HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=23",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=21",
"results": [
{
"created": "2026-03-06T15:56:11.556500+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDP1 were set to 31182267; 12244316",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:55:50.214471+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TDP1: Additional family reported in PMID 39576382 with different homozygous missense, c.1432C>T (p.His478Tyr). The affected individual had severe hypotonia, ataxia, distal axonal neuropathy, seizures at 9‑10 months, kyphoscoliosis, hearing/vision loss and moderate cognitive impairment. No other supportive data.",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:55:25.939261+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TDP1: Changed publications: 31182267, 12244316, 39576382",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:55:08.722467+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDP1 as ready",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:55:08.715388+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:55:06.171162+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDP1 were set to 31182267; 12244316",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:54:42.620001+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TDP1: Added comment: Additional family reported in PMID 39576382 with different homozygous missense, c.1432C>T (p.His478Tyr). The affected individual had severe hypotonia, ataxia, distal axonal neuropathy, seizures at 9‑10 months, kyphoscoliosis, hearing/vision loss and moderate cognitive impairment. No other supportive data.; Changed publications: 31182267, 12244316, 39576382",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:54:17.005396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDP1 were set to 31182267; 12244316",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:50:57.250358+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.240",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene PRPF6 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-06T15:49:51.751621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4495",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: PRPF6 were set to 21549338; 32335390",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:49:28.421771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4494",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PRPF6 as Green List (high evidence)",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:49:28.406721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4494",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: prpf6 has been classified as Green List (High Evidence).",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:49:09.451394+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4493",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRPF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21549338, 32335390, 36012314, 41584402; Phenotypes: Retinitis pigmentosa 60 MIM#613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:46:35.430441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is an autosomal recessive neurologic disorder characterized by onset of gait disturbances in the first or second decades of life. Affected individuals have cerebellar ataxia associated with cerebellar atrophy on brain imaging, as well as an axonal sensorimotor neuropathy with distal sensory impairment, hypo- or areflexia, pes cavus, and steppage gait.\r\n\r\nThree families reported, however all from Middle East and had same homozygous missense variant.; to: Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is an autosomal recessive neurologic disorder characterized by onset of gait disturbances in the first or second decades of life. Affected individuals have cerebellar ataxia associated with cerebellar atrophy on brain imaging, as well as an axonal sensorimotor neuropathy with distal sensory impairment, hypo- or areflexia, pes cavus, and steppage gait.\r\n\r\nThree families reported, however all from Middle East and had same homozygous missense variant p.H493R.",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:45:40.131450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TDP1: Added comment: Additional family reported in PMID 39576382 with different homozygous missense, c.1432C>T (p.His478Tyr). The affected individual had severe hypotonia, ataxia, distal axonal neuropathy, seizures at 9‑10 months, kyphoscoliosis, hearing/vision loss and moderate cognitive impairment. No other supportive data.; Changed publications: 31182267, 12244316, 39576382",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:17:25.839507+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STX4 as ready",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:17:25.829202+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:08:30.595454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STX4 were set to 36355422",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:07:18.351183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STX4: Added comment: PMID 35599850: two unrelated families were identified with biallelic STX4 variants: Family 1 with a homozygous missense c.718C>T (p.Arg240Trp) and Family 2 compound heterozygous c.89_90delGC (p.Gly30Aspfs*28) and c.232+4A>C (splice‑site). Affected individuals present with early‑onset dilated cardiomyopathy, ventricular arrhythmia, sensorineural hearing loss, global developmental delay, hypotonia and multiple congenital anomalies; the second individual died perinatally. CRISPR‑generated stx4‑null zebrafish recapitulate cardiac dysfunction, bradycardia, reduced vesicle docking and altered Ca²⁺ handling. Transgenic rescue with wild‑type stx4 restores phenotype, whereas the R241W (human R240W) allele is hypomorphic and only partially rescues, supporting a loss‑of‑function mechanism. Pharmacologic L‑type Ca²⁺ channel modulation ameliorated bradycardia, further underscoring functional loss of STX4.\r\n\r\nUnclear if this is a separate disease association or whether it will be part of a spectrum with the previous isolated deafness reports.; Changed rating: AMBER; Changed publications: 36355422, 35599850; Changed phenotypes: Deafness, autosomal recessive 123, MIM# 620745; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:06:03.088685+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene STX4 from panel Deafness_IsolatedAndComplex",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-06T15:06:02.863893+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STX4 was added\ngene: STX4 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Amber,Literature,Literature\nMode of inheritance for gene: STX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STX4 were set to 36355422; 35599850\nPhenotypes for gene: STX4 were set to Deafness, autosomal recessive 123, MIM# 620745",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:01:17.897537+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STX4 were set to 36355422",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2026-03-06T15:00:37.595696+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STX4: Added comment: PMID 35599850: two unrelated families were identified with biallelic STX4 variants: Family 1 with a homozygous missense c.718C>T (p.Arg240Trp) and Family 2 compound heterozygous c.89_90delGC (p.Gly30Aspfs*28) and c.232+4A>C (splice‑site). Affected individuals present with early‑onset dilated cardiomyopathy, ventricular arrhythmia, sensorineural hearing loss, global developmental delay, hypotonia and multiple congenital anomalies; the second individual died perinatally. CRISPR‑generated stx4‑null zebrafish recapitulate cardiac dysfunction, bradycardia, reduced vesicle docking and altered Ca²⁺ handling. Transgenic rescue with wild‑type stx4 restores phenotype, whereas the R241W (human R240W) allele is hypomorphic and only partially rescues, supporting a loss‑of‑function mechanism. Pharmacologic L‑type Ca²⁺ channel modulation ameliorated bradycardia, further underscoring functional loss of STX4.\r\n\r\nUnclear if this is a separate disease association or whether it will be part of a spectrum with the previous isolated deafness reports.; Changed publications: 36355422, 35599850",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2026-03-06T10:17:04.661762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4492",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SFTPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31601679; Phenotypes: Interstitial lung disease 1 MIM#619611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFTPA1",
"entity_type": "gene"
},
{
"created": "2026-03-05T11:07:02.558762+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.120",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Added reviews for gene TDRD6 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-05T11:06:49.410743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4492",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: TDRD6: Rating: GREEN; Mode of pathogenicity: None; Publications: 39764564, 39331689, 38341271; Phenotypes: Infertility disorder, MONDO:0005047, TDRD6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDRD6",
"entity_type": "gene"
},
{
"created": "2026-03-05T10:59:43.437089+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.119",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Added reviews for gene TDRD12 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-05T10:59:18.152076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4492",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: TDRD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 40750267, 39122675; Phenotypes: Spermatogenic failure, MONDO:0004983, TDRD12-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDRD12",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:54:01.653921+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SREBF2 as ready",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:54:01.642750+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:53:59.214987+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SREBF2 were changed from Neurocutaneous syndrome, MONDO:0042983, SREBF2-related; Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related to Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:53:29.603212+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SREBF2 were set to 38847193; 39814172",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:52:58.547192+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SREBF2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:51:34.161772+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:51:31.651596+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SREBF2: Changed publications: 39814172; Changed phenotypes: Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:51:06.859079+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SREBF2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-05T08:51:06.334645+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SREBF2 was added\ngene: SREBF2 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SREBF2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SREBF2 were set to 38847193; 39814172\nPhenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related; Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:50:23.635115+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SREBF2 were changed from Neurocutaneous syndrome, MONDO:0042983, SREBF2-related to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related; Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:50:04.778038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SREBF2 were set to 38847193",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:49:43.614685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SREBF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:49:20.730757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SREBF2: Added comment: PMID 39814172: reports three homozygous missense variants (p.L604W, p.T984A, p.S517F) in three unrelated families (two consanguineous families). Detailed clinical descriptions are provided for two families: Family 1 (two affected siblings, onset 39 y and 25 y, progressive spastic gait, pyramidal signs, no cognitive or peripheral neuropathy) and Family 2 (single female, onset 24 y, spastic gait, internal foot deformity, normal cognition). All carriers are asymptomatic. Functional assays in patient‑derived fibroblasts show increased mature SREBP2, cholesterol accumulation, and autophagosome/lysosome enlargement. Overexpression of the nuclear SREBP2 in Drosophila recapitulates locomotor deficits. The authors conclude that biallelic SREBF2 missense variants cause an autosomal recessive hereditary spastic paraplegia through gain‑of‑function overactivation of SREBP2.; Changed publications: 38847193, 39814172; Changed phenotypes: Neurocutaneous syndrome, MONDO:0042983, SREBF2-related, Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SREBF2",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:38:18.362798+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC23A as Amber List (moderate evidence)",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:38:18.352603+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:37:49.968582+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC23A: Added comment: Two families only with each MOI.; Changed rating: AMBER; Changed phenotypes: Craniolenticulosutural dysplasia, MIM# 607812",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:37:22.554165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC23A were set to 16980979; 21039434; 16980978; 27148587",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:37:01.503024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEC23A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:36:32.076753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC23A: Changed rating: AMBER",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:34:29.178496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four families (two AR, two de novo AD) with consistent craniofacial, skeletal and ophthalmologic features. Functional data from zebrafish knock‑down.; to: Four families (two AR, two AD) with consistent craniofacial, skeletal and ophthalmologic features. Functional data from zebrafish knock‑down.",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:33:39.397562+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC23A: Rating: GREEN; Mode of pathogenicity: None; Publications: 38275611, 37828500, 34580982; Phenotypes: Craniolenticulosutural dysplasia, MIM# 607812; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:18:41.582849+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REC8 were changed from Primary ovarian insufficiency to Infertility disorder, MONDO:0005047, REC8-related",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:18:26.149826+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REC8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Infertility disorder, MONDO:0005047, REC8-related; Mode of inheritance: None",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:17:54.451003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REC8 as Amber List (moderate evidence)",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-05T08:17:54.434524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rec8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-04T22:25:13.535513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4486",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TUB were set to 24375934; 28852204",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2026-03-04T22:24:44.542424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4485",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: TUB were changed from Retinal dystrophy and obesity, MIM# 616188 to inherited retinal dystrophy - MONDO:0019118, TUB-related",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2026-03-04T22:23:58.246248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4484",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TUB as Green List (high evidence)",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2026-03-04T22:23:58.236484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4484",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tub has been classified as Green List (High Evidence).",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2026-03-04T22:22:36.803526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4483",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Additional unrelated individuals identified\r\n\r\nPMID: 36650547 Xu et al 2023 report a homozygous variant (NM_003320.4, c.1379A>G, p.Asn460Ser) in an individual of Chinese ancestry with retinitis pigmentosa. No obesity\r\n\r\nPMID: 36498982 Ziccardi et al 2022 report a homozygous splice variant in a 35 yo M of European descent with retinal dystrophy and elevated BMI.; to: Additional unrelated individuals identified\r\n\r\nPMID: 36650547 Xu et al 2023 report a homozygous variant (NM_003320.4, c.1379A>G, p.Asn460Ser) in an individual of Chinese ancestry with retinitis pigmentosa. No obesity\r\n\r\nPMID: 36498982 Ziccardi et al 2022 report a homozygous splice variant in a 35 yo M of European descent with retinal dystrophy and elevated BMI.",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2026-03-04T22:22:24.530048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4483",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: TUB: Rating: GREEN; Mode of pathogenicity: None; Publications: 36498982, 32956375; Phenotypes: Retinal dystrophy and obesity - MIM#616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2026-03-04T15:06:08.124549+11:00",
"panel_name": "Hypertrophic cardiomyopathy",
"panel_id": 111,
"panel_version": "1.23",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene SVIL from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-04T15:06:07.895442+11:00",
"panel_name": "Hypertrophic cardiomyopathy",
"panel_id": 111,
"panel_version": "1.23",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SVIL was added\ngene: SVIL was added to Hypertrophic cardiomyopathy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SVIL were set to 32779703\nPhenotypes for gene: SVIL were set to Myofibrillar myopathy, MIM#619040\nPenetrance for gene: SVIL were set to unknown",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2026-03-04T15:04:58.540020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4483",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: SVIL: Rating: AMBER; Mode of pathogenicity: None; Publications: 39554508, 36778260, 32779703; Phenotypes: Hypertrophic cardiomyopathy MONDO:0005045, myofibrillar myopathy 10, MONDO:0033620; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2026-03-04T08:24:28.605692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4483",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ITPR3: Rating: RED; Mode of pathogenicity: None; Publications: 36302985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2026-03-04T08:23:16.770669+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.145",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ITPR3: Rating: RED; Mode of pathogenicity: None; Publications: 36302985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2026-03-04T07:47:44.724074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4483",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: OXGR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36571463; Phenotypes: Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:21:26.704218+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.687",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC2L were changed from Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related to Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:21:08.287867+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.686",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC2L were changed from Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 to Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:20:49.739274+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.686",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TRAPPC2L were set to 36849228; 32843486; 30120216",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:20:31.905197+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.685",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TRAPPC2L were set to 30120216; 32843486",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:20:12.803976+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.685",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TRAPPC2L as Green List (high evidence)",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:20:12.795579+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.685",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: trappc2l has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:19:27.458431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4483",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC2L were changed from Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 to Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:19:09.350465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4482",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TRAPPC2L were set to 30120216; 32843486",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:19:01.018343+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.684",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene TRAPPC2L from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-03T20:18:43.317314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4481",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TRAPPC2L as Green List (high evidence)",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:18:43.303118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4481",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: trappc2l has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T20:17:53.610463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4480",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: TRAPPC2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 36849228, 32843486, 30120216; Phenotypes: Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:36:04.093295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 35172124 reports homozygous frameshift deletion presenting with non‑obstructive azoospermia and meiotic arrest in a single affected individual. Further individual in PMID 31479588, but with homozygous missense.; to: PMID 35172124 reports homozygous frameshift deletion presenting with non‑obstructive azoospermia and meiotic arrest in a single affected individual. Further individual in PMID 31479588, but with het missense with relatively high pop frequency, discounted.",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:35:45.606579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: REC8: Changed rating: AMBER",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:35:26.379799+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REC8 as Amber List (moderate evidence)",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:35:26.373033+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rec8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:35:17.280066+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: REC8: Changed rating: AMBER",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:35:10.536995+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 35172124 reports homozygous frameshift deletion presenting with non‑obstructive azoospermia and meiotic arrest in a single affected individual. Further individual in PMID 31479588, but with homozygous missense.; to: PMID 35172124 reports homozygous frameshift deletion presenting with non‑obstructive azoospermia and meiotic arrest in a single affected individual. Further individual in PMID 31479588, but with heterozygous missense with high pop frequency.",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:34:02.495646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REC8 were changed from Primary ovarian insufficiency to Infertility disorder, MONDO:0005047, REC8-related",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:33:44.908378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: REC8 were set to 34794894; 15515002; 34707299",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:33:25.445591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REC8 as Green List (high evidence)",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:33:25.435367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rec8 has been classified as Green List (High Evidence).",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:33:06.359345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35172124, 31479588; Phenotypes: Infertility disorder, MONDO:0005047, REC8-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:32:20.422755+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REC8 as ready",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:32:20.408929+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rec8 has been classified as Green List (High Evidence).",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:32:17.978752+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REC8 were changed from Primary ovarian insufficiency to Infertility disorder, MONDO:0005047, REC8-related",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:32:05.520332+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: REC8 were set to 34794894; 15515002; 34707299",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:31:46.984245+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REC8 as Green List (high evidence)",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:31:46.973647+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rec8 has been classified as Green List (High Evidence).",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T18:31:37.934391+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35172124, 31479588; Phenotypes: Infertility disorder, MONDO:0005047, REC8-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "REC8",
"entity_type": "gene"
},
{
"created": "2026-03-03T16:07:50.496351+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.55",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region FOXF1 upstream regulatory region from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-03T16:07:50.435868+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.55",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: FOXF1 upstream regulatory region was added\nRegion: FOXF1 upstream regulatory region was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for Region: FOXF1 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: FOXF1 upstream regulatory region were set to PMID: 27822317, 27071622, 23034409, 24842713\nPhenotypes for Region: FOXF1 upstream regulatory region were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380",
"entity_name": "FOXF1 upstream regulatory region",
"entity_type": "region"
},
{
"created": "2026-03-03T16:06:56.899402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4477",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Variant type for FOXF1 upstream regulatory region was changed from small to cnv_loss.",
"entity_name": "FOXF1 upstream regulatory region",
"entity_type": "region"
},
{
"created": "2026-03-03T16:05:54.961027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4476",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: FOXF1 upstream regulatory region was added\nRegion: FOXF1 upstream regulatory region was added to Mendeliome. Sources: Literature\nMode of inheritance for Region: FOXF1 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: FOXF1 upstream regulatory region were set to PMID: 27822317, 27071622, 23034409, 24842713\nPhenotypes for Region: FOXF1 upstream regulatory region were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380\nReview for Region: FOXF1 upstream regulatory region was set to GREEN\nAdded comment: FOXF1 is a transcription factor involved in maintaining endothelial barrier through activation of S1P/S1PR1 signalling for integrity of adherens junctions. \r\n\r\nAn approximately 60kb enhancer 270kb upstream of the FOXF1 gene has been identified with copy number changes in this region seen in over 10 affected individuals with biopsy confirmed alveolar capillary dysplasia with misalignment of pulmonary veins. \r\nInterestingly a large number of the deletions identified were de novo on the maternal allele. \r\n\r\nDeletion size ranged between 104kb to 2625kb, coordinates from this entry are from a minimal overlapping region. \r\n\r\nThe enhancer region has binding motifs for a number of transcription factors, as well as this there is a non coding RNA (LINC01081) within the region that is thought to play a role with regulation of FOXF1 transcription. Supportive functional studies with RNAi-mediated knock-down of LINC01081 in normal fetal lung fibroblasts showed that this lncRNA positively regulates FOXF1 transcript level. \nSources: Literature",
"entity_name": "FOXF1 upstream regulatory region",
"entity_type": "region"
},
{
"created": "2026-03-03T12:07:42.004338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4475",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: SLC13A1 were set to 36175384",
"entity_name": "SLC13A1",
"entity_type": "gene"
}
]
}