopathy with or without ophthalmoplegia. There is at least one case report with a more severe phenotype with neuropathy, ataxia, seizures, myoclonus, sensorineural hearing loss, and pigmentary retinopathy. Muscle biopsy in affected individuals has shown COX-negative and ragged red fibers, with variable mitochondrial respiratory chain enzyme deficiencies. The variants in affected individuals are often present at highest heteroplasmy levels in muscle and may be undetectable in other tissues such as blood and buccal tissue. Multiple single fiber studies were performed in these patients and supportive of variant pathogenicity \nSources: Expert list",
"entity_name": "MT-TY",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:28:21.192418+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TW were changed from Encephalomyopathy to Mitochondrial disease (MONDO:0044970), MT-TW-related",
"entity_name": "MT-TW",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:27:47.981098+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TW were set to ",
"entity_name": "MT-TW",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:27:01.407819+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TW: Added comment: DEFINITIVE by ClinGen.\r\n\r\nAt least 10 individuals reported. Age of onset in affected individuals ranged from childhood to adulthood. Clinical features in affected individuals included LSS, microcephaly, developmental delay and regression, cognitive decline, fatigue, seizures, ataxia, chorea, muscle wasting, axonal neuropathy, diabetes, liver steatosis and fibrosis, constipation, recurrent vomiting, failure to thrive, pigmentary retinopathy, ptosis, optic atrophy, ophthalmoplegia, sensorineural hearing loss, and hypertrophic and dilated cardiomyopathy. Brain imaging was variable and ranged from normal to findings consistent with LSS to generalized atrophy and white matter involvement.\r\n\r\nMuscle biopsies showed ragged red fibers, COX-deficient fibers, and decreased respiratory chain enzyme activities. Metabolic laboratory investigations revealed elevated blood and cerebrospinal fluid lactate. Heteroplasmy levels in affected individuals were highest in muscle and/or liver when multiple tissues were assessed (25 - >95 % in muscle, 1 to >95% in blood, >95% in liver, 1-92% in skin fibroblasts, and 5% in urine when assessed). Functional studies to support variant pathogenicity.; Changed publications: 7695240, 9266739, 9673981, 12776230, 15054399, 18337306, 19809478, 26524491, 23841600, 30937556; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TW-related",
"entity_name": "MT-TW",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:26:26.321548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TW as ready",
"entity_name": "MT-TW",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:26:26.311188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tw has been classified as Green List (High Evidence).",
"entity_name": "MT-TW",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:26:16.534776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TW as Green List (high evidence)",
"entity_name": "MT-TW",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:26:16.526885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tw has been classified as Green List (High Evidence).",
"entity_name": "MT-TW",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:26:01.077405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TW was added\ngene: MT-TW was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TW.\nMode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL\nPublications for gene: MT-TW were set to 7695240; 9266739; 9673981; 12776230; 15054399; 18337306; 19809478; 26524491; 23841600; 30937556\nPhenotypes for gene: MT-TW were set to Mitochondrial disease (MONDO:0044970), MT-TW-related\nReview for gene: MT-TW was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nAt least 10 individuals reported. Age of onset in affected individuals ranged from childhood to adulthood. Clinical features in affected individuals included LSS, microcephaly, developmental delay and regression, cognitive decline, fatigue, seizures, ataxia, chorea, muscle wasting, axonal neuropathy, diabetes, liver steatosis and fibrosis, constipation, recurrent vomiting, failure to thrive, pigmentary retinopathy, ptosis, optic atrophy, ophthalmoplegia, sensorineural hearing loss, and hypertrophic and dilated cardiomyopathy. Brain imaging was variable and ranged from normal to findings consistent with LSS to generalized atrophy and white matter involvement.\r\n\r\nMuscle biopsies showed ragged red fibers, COX-deficient fibers, and decreased respiratory chain enzyme activities. Metabolic laboratory investigations revealed elevated blood and cerebrospinal fluid lactate. Heteroplasmy levels in affected individuals were highest in muscle and/or liver when multiple tissues were assessed (25 - >95 % in muscle, 1 to >95% in blood, >95% in liver, 1-92% in skin fibroblasts, and 5% in urine when assessed). Functional studies to support variant pathogenicity. \nSources: Expert list",
"entity_name": "MT-TW",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:22:35.639244+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TV were changed from Ataxia; Seizures; Deafness to Mitochondrial disease (MONDO:0044970), MT-TV-related",
"entity_name": "MT-TV",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:22:02.988076+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TV were set to ",
"entity_name": "MT-TV",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:21:27.677816+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TV: Changed publications: 9450773, 12056939, 19252805, 15320572, 18314141, 24691472, 39468830",
"entity_name": "MT-TV",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:21:12.969111+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TV: Added comment: DEFINITIVE by ClinGen.\r\n\r\nAt least 8 individuals reported. Age of onset in affected individuals ranged from childhood to adulthood. Clinical features in affected individuals included LSS, cognitive decline, fatigue, migraines, seizures, myoclonic jerks, ataxia, dystonia, dysarthria, imbalance, muscle weakness, axonal sensorimotor polyneuropathy, diabetes, gastrointestinal dysmotility, cataracts, retinitis pigmentosa, sensorineural hearing loss, and hypertrophic cardiomyopathy. Brain imaging was variable and ranged from normal to findings consistent with LSS, cerebellar and cerebral atrophy, brainstem atrophy, and basal ganglia calcifications. Muscle biopsies showed ragged red fibers, COX-deficient fibers, and normal to decreased respiratory chain enzyme activities. Metabolic laboratory investigations revealed elevated lactate.\r\n\r\nHeteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (67% to homoplasmic in muscle, 70% to homoplasmic in blood, and homoplasmic in skin fibroblasts).; Changed publications: 9450773, 12056939, 19252805, 15320572, 18314141, 24691472; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TV-related",
"entity_name": "MT-TV",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:20:56.961211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TV as ready",
"entity_name": "MT-TV",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:20:56.953487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tv has been classified as Green List (High Evidence).",
"entity_name": "MT-TV",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:20:26.435130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TV as Green List (high evidence)",
"entity_name": "MT-TV",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:20:26.423175+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tv has been classified as Green List (High Evidence).",
"entity_name": "MT-TV",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:20:10.916646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TV was added\ngene: MT-TV was added to Mendeliome. Sources: Expert list\nmtDNA tags were added to gene: MT-TV.\nMode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL\nPublications for gene: MT-TV were set to 9450773; 12056939; 19252805; 15320572; 18314141; 24691472\nPhenotypes for gene: MT-TV were set to Mitochondrial disease (MONDO:0044970), MT-TV-related\nReview for gene: MT-TV was set to GREEN\nAdded comment: DEFINITIVE by ClinGen.\r\n\r\nAt least 8 individuals reported. Age of onset in affected individuals ranged from childhood to adulthood. Clinical features in affected individuals included LSS, cognitive decline, fatigue, migraines, seizures, myoclonic jerks, ataxia, dystonia, dysarthria, imbalance, muscle weakness, axonal sensorimotor polyneuropathy, diabetes, gastrointestinal dysmotility, cataracts, retinitis pigmentosa, sensorineural hearing loss, and hypertrophic cardiomyopathy. Brain imaging was variable and ranged from normal to findings consistent with LSS, cerebellar and cerebral atrophy, brainstem atrophy, and basal ganglia calcifications. Muscle biopsies showed ragged red fibers, COX-deficient fibers, and normal to decreased respiratory chain enzyme activities. Metabolic laboratory investigations revealed elevated lactate.\r\n\r\nHeteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (67% to homoplasmic in muscle, 70% to homoplasmic in blood, and homoplasmic in skin fibroblasts). \nSources: Expert list",
"entity_name": "MT-TV",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:11:02.855297+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-TT were set to ",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:10:22.932175+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1070",
"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": "2025-09-29T18:10:22.924535+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1070",
"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": "2025-09-29T18:09:51.491173+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-TT: Added 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.; Changed rating: GREEN; Changed publications: 32083134, 8769114, 9367299, 1645537, 8511015, 22638997, 29760464, 30236074, 28187756, 35808913; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TT-related",
"entity_name": "MT-TT",
"entity_type": "gene"
},
{
"created": "2025-09-29T18:09:34.806961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TT as ready",
"entity_name": "MT-TT",
"entity_type": "gene"
}
]
}