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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=31",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=29",
"results": [
{
"created": "2026-02-18T14:53:48.328944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4336",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: NME5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 48, without situs inversus MIM#620032",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:53:35.781957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4335",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: NME5 were set to 32185794",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:53:23.098224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4334",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: NME5 as Green List (high evidence)",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:53:23.091156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4334",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: nme5 has been classified as Green List (High Evidence).",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:53:06.681454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4333",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: NME5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32185794, 33635012, 37296588, 37998386, 37957793, 41499646; Phenotypes: Ciliary dyskinesia, primary, 48, without situs inversus MIM#620032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:51:17.263806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4333",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Classified gene: TBC1D8 as Green List (high evidence)",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:51:17.255251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4333",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Gene: tbc1d8 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:51:09.723112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4332",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Classified gene: TBC1D8 as Green List (high evidence)",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:51:09.713179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4332",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Gene: tbc1d8 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:50:35.006710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4331",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TBC1D8 was added\ngene: TBC1D8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TBC1D8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TBC1D8 were set to 41556581; 35248088; 33584793\nPhenotypes for gene: TBC1D8 were set to Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372\nReview for gene: TBC1D8 was set to GREEN\nAdded comment: GREEN AR - non-obstructive azoospermia or cryptozoospermia\r\nRED AD - Lennox‑Gastaut syndrome and non-syndromic hearing loss\r\n\r\nPMID: 41556581 - Two affected unrelated individuals with biallelic variants\r\nImmunofluorescence staining showed decreased protein expression in the testis of the affected individual compared to that of a fertile individual.\r\n\r\nPMID:35248088 - AD non-syndromic hearing loss\r\nDe novo heterozygous missense variant in one individual presenting with hearing loss\r\np.Ser666Leu - GrpMax FAF = 0.2% \r\n\r\nPMID: 33584793 - AD Lennox‑Gastaut syndrome\r\n12yrM presented with tonic, atonic seizures however had normal MRI\r\nAssumed de novo missense variant identified \nSources: Literature",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:33:55.528545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4330",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: ATP11C were set to 41523080; 40869043; 37892263; 37671681; 26944472",
"entity_name": "ATP11C",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:33:35.993742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4329",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: ATP11C: Changed publications: 41523080, 40869043, 37892263, 37671681, 26944472, 37314652",
"entity_name": "ATP11C",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:33:13.243138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4329",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: PMID: 40869043 reports 3 unrelated families with haemolytic anaemia and ATP11C variants. Probands were all hemizygous boys who had maternally inherited variants, all variants were absent or only has 1 het in gnomad. One family had a frameshift, another ha 2 missense variants in cis, and the third had a -7 splice variant that RT-PCR showed resulted in an in frame insertion. 2 probands were shown to have normal G6PD activity and haemoglobin, the third was not tested. The proband with the ATP11C frameshift also had a de novo missense in ANK1\r\n\r\nPMID: 37892263, 37671681, 26944472 report 3 hemizygous male haemolytic anaemia. However 2 of the patients had pathogenic variants in genes associated with spherocytosis SPTA1 and ANK1. The ATP11C variants were absent or rare in gnomad (note papers use different transcripts/p. numbering to gnomad). \r\n\r\nPMID: 41523080 reports 2 of the same patients as PMID:40869043 and additionally looked at Val972Met in a very large cohort of blood donors, but this variant is called Val969Met in gnomad where it has thousands of hets and hemizygotes. \nSources: Literature; to: PMID: 40869043 reports 4 patients from 3 unrelated families with haemolytic anaemia and ATP11C variants. Probands were all hemizygous boys who had maternally inherited variants, all variants were absent or only has 1 het in gnomad. One family had a frameshift, another ha 2 missense variants in cis, and the third had a -7 splice variant that RT-PCR showed resulted in an in frame insertion. 2 probands were shown to have normal G6PD activity and haemoglobin, the third was not tested. The proband with the ATP11C frameshift also had a de novo missense in ANK1. Studies in patient RBS for all 4 patients showed reduced flippase activity.\r\n\r\nPMID: 37892263, 37671681, 26944472 report 3 hemizygous male haemolytic anaemia. However 2 of the patients had pathogenic variants in genes associated with spherocytosis SPTA1 and ANK1. The ATP11C variants were absent or rare in gnomad (note papers use different transcripts/p. numbering to gnomad). \r\n\r\nPMID: 41523080 reports 2 of the same patients as PMID:40869043 and additionally looked at Val972Met in a very large cohort of blood donors, but this variant is called Val969Met in gnomad where it has thousands of hets and hemizygotes. \r\n\r\nPMID: 37314652 One hemizygous male with a frameshift in ATP11C and agranulocytosis, recurrent acute liver failure and developmental delay. Previously published mouse models deficient in ATP11C displayed conjugated hyperbilirubinemia, hyperchloremia, and hemolytic anemia.\r\nSources: Literature",
"entity_name": "ATP11C",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:19:19.852660+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.46",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene ATP11C from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-18T14:19:19.762462+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.46",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ATP11C was added\ngene: ATP11C was added to Red cell disorders. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ATP11C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ATP11C were set to 41523080; 40869043; 37892263; 37671681; 26944472\nPhenotypes for gene: ATP11C were set to Hemolytic anemia, congenital, X-linked MIM#301015",
"entity_name": "ATP11C",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:18:51.830535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4329",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: ATP11C as Amber List (moderate evidence)",
"entity_name": "ATP11C",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:18:51.820208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4329",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: atp11c has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11C",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:18:00.840782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4328",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ATP11C was added\ngene: ATP11C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP11C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ATP11C were set to 41523080; 40869043; 37892263; 37671681; 26944472\nPhenotypes for gene: ATP11C were set to Hemolytic anemia, congenital, X-linked MIM#301015\nReview for gene: ATP11C was set to AMBER\nAdded comment: PMID: 40869043 reports 3 unrelated families with haemolytic anaemia and ATP11C variants. Probands were all hemizygous boys who had maternally inherited variants, all variants were absent or only has 1 het in gnomad. One family had a frameshift, another ha 2 missense variants in cis, and the third had a -7 splice variant that RT-PCR showed resulted in an in frame insertion. 2 probands were shown to have normal G6PD activity and haemoglobin, the third was not tested. The proband with the ATP11C frameshift also had a de novo missense in ANK1\r\n\r\nPMID: 37892263, 37671681, 26944472 report 3 hemizygous male haemolytic anaemia. However 2 of the patients had pathogenic variants in genes associated with spherocytosis SPTA1 and ANK1. The ATP11C variants were absent or rare in gnomad (note papers use different transcripts/p. numbering to gnomad). \r\n\r\nPMID: 41523080 reports 2 of the same patients as PMID:40869043 and additionally looked at Val972Met in a very large cohort of blood donors, but this variant is called Val969Met in gnomad where it has thousands of hets and hemizygotes. \nSources: Literature",
"entity_name": "ATP11C",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:31:24.157123+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.423",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene BARD1 from panel Breast Cancer",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-18T12:31:23.910999+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.423",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BARD1 was added\ngene: BARD1 was added to Incidentalome. Sources: Expert Review Green,Expert Review,Expert list\nMode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BARD1 were set to Breast cancer, MONDO:0007254; BARD1-related cancer predisposition, MONDO:0700267; Breast cancer, susceptibility to, MIM#114480",
"entity_name": "BARD1",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:28:40.803746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPR101 as ready",
"entity_name": "GPR101",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:28:40.796371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpr101 has been classified as Green List (High Evidence).",
"entity_name": "GPR101",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:21:03.063763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease association with a GeneReviews. Heterozygous or hemizygous for a germline variant or somatic duplication. \nSources: Literature; to: Well-established gene-disease association with X-Linked Acrogigantism (has a GeneReviews). Heterozygous or hemizygous for a germline variant or somatic duplication. \r\nSources: Literature",
"entity_name": "GPR101",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:20:24.299657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPR101 as Green List (high evidence)",
"entity_name": "GPR101",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:20:24.289509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpr101 has been classified as Green List (High Evidence).",
"entity_name": "GPR101",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:20:05.740163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPR101 was added\ngene: GPR101 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GPR101 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: GPR101 were set to 29389097\nPhenotypes for gene: GPR101 were set to pituitary adenoma, growth hormone-secreting, 2 MONDO:0010492\nReview for gene: GPR101 was set to GREEN\nAdded comment: Well-established gene-disease association with a GeneReviews. Heterozygous or hemizygous for a germline variant or somatic duplication. \nSources: Literature",
"entity_name": "GPR101",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:07:10.558016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4325",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MID2 was added\ngene: MID2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MID2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MID2 were set to 24115387\nPhenotypes for gene: MID2 were set to non-syndromic X-linked intellectual disability MONDO:0019181\nReview for gene: MID2 was set to RED\nAdded comment: A single family reported \nSources: Literature",
"entity_name": "MID2",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:03:08.448925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4324",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HMGB3 as ready",
"entity_name": "HMGB3",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:03:08.438489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4324",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmgb3 has been classified as Red List (Low Evidence).",
"entity_name": "HMGB3",
"entity_type": "gene"
},
{
"created": "2026-02-18T12:02:33.239285+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4324",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMGB3 was added\ngene: HMGB3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: HMGB3 were set to 24993872\nPhenotypes for gene: HMGB3 were set to X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome\tMONDO:0010485\nReview for gene: HMGB3 was set to RED\nAdded comment: A single family reported in 2014, segregating a hemizygous frameshift variant in affected men \nSources: Literature",
"entity_name": "HMGB3",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:45:10.981597+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TTC29 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-18T11:45:10.885244+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTC29 was added\ngene: TTC29 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TTC29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC29 were set to 31735292\nPhenotypes for gene: TTC29 were set to spermatogenic failure MONDO:0004983",
"entity_name": "TTC29",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:44:55.922854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTC29 as ready",
"entity_name": "TTC29",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:44:55.912012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttc29 has been classified as Green List (High Evidence).",
"entity_name": "TTC29",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:44:49.332952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTC29 as Green List (high evidence)",
"entity_name": "TTC29",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:44:49.322129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttc29 has been classified as Green List (High Evidence).",
"entity_name": "TTC29",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:44:32.233173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTC29 was added\ngene: TTC29 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TTC29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC29 were set to 31735292\nPhenotypes for gene: TTC29 were set to spermatogenic failure MONDO:0004983\nReview for gene: TTC29 was set to GREEN\nAdded comment: 5 unrelated men with infertility and a supporting null mouse model \nSources: Literature",
"entity_name": "TTC29",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:40:58.948281+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.85",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CCDC146 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-18T11:40:58.850552+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.85",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCDC146 was added\ngene: CCDC146 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CCDC146 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC146 were set to 38441556; 39245651\nPhenotypes for gene: CCDC146 were set to spermatogenic failure MONDO:0004983",
"entity_name": "CCDC146",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:40:45.362833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CCDC146 as ready",
"entity_name": "CCDC146",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:40:45.351864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccdc146 has been classified as Green List (High Evidence).",
"entity_name": "CCDC146",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:40:39.287979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCDC146 as Green List (high evidence)",
"entity_name": "CCDC146",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:40:39.277055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccdc146 has been classified as Green List (High Evidence).",
"entity_name": "CCDC146",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:40:20.658369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4320",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCDC146 was added\ngene: CCDC146 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC146 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC146 were set to 38441556; 39245651\nPhenotypes for gene: CCDC146 were set to spermatogenic failure MONDO:0004983\nReview for gene: CCDC146 was set to GREEN\nAdded comment: 3 males with biallelic variants and a supporting infertile mouse model. \nSources: Literature",
"entity_name": "CCDC146",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:34:36.874550+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.84",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ARMC12 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-18T11:34:36.749750+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARMC12 was added\ngene: ARMC12 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ARMC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC12 were set to 35534203; 33536340\nPhenotypes for gene: ARMC12 were set to spermatogenic failure MONDO:0004983",
"entity_name": "ARMC12",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:34:20.780760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARMC12 as ready",
"entity_name": "ARMC12",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:34:20.770255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: armc12 has been classified as Green List (High Evidence).",
"entity_name": "ARMC12",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:34:11.882243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARMC12 as Green List (high evidence)",
"entity_name": "ARMC12",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:34:11.863147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: armc12 has been classified as Green List (High Evidence).",
"entity_name": "ARMC12",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:33:48.458139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4318",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARMC12 was added\ngene: ARMC12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARMC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC12 were set to 35534203; 33536340\nPhenotypes for gene: ARMC12 were set to spermatogenic failure MONDO:0004983\nReview for gene: ARMC12 was set to GREEN\nAdded comment: 3 males from 2 families with hom/chet variants and a supporting null mouse model. \nSources: Literature",
"entity_name": "ARMC12",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:28:22.506581+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.83",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CFAP61 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-18T11:28:22.416359+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CFAP61 was added\ngene: CFAP61 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CFAP61 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP61 were set to 36659204; 34792097; 35387802; 35174165\nPhenotypes for gene: CFAP61 were set to spermatogenic failure MONDO:0004983",
"entity_name": "CFAP61",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:28:10.024466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CFAP61 as ready",
"entity_name": "CFAP61",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:28:10.014287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cfap61 has been classified as Green List (High Evidence).",
"entity_name": "CFAP61",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:28:02.706004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CFAP61 as Green List (high evidence)",
"entity_name": "CFAP61",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:28:02.696700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cfap61 has been classified as Green List (High Evidence).",
"entity_name": "CFAP61",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:27:38.311041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CFAP61 was added\ngene: CFAP61 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP61 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP61 were set to 36659204; 34792097; 35387802; 35174165\nPhenotypes for gene: CFAP61 were set to spermatogenic failure MONDO:0004983\nReview for gene: CFAP61 was set to GREEN\nAdded comment: At least 6 unrelated men with chet/hom variants and a supporting mouse model \nSources: Literature",
"entity_name": "CFAP61",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:22:35.013123+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.82",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NUP210L from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-18T11:22:34.915014+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NUP210L was added\ngene: NUP210L was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NUP210L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP210L were set to 20034429; 33332558\nPhenotypes for gene: NUP210L were set to spermatogenic failure MONDO:0004983",
"entity_name": "NUP210L",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:22:20.692666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NUP210L as ready",
"entity_name": "NUP210L",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:22:20.685719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nup210l has been classified as Red List (Low Evidence).",
"entity_name": "NUP210L",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:22:11.336139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NUP210L was added\ngene: NUP210L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NUP210L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP210L were set to 20034429; 33332558\nPhenotypes for gene: NUP210L were set to spermatogenic failure MONDO:0004983\nReview for gene: NUP210L was set to RED\nAdded comment: Single case from a consanguineous family and a supporting null mouse model. \nSources: Literature",
"entity_name": "NUP210L",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:10:25.349504+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTPN2 as ready",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:10:25.342017+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpn2 has been classified as Green List (High Evidence).",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:09:21.565890+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTPN2 as Green List (high evidence)",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:09:21.555889+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpn2 has been classified as Green List (High Evidence).",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2026-02-18T11:08:54.608116+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPN2 was added\ngene: PTPN2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN2 were set to 41545210; 39028869; 39959585\nPhenotypes for gene: PTPN2 were set to Inborn error of immunity, MONDO:0003778\nReview for gene: PTPN2 was set to GREEN\ngene: PTPN2 was marked as current diagnostic\nAdded comment: 3 cases (2 de novo and 1 likely de novo but father unavailable for testing) with interstitial lung disease as a feature of the phenotype. Variants are associated with reduced PTPN2 expression. \nSources: Literature",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2026-02-18T10:50:59.451446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PTPN2 were set to 32499645; 27658548; 39028869",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2026-02-18T10:50:12.306662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PTPN2: Added comment: 2 consanguineous cases with homozygous missense variants in PTPN2 (heterozygous individuals unaffected). Phenotypes differ between common variable immunodeficiency with bronchiectasis, or early‑onset Crohn disease with growth failure and neurodevelopmental delay.; Changed rating: RED; Changed publications: 37537852, 35389161; Changed phenotypes: Inborn error of immunity, MONDO:0003778, Syndromic disease, MONDO:0002254; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2026-02-17T21:02:18.482829+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAPGEF2 as ready",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T21:02:18.472416+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rapgef2 has been classified as Red List (Low Evidence).",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T21:02:10.169459+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAPGEF2 as Red List (low evidence)",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T21:02:10.161728+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rapgef2 has been classified as Red List (Low Evidence).",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T21:01:33.895005+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Red for ALS & green for neurodevelopmental disorder\r\nPMID: 30636905 - single individual with early‑onset ALS and a de novo missense gain‑of‑function variant\r\nPMID: 41556274 - 5 unrelated individuals with a childhood‑onset neurodevelopmental disorder with de novo likely haploinsufficient loss‑of‑function variants.; to: A single individual with early‑onset ALS and a de novo missense gain‑of‑function variant",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T21:01:16.038052+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: RAPGEF2: Changed rating: RED; Changed publications: 30636905; Changed phenotypes: amyotrophic lateral sclerosis MONDO:0004976",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T21:00:39.124375+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.41",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RAPGEF2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-17T21:00:38.862714+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAPGEF2 was added\ngene: RAPGEF2 was added to Motor Neurone Disease. Sources: Expert Review Green,Literature\nSTR tags were added to gene: RAPGEF2.\nMode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAPGEF2 were set to 41556274; 30636905\nPhenotypes for gene: RAPGEF2 were set to Neurodevelopmental disorder, MONDO:0700092; amyotrophic lateral sclerosis MONDO:0004976",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T20:59:10.788322+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.668",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RAPGEF2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-17T20:59:10.214959+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.668",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAPGEF2 was added\ngene: RAPGEF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nSTR tags were added to gene: RAPGEF2.\nMode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAPGEF2 were set to 41556274; 30636905\nPhenotypes for gene: RAPGEF2 were set to Neurodevelopmental disorder, MONDO:0700092; amyotrophic lateral sclerosis MONDO:0004976",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T20:59:05.251825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4313",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR RAPGEF2_FAME7_TTTCA from panel Genetic Epilepsy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-17T20:59:02.766625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: RAPGEF2_FAME7_TTTCA was added\nSTR: RAPGEF2_FAME7_TTTCA was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for STR: RAPGEF2_FAME7_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: RAPGEF2_FAME7_TTTCA were set to 29507423; 30351492; 33791773\nPhenotypes for STR: RAPGEF2_FAME7_TTTCA were set to Epilepsy, familial adult myoclonic, 7 MIM#618075",
"entity_name": "RAPGEF2_FAME7_TTTCA",
"entity_type": "str"
},
{
"created": "2026-02-17T20:56:55.239791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAPGEF2 as ready",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T20:56:55.226724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rapgef2 has been classified as Green List (High Evidence).",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T20:56:34.799544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: RAPGEF2 were changed from ?Epilepsy, familial adult myoclonic, 7 MIM# 618075 to Neurodevelopmental disorder, MONDO:0700092; amyotrophic lateral sclerosis MONDO:0004976",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T20:56:13.880237+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RAPGEF2 were set to 37021642; 30351492; 29507423",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T20:55:50.018300+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAPGEF2 as Green List (high evidence)",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T20:55:50.007112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rapgef2 has been classified as Green List (High Evidence).",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T20:55:10.756591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RAPGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 41556274, 30636905; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, amyotrophic lateral sclerosis MONDO:0004976; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:30:20.251563+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBF2 as ready",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:30:20.237193+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:29:51.789711+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EBF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:29:21.931878+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EBF2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:28:55.867837+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EBF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:27:24.536382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EBF2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:17:49.805734+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene EBF2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-17T18:17:49.582394+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EBF2 was added\ngene: EBF2 was added to Lipodystrophy_Lipoatrophy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: EBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EBF2 were set to 41615236; 38978649; 29704291\nPhenotypes for gene: EBF2 were set to Lipodystrophy, MONDO:0006573, EBF2-related",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:16:38.183565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EBF2 as Amber List (moderate evidence)",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:16:38.174329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:16:22.243663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EBF2: Changed rating: AMBER",
"entity_name": "EBF2",
"entity_type": "gene"
}
]
}