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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=6",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=4",
"results": [
{
"created": "2026-03-31T18:24:11.202706+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.401",
"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": "2026-03-31T18:23:59.644321+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TS2 as ready",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:23:59.633721+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "1.2",
"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": "2026-03-31T18:20:03.280194+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T18:20:03.078698+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Syndromic Retinopathy. Sources: Expert Review Green,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",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:20:00.470590+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T18:20:00.240206+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Monogenic Diabetes. Sources: Expert Review Green,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",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:19:57.222008+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.732",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T18:19:56.864214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,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",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:19:15.495811+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T18:19:15.424366+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,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",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:19:15.220585+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T18:19:14.924453+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Genetic Epilepsy. Sources: Expert Review Green,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",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:18:23.671046+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T18:18:23.494992+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,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",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:17:44.615670+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T18:17:44.336374+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Cataract. Sources: Expert Review Green,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",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:17:07.811618+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T18:17:07.721858+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,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",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:17:07.295449+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T18:17:06.314469+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Ataxia. Sources: Expert Review Green,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",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:15:06.621888+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TS1 as ready",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:15:06.612658+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.48",
"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": "2026-03-31T18:14:54.031344+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TS1 as ready",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:14:54.024207+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.43",
"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": "2026-03-31T18:14:38.545292+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TS1 as ready",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:14:38.535793+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.731",
"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": "2026-03-31T18:14:26.343617+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TS1 as ready",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:14:26.336854+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.351",
"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": "2026-03-31T18:14:12.764904+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TS1 as ready",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T18:14:12.753054+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.400",
"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": "2026-03-31T17:20:59.251108+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:20:59.196504+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS1 was added\ngene: MT-TS1 was added to Stroke. Sources: Expert Review Green,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",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:20:58.991719+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:20:58.811155+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS1 was added\ngene: MT-TS1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,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",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:20:41.476558+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.731",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:20:41.028769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS1 was added\ngene: MT-TS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,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",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:19:58.508403+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.400",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:19:58.169527+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS1 was added\ngene: MT-TS1 was added to Genetic Epilepsy. Sources: Expert Review Green,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",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:19:06.752815+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TS1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:19:06.575983+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TS1 was added\ngene: MT-TS1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,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",
"entity_name": "MT-TS1",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:17:07.725599+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TR as ready",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:17:07.718424+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.730",
"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": "2026-03-31T17:16:55.053690+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TR as ready",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:16:55.043834+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.399",
"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": "2026-03-31T17:16:43.763350+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TR as ready",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:16:43.756292+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.70",
"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": "2026-03-31T17:16:04.924132+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TR from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:16:04.841853+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TR was added\ngene: MT-TR was added to Syndromic Retinopathy. Sources: Expert Review Green,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",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:16:03.409318+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TR from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:16:03.223023+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TR was added\ngene: MT-TR was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,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",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:15:46.037417+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TR from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:15:45.838892+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TR was added\ngene: MT-TR was added to Optic Atrophy. Sources: Expert Review Green,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",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:15:04.217783+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TR from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:15:03.846344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TR was added\ngene: MT-TR was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,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",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:14:22.512165+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.399",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TR from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:14:22.220522+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TR was added\ngene: MT-TR was added to Genetic Epilepsy. Sources: Expert Review Green,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",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:13:31.801699+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TR from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:13:31.728809+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TR was added\ngene: MT-TR was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,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",
"entity_name": "MT-TR",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:11:21.733793+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TQ as ready",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:11:21.717072+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.47",
"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": "2026-03-31T17:11:03.562049+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TQ as ready",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:11:03.550781+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.41",
"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": "2026-03-31T17:10:49.892402+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TQ as ready",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:10:49.881458+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.69",
"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": "2026-03-31T17:10:17.575325+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TQ from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:10:17.503851+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TQ was added\ngene: MT-TQ was added to Stroke. Sources: Expert Review Amber,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\nPhenotypes for gene: MT-TQ were set to Mitochondrial disease (MONDO:0044970), MT-TQ-related",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:10:17.308840+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TQ from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:10:17.145063+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TQ was added\ngene: MT-TQ was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Amber,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\nPhenotypes for gene: MT-TQ were set to Mitochondrial disease (MONDO:0044970), MT-TQ-related",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:10:03.370734+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TQ from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:10:03.087044+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TQ was added\ngene: MT-TQ was added to Optic Atrophy. Sources: Expert Review Amber,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\nPhenotypes for gene: MT-TQ were set to Mitochondrial disease (MONDO:0044970), MT-TQ-related",
"entity_name": "MT-TQ",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:07:32.238413+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TL2 as ready",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:07:32.228591+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.40",
"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": "2026-03-31T17:07:18.283292+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TL2 as ready",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:07:18.276296+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.187",
"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": "2026-03-31T17:07:07.475520+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TL2 as ready",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:07:07.463510+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.350",
"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": "2026-03-31T17:06:55.208645+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TL2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:06:55.045759+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TL2 was added\ngene: MT-TL2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,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",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:06:40.442737+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TL2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:06:40.241069+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TL2 was added\ngene: MT-TL2 was added to Hereditary Neuropathy. Sources: Expert Review Green,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",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:06:24.011250+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TL2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:06:23.834424+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TL2 was added\ngene: MT-TL2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,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",
"entity_name": "MT-TL2",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:03:03.992931+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TM as ready",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2026-03-31T17:03:03.986092+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.39",
"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": "2026-03-31T17:02:43.615549+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TM from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T17:02:43.450395+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TM was added\ngene: MT-TM was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,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",
"entity_name": "MT-TM",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:59:06.729899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4682",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SLC26A5: Rating: AMBER; Mode of pathogenicity: None; Publications: 38431907, 38843436; Phenotypes: Deafness, autosomal recessive 61, MIM# 613865; Mode of inheritance: None",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:49:06.362069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4682",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A1 were changed from Megaloblastic anemia, folate-responsive, MIM# 601775; Combined immunodeficiency, SLC19A1-related MONDO:0015131 to Megaloblastic anemia, folate-responsive, MIM# 601775; Combined immunodeficiency, SLC19A1-related MONDO:0015131; myelomeningocele MONDO:0019773, SLC19A1-related",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:48:28.369437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4681",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SLC19A1: Rating: RED; Mode of pathogenicity: None; Publications: 28948692; Phenotypes: myelomeningocele MONDO:0019773. SLC19A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:45:57.882503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4681",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: WWP1 was added\ngene: WWP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WWP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WWP1 were set to 41786693; 32699206\nPhenotypes for gene: WWP1 were set to Neurodevelopmental disorder, MONDO:0700092, WWP1-related\nReview for gene: WWP1 was set to RED\nAdded comment: WWP1 encodes a E3 ubiquitin ligase involved in protein trafficking.\r\n\r\nPMID: 32699206 describes 10 individuals with autism found to have missense or splice variants in WWP1 with an autism phenotype. Variants were all found to be inherited apart from 2 in which inheritance was unknown. Phenotypes of parents were not included in the publication. Authors propose variants in this gene are more common in neurodevelopmental cohorts than control populations. \r\nAll variants apart from 1 detected in affected individuals were present in gnomad v4, with allele frequencies ranging from 4 heterozygotes to 4000 heterozygotes. \r\n\r\nPMID: 41786693 describes another affected individual with development epileptic encephalopathy and regression with a de novo missense in WWP1. This variant was present in 4 heterozygotes in gnomad v4. \r\nExtensive functional studies were performed in this paper in mice and cell lines showing gain of function variants in WWP1 in mice embryos resulted in abnormal neuronal migration and increased neuronal apoptosis. \r\n\r\nFurther studies are needed to demonstrate a Mendelian gene disease association. \nSources: Literature",
"entity_name": "WWP1",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:43:57.153461+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.58",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: RBMX were set to 25256757; 34260915; 37277488; 39263607",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:43:49.647624+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARG as ready",
"entity_name": "RARG",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:43:49.637050+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rarg has been classified as Red List (Low Evidence).",
"entity_name": "RARG",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:43:36.242668+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RARG from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-31T16:43:36.188576+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARG was added\ngene: RARG was added to Ectodermal Dysplasia. Sources: Expert Review Red,Literature\nMode of inheritance for gene: RARG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RARG were set to 41830175\nPhenotypes for gene: RARG were set to Ectodermal dysplasia syndrome, MONDO:0019287, RARG-related",
"entity_name": "RARG",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:43:31.294823+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.57",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: RBMX were changed from Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555; Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related to Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:43:23.545886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARG as ready",
"entity_name": "RARG",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:43:23.533184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rarg has been classified as Red List (Low Evidence).",
"entity_name": "RARG",
"entity_type": "gene"
},
{
"created": "2026-03-31T16:43:14.564345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 41830175 reports four affected members from a single family with a heterozygous truncating RARG variant (c.1237C>T, p.Arg413*) causing childhood‑onset urothelial keratinising squamous metaplasia (KDSM) and associated ectodermal features; the variant segregates in an autosomal‑dominant pattern and functional assays demonstrate dominant‑negative loss‑of‑function, but evidence is limited to one family. \nSources: Literature; to: PMID 41830175 reports four affected members from a single family with a heterozygous truncating RARG variant (c.1237C>T, p.Arg413*) causing childhood‑onset urothelial keratinising squamous metaplasia (KDSM) and associated ectodermal features. The truncating variant does not destabilise the transcript or protein produced from this allele but instead predicts the loss of half of helix 12 of RARγ, leading to reduced responsiveness of the receptor to all-trans retinoic acid via a dominant negative mechanism. Mice heterozygous for the variant demonstrated upregulation of cytokeratin-10 in the bladder and ureteric epithelium consistent with keratinising squamous metaplasia of the urothelium.\r\nSources: Literature",
"entity_name": "RARG",
"entity_type": "gene"
}
]
}