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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=154",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=152",
"results": [
{
"created": "2025-10-08T16:20:14.419214+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC2 as ready",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:20:14.412275+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:20:11.394246+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:19:49.635241+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:18:51.790512+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC1 as ready",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:18:51.780281+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:18:49.285401+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:18:26.267548+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:17:37.397743+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TH from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-08T16:16:52.464613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TH as ready",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:16:52.457783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: th has been classified as Green List (High Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:16:44.202601+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TH as Green List (high evidence)",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:16:44.190485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: th has been classified as Green List (High Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:16:29.412960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established association with infantile onset DOPA-reponsive dystonia. \nSources: Literature; to: Well established association with infantile onset DOPA-responsive dystonia. \r\nSources: Literature",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:16:20.012315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TH was added\ngene: TH was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TH were set to Segawa syndrome, recessive MIM#605407\nReview for gene: TH was set to GREEN\nAdded comment: Well established association with infantile onset DOPA-reponsive dystonia. \nSources: Literature",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:13:26.374349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, MIM# 259700 to Osteopetrosis, autosomal recessive 1, MIM# 259700; severe congenital neutropenia, MONDO:0018542, TCIRG1-related",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:13:06.692779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCIRG1 were set to 34624559; 34210262; 30084437; 28816234",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:13:05.411751+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.32",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: MDC1 was added\ngene: MDC1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDC1 were set to PMID: 40954969, 34089056\nPhenotypes for gene: MDC1 were set to Oligoasthenoteratozoospermia, MONDO:0850098, MDC1-related\nReview for gene: MDC1 was set to AMBER\nAdded comment: MDC1 encodes mediator of DNA damage checkpoint I protein.\r\n\r\nPMID: 40954969 describes 2 affected individuals with biallelic loss of function (nonsense and start loss) variants in MDC1 with reduced sperm count, abnormal morphology and poor motility. 1 family consanguineous.\r\nPMID: 34089056 describes 1 similarly affected individual with 2 loss of function variants not confirmed in trans.\r\nAll adequately rare in gnomad v4.\r\nNo homozygous NMD predicted variants in gnomad v4.\r\n\r\nKnockout mice models show meiotic arrest in spermatocytes which subsequently undergo apoptosis.\r\n\r\nFunctional studies performed in PMID:40954969 showed lack of protein in affected patient cells and lack of colocalization usual partner protein. Didn't demonstrate conclusively loss of downstream function. \nSources: Literature",
"entity_name": "MDC1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:12:39.626267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCIRG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:12:25.157939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCIRG1: Added comment: PMID: 40964614, now total of 6 families with neutropenia and supportive functional data, upgrade mono-allelic association to Green.; Changed publications: 34624559, 34210262, 30084437, 28816234, 40964614",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:11:49.167753+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCIRG1 were set to 24753205; 35573728",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:11:44.708282+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3316",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: MDC1 was added\ngene: MDC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDC1 were set to PMID: 40954969, 34089056\nPhenotypes for gene: MDC1 were set to Oligoasthenoteratozoospermia, MONDO:0850098, MDC1-related\nReview for gene: MDC1 was set to AMBER\nAdded comment: MDC1 encodes mediator of DNA damage checkpoint I protein. \r\n\r\nPMID: 40954969 describes 2 affected individuals with biallelic loss of function (nonsense and start loss) variants in MDC1 with reduced sperm count, abnormal morphology and poor motility. 1 family consanguineous. \r\nPMID: 34089056 describes 1 similarly affected individual with 2 loss of function variants not confirmed in trans. \r\nAll adequately rare in gnomad v4.\r\nNo homozygous NMD predicted variants in gnomad v4. \r\n\r\nKnockout mice models show meiotic arrest in spermatocytes which subsequently undergo apoptosis.\r\n\r\nFunctional studies performed in PMID:40954969 showed lack of protein in affected patient cells and lack of colocalization usual partner protein. Didn't demonstrate conclusively loss of downstream function. \nSources: Literature",
"entity_name": "MDC1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:11:25.485434+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCIRG1 as Green List (high evidence)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:11:25.478276+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Green List (High Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:10:36.964873+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCIRG1: Added comment: PMID: 40964614, now total of 6 families and supportive functional data, upgrade to Green.; Changed rating: GREEN; Changed publications: 24753205, 35573728, 40964614",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:07:47.613864+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STK11 as ready",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:07:47.604291+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk11 has been classified as Green List (High Evidence).",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:07:45.039183+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STK11 were changed from to Peutz-Jeghers syndrome, MIM# 175200",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:07:19.353225+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STK11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:06:19.702093+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant, MIM#\t182601 to Spastic paraplegia 4, autosomal dominant, MIM# 182601; Cerebral Palsy MONDO:0006497, SPAST-related, AR",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:06:06.484423+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPAST were set to ",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:05:54.642748+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPAST was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:05:38.329484+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPAST: Added comment: PMID 41000004: 5 individuals from three unrelated families reported with bi-allelic variants and presenting with CP. Functional studies demonstrated reduced spastin and tubulin levels, mitochondrial fragmentation, and abnormal filopodia morphology in patient-derived fibroblasts, supporting the pathogenicity of the variants.; Changed publications: 41000004; Changed phenotypes: Spastic paraplegia 4, autosomal dominant, MIM# 182601, Cerebral Palsy MONDO:0006497, SPAST-related, AR; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:04:31.775950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant (MIM#182601), AD to Spastic paraplegia 4, autosomal dominant (MIM#182601), AD; Cerebral Palsy MONDO:0006497, SPAST-related, AR",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:04:12.825441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPAST were set to 30476002; 30006150",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:03:55.314418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPAST was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:03:38.173645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 41000004; Phenotypes: Cerebral Palsy MONDO:0006497, SPAST-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:02:19.865621+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPAST were changed from Cerebral Palsy (PMID:32989326) to Cerebral Palsy MONDO:0006497, SPAST-related",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:54:19.148121+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPAST were set to 32989326",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:53:50.127583+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPAST was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:53:26.032945+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPAST: Added comment: PMID 41000004: 5 individuals from three unrelated families reported with bi-allelic variants and presenting with CP. Functional studies demonstrated reduced spastin and tubulin levels, mitochondrial fragmentation, and abnormal filopodia morphology in patient-derived fibroblasts, supporting the pathogenicity of the variants.; Changed rating: GREEN; Changed publications: 41000004; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:50:09.253750+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHC as ready",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:50:09.247110+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhc has been classified as Green List (High Evidence).",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:50:01.372863+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:47:25.708268+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:46:46.090292+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHB as ready",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:46:46.082890+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhb has been classified as Green List (High Evidence).",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:46:43.064147+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:46:22.254998+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:45:00.369928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU2-2P were set to 40210679; 40442284",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:44:35.585416+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU2-2P was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:44:09.984449+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU2-2P: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:43:55.695156+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU2-2P: Added comment: PMID 40950445: reports bi-allelic cases in a cohort of over 100 individuals. One variant frequently de novo in trans with inherited variant.; Changed publications: 40210679, 40442284, 40950445",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:43:22.864507+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU2-2P were set to 40210679; 40442284",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:42:56.501330+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU2-2P was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:42:25.230051+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU2-2P: Added comment: PMID 40950445: reports bi-allelic cases in a cohort of over 100 individuals. One variant frequently de novo in trans with inherited variant.; Changed publications: 40210679, 40442284, 40950445; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:41:39.293624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU2-2P were set to 40210679; 40442284",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:41:12.742563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU2-2P was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:40:55.096975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 40950445: reports bi-alleic cases in a cohort of over 100 individuals. One variant frequently de novo in trans with inherited variant.; to: PMID 40950445: reports bi-allelic cases in a cohort of over 100 individuals. One variant frequently de novo in trans with inherited variant.",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:40:47.121275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 40950445: reports bi-alleic cases. One variant frequently de novo in trans with inherited variant.; to: PMID 40950445: reports bi-alleic cases in a cohort of over 100 individuals. One variant frequently de novo in trans with inherited variant.",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:40:01.172468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU2-2P: Added comment: PMID 40950445: reports bi-alleic cases. One variant frequently de novo in trans with inherited variant.; Changed publications: 40210679, 40442284, 40950445; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:37:24.253217+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:36:59.009610+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:01:00.229269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2025-10-08T15:00:44.326037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PKD1: Added comment: Rare reports of bi-allelic disease presenting antenatally.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:59:23.538468+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PANK2 as ready",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:59:23.527419+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:59:21.186303+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK2 were changed from to Neurodegeneration with brain iron accumulation 1 (MIM#234200)",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:58:59.934422+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PANK2 were set to ",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:58:31.307685+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:55:34.949148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSMR were changed from Amyloidosis, primary localized cutaneous, 1 - MIM#105250 to Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Inborn error of immunity, MONDO:0003778, OSMR-related",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:55:16.728428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OSMR were set to 19375894; 19528426; 25054142; 20507362; 19690585",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:54:59.119298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OSMR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:54:44.088129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: None; Publications: 40970115; Phenotypes: Inborn error of immunity, MONDO:0003778, OSMR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:53:48.188588+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSMR as ready",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:53:48.182090+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osmr has been classified as Green List (High Evidence).",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:53:41.753797+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSMR as Green List (high evidence)",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:53:41.743784+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osmr has been classified as Green List (High Evidence).",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:52:33.363224+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OSMR was added\ngene: OSMR was added to Autoinflammatory Disorders. Sources: Literature\nMode of inheritance for gene: OSMR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSMR were set to 40970115\nPhenotypes for gene: OSMR were set to Inborn error of immunity, MONDO:0003778, OSMR-related\nReview for gene: OSMR was set to GREEN\nAdded comment: 4 individuals from 4 unrelated families reported with bi-allelic LoF variants and severe widespread, early-onset atopic dermatitis, peripheral eosinophilia, and elevated serum IgE. Supportive functional data. \nSources: Literature",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:30:28.262717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP3K1 were set to 21129722; 32986312",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2025-10-08T14:30:03.616710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MAP3K1: PMID 39062623: single family reported with deafness and homozygous missense, but two supportive mouse models. RED for this association and MOI.",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2025-10-08T13:27:34.632866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL3 were set to 28100473; 27901041; 23383720",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2025-10-08T13:27:16.408525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 32696347: two families with compound het variants and congenital heart disease, some functional data.; to: PMID 32696347: two families with compound het variants and congenital heart disease, some functional data. RED for this MOI and association.",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2025-10-08T13:27:02.286882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASXL3: Added comment: PMID 32696347: two families with compound het variants and congenital heart disease, some functional data.; Changed publications: 28100473, 27901041, 23383720, 32696347",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2025-10-08T13:25:23.955600+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL3 as ready",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2025-10-08T13:25:23.944952+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl3 has been classified as Red List (Low Evidence).",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2025-10-08T13:25:04.110079+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASXL3 was added\ngene: ASXL3 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: ASXL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASXL3 were set to 32696347\nPhenotypes for gene: ASXL3 were set to Congenital heart disease, MONDO:0005453, ASXL3-related\nReview for gene: ASXL3 was set to RED\nAdded comment: Two families reported with compound heterozygous variants and some supportive functional data. \nSources: Literature",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2025-10-08T10:50:36.954919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: MSTO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2025-10-07T21:02:08.515852+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRNKL1 were changed from complex neurodevelopmental disorder MONDO:0100038 to complex neurodevelopmental disorder MONDO:0100038 CRNKL1-related",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T21:01:43.365828+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRNKL1 were set to ",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T21:00:32.493530+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRNKL1 as ready",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T21:00:32.482850+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crnkl1 has been classified as Green List (High Evidence).",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T21:00:27.462648+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRNKL1 were changed from intellectual disability; epilepsy; simplified gyration; microcephaly to Complex neurodevelopmental disorder, CRNKL1-related - MONDO:0100038",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:59:50.858428+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRNKL1 as Green List (high evidence)",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:59:50.850782+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crnkl1 has been classified as Green List (High Evidence).",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:59:19.796802+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRNKL1 were set to ",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:57:25.867649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMB as ready",
"entity_name": "EMB",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:57:25.856798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emb has been classified as Red List (Low Evidence).",
"entity_name": "EMB",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:56:53.372471+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMB as ready",
"entity_name": "EMB",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:56:53.362031+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emb has been classified as Red List (Low Evidence).",
"entity_name": "EMB",
"entity_type": "gene"
}
]
}