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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=43",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=41",
"results": [
{
"created": "2026-02-05T15:17:46.982711+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: CAV1 were changed from Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome to Congenital generalized lipodystrophy type 3, MONDO:0012923",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:16:42.257270+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.187",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: CAV1 were set to 18211975",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:16:17.158164+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.186",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CAV1 as Green List (high evidence)",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:16:17.149840+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.186",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cav1 has been classified as Green List (High Evidence).",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:16:08.458914+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18541701,34643546,11739396,12660144; Phenotypes: Congenital generalized lipodystrophy type 3, MONDO:0012923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:05:04.520463+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CNOT1 as ready",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:05:04.509338+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2026-02-05T15:02:27.899940+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.185",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CNOT1 from panel Holoprosencephaly and septo-optic dysplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T15:02:27.832164+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CNOT1 was added\ngene: CNOT1 was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CNOT1 were set to PMID: 31006513\nPhenotypes for gene: CNOT1 were set to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:58:35.961581+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ADRA2A as ready",
"entity_name": "ADRA2A",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:58:35.944778+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: adra2a has been classified as Red List (Low Evidence).",
"entity_name": "ADRA2A",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:58:26.667801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4245",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ADRA2A as ready",
"entity_name": "ADRA2A",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:58:26.641957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4245",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: adra2a has been classified as Red List (Low Evidence).",
"entity_name": "ADRA2A",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:58:05.240236+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NSMCE2 as ready",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:58:05.233056+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nsmce2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:57:55.491208+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NSMCE2 as ready",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:57:55.484280+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nsmce2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:57:42.951694+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:57:25.758319+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:56:52.267562+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.410",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:56:17.229099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4245",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:55:57.159940+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.183",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ADRA2A from panel Lipodystrophy_Lipoatrophy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T14:55:57.097277+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.183",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ADRA2A was added\ngene: ADRA2A was added to Monogenic Diabetes. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADRA2A were set to 27376152\nPhenotypes for gene: ADRA2A were set to Lipodystrophy, familial partial, type 8, OMIM #620679",
"entity_name": "ADRA2A",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:55:53.616077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4244",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ADRA2A from panel Lipodystrophy_Lipoatrophy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T14:55:53.070931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4244",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ADRA2A was added\ngene: ADRA2A was added to Mendeliome. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADRA2A were set to 27376152\nPhenotypes for gene: ADRA2A were set to Lipodystrophy, familial partial, type 8, OMIM #620679",
"entity_name": "ADRA2A",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:55:28.470213+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ADRA2A as ready",
"entity_name": "ADRA2A",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:55:28.459750+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: adra2a has been classified as Red List (Low Evidence).",
"entity_name": "ADRA2A",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:55:22.852647+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ADRA2A was added\ngene: ADRA2A was added to Lipodystrophy_Lipoatrophy. Sources: Genomics England PanelApp\nMode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADRA2A were set to 27376152\nPhenotypes for gene: ADRA2A were set to Lipodystrophy, familial partial, type 8, OMIM #620679\nReview for gene: ADRA2A was set to RED\nAdded comment: 3 affected members of an African American family with onset of atypical partial lipodystrophy around 13 to 15 years of age. As adults, all developed diabetes, hypertension, and hyperlipidemia with increased triglycerides. WES identified a heterozygous missense variant in ADRA2A (L68F), which was absent in ExAC or dbSNP databases and segregated with the disorder in the family. Two clinically unaffected children (3 and 8 years of age) who were younger than the age of symptom onset also carried the variant. Expression of the variant in HEK293 cells showed that the mutant ADRA2A protein was expressed and localized normally to the plasma membrane, but caused slightly increased cAMP production compared to wildtype. Differentiated adipose cells (3T3-L1) transfected with the mutation had a higher rate of basal lipolysis compared to controls, as evidenced by glycerol release. Synthesis of cAMP and lipolysis in cells carrying the variant were resistant to suppression by clonidine and not sensitive to yohimbine, suggesting that the variant results in a loss of function. The findings suggested that excessive lipolysis from certain adipose tissue deposits is the main mechanism causing the disorder. \nSources: Genomics England PanelApp",
"entity_name": "ADRA2A",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:02:22.763815+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.182",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NSMCE2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T14:02:22.496018+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.182",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NSMCE2 was added\ngene: NSMCE2 was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSMCE2 were set to 25105364\nPhenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10\nPenetrance for gene: NSMCE2 were set to Complete",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T14:02:19.524089+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.409",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene NSMCE2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T14:01:44.963177+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NSMCE2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T14:01:44.890116+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NSMCE2 was added\ngene: NSMCE2 was added to Growth failure. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSMCE2 were set to 25105364\nPhenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10\nPenetrance for gene: NSMCE2 were set to Complete",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:59:56.015577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4243",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NSMCE2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Seckel syndrome 10, MONDO:0014991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:56:30.233681+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PPP1R3A as ready",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:56:30.224984+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ppp1r3a has been classified as Red List (Low Evidence).",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:56:24.805746+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PPP1R3A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:56:24.730391+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PPP1R3A was added\ngene: PPP1R3A was added to Monogenic Diabetes. Sources: Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: PPP1R3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP1R3A were set to 29948331; 12118251; 18232732\nPhenotypes for gene: PPP1R3A were set to Insulin resistance, severe, digenic 125853",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:51:14.161702+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.180",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: LIPE as ready",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:51:14.153615+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.180",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lipe has been classified as Green List (High Evidence).",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:51:07.587735+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.180",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: LIPE were changed from LIPE-related familial partial lipodystrophy, MONDO:0014431 to LIPE-related familial partial lipodystrophy, MONDO:0014431",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:51:05.993913+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.180",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: LIPE were changed from Lipodystrophy, familial partial, type 6, 615980 to LIPE-related familial partial lipodystrophy, MONDO:0014431",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:50:47.810326+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: LIPE were changed from Lipodystrophy, familial partial, type 6, 615980 to LIPE-related familial partial lipodystrophy, MONDO:0014431",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:47:29.285173+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.179",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene LIPE from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:47:29.212149+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.179",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: LIPE was added\ngene: LIPE was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIPE were set to 27862896; 25475467; 24848981\nPhenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:47:23.624723+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene LIPE from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:46:31.317087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4243",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: LIPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIPE-related familial partial lipodystrophy, MONDO:0014431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPE",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:44:03.810751+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.178",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CAVIN1 as ready",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:44:03.801293+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.178",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cavin1 has been classified as Green List (High Evidence).",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:41:19.671541+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.178",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CAVIN1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:41:19.597495+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.178",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CAVIN1 was added\ngene: CAVIN1 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services\ntreatable tags were added to gene: CAVIN1.\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAVIN1 were set to 19726876; 20300641; 20684003; 18840361\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:38:13.125710+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: WRN as ready",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:38:13.113100+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wrn has been classified as Green List (High Evidence).",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:38:11.574802+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: WRN were set to 28476236; 8602509; 8968742; 9012406",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:37:54.497140+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.176",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WRN: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20301687; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:36:50.774781+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.176",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene WRN from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:36:50.709435+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.176",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: WRN was added\ngene: WRN was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WRN were set to 28476236; 8602509; 8968742; 9012406\nPhenotypes for gene: WRN were set to Werner syndrome, MIM# 277700; MONDO:0010196",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:33:40.807311+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.654",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:33:38.429975+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.368",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Amber List (moderate evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:33:38.417945+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.368",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:33:13.078774+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.175",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: RNU6ATAC as ready",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:33:13.067330+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.175",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:33:09.546108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.653",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:33:01.602221+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.368",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Amber List (moderate evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:33:01.592046+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.368",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:32:51.378015+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.653",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Amber List (moderate evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:32:51.365340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.653",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:32:30.999100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.652",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU6ATAC.",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:32:25.806703+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.367",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Amber List (moderate evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:32:25.797229+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.367",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:32:00.499269+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.367",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:31:46.628701+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.366",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU6ATAC.",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:31:24.378688+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.408",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:30:48.176305+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.407",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU6ATAC.",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:30:04.576492+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.175",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:30:04.569357+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.175",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:30:02.829214+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.175",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: BLM were set to 17407155; 9285778; 7585968; 8079989; 12242442; 11101838",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:29:36.981012+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.174",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301572; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:27:20.129017+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.174",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene BLM from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:27:20.056530+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.174",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLM were set to 17407155; 9285778; 7585968; 8079989; 12242442; 11101838\nPhenotypes for gene: BLM were set to Bloom Syndrome MIM# 210900; Short stature, dysmorphic facies; sun-sensitive; immunoglobulin deficiency (IgA, IgG, IgM); erythema; marrow failure; leukaemia; lymphoma; chromosomal instability; predisposition to malignancies",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:24:30.088999+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.173",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene RNU6ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:24:29.994643+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.173",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RNU6ATAC was added\ngene: RNU6ATAC was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature\nnon-coding gene tags were added to gene: RNU6ATAC.\nMode of inheritance for gene: RNU6ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU6ATAC were set to 40975062\nPhenotypes for gene: RNU6ATAC were set to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:24:27.277990+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.407",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene RNU6ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:23:48.594579+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.652",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene RNU6ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:23:09.331569+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.366",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene RNU6ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:21:40.178320+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.172",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TARS2 as ready",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:21:40.166851+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.172",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:21:37.945982+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.172",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TARS2 as Amber List (moderate evidence)",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:21:37.939109+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.172",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:21:30.975673+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.171",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TARS2 was added\ngene: TARS2 was added to Monogenic Diabetes. Sources: Expert List\nMode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TARS2 were set to 39509107\nPhenotypes for gene: TARS2 were set to Combined oxidative phosphorylation defect type 21, MONDO:0014398\nReview for gene: TARS2 was set to AMBER\nAdded comment: 4 individuals diagnosed with diabetes (3 neonatal and 1 at 52 weeks) shared a rare homozygous missense variant c.980G>A, p.(Arg327Gln), in TARS2. One proband had epilepsy, one had development delay and two had both. On haplotype analysis, individuals 1, 3 and 4 shared a 1.8 Mb region (including TARS2), indicating inheritance from a common ancestor. Individual 2 did not share a haplotype. The reported variant is rare (9 alleles in gnomAD v4.1.0, no homozygotes); Revel score = 0.32, Uncertain. Authors hypothesise that homozygous missense variants specifically in the TARS2 301‐381aa region may impair binding of TARS2 to Rag GTPases and disrupt the mTORC1 signalling pathway, leading to β‐cell dysfunction. \nSources: Expert List",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:14:31.561079+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.406",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Amber List (moderate evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:14:31.550600+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.406",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:12:26.697022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4243",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU6ATAC.",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:11:18.680845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4243",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:10:47.266524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4242",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Amber List (moderate evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:10:47.258988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4242",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:10:31.745588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4241",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RNU6ATAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal diabetes, humoral immunue defect, microcephaly, developmental delay.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:05:26.468507+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.170",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:04:14.106980+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.170",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene RNU4ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:04:14.001190+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.170",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services\nnon-coding gene tags were added to gene: RNU4ATAC.\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU4ATAC were set to 23794361; 26522830; 30455926; 29265708; 12605445\nPhenotypes for gene: RNU4ATAC were set to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
}
]
}