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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=289",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=287",
"results": [
{
"created": "2025-03-05T17:14:35.696824+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, 614727 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2025-03-05T17:03:34.047527+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30445423, 19185281; Phenotypes: Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:49:02.040368+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26499107; Phenotypes: Niemann-Pick disease, type A, 257200 (3), Niemann-Pick disease, type B, 607616 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:46:17.961631+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM #609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:30:49.004748+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "edited their review of gene: SLC25A13: Changed rating: GREEN",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:30:10.545767+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326334, 11898126, 15154114, 17101918, 16086185; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352 (3); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:25:39.141907+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26866239, 22829427, 19836010; Phenotypes: Cutis laxa, autosomal recessive, type IC, #613177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:23:05.120726+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: GNA13.",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:22:46.728487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: GNA13.",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:21:24.403904+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX39B as ready",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:21:24.382551+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx39b has been classified as Green List (High Evidence).",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:21:19.121876+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX39B as Green List (high evidence)",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:21:19.103294+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx39b has been classified as Green List (High Evidence).",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:20:48.152772+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX39B as ready",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:20:48.127226+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx39b has been classified as Green List (High Evidence).",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:20:43.057803+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX39B as Green List (high evidence)",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:20:43.048278+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx39b has been classified as Green List (High Evidence).",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:20:11.473069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX39B as ready",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:20:11.462992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx39b has been classified as Green List (High Evidence).",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:19:47.247344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX39B as Green List (high evidence)",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:19:47.237326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx39b has been classified as Green List (High Evidence).",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:18:56.053080+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDO1 as ready",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:18:56.045142+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:18:52.168715+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDO1 as Amber List (moderate evidence)",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:18:52.153646+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:18:30.234903+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDO1 was added\ngene: CDO1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CDO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDO1 were set to 39949058\nPhenotypes for gene: CDO1 were set to Syndromic disease, MONDO:0002254, CDO1-related\nReview for gene: CDO1 was set to AMBER\nAdded comment: Three children with overlapping features including severe microcephaly and DD/ID. Three missense de novo variants were identified and were clustered around exon 3 and exon 4. The three missense variants identified p.(His147Arg, Ala131Val, Glu143Lys) are all absent from gnomAD v4.1. \nSources: Literature",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:17:42.008237+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20206331, 26976849, 29053833, 25462087; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, 211530 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:16:58.190131+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDO1 as ready",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:16:58.182675+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:16:28.602218+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDO1 as Amber List (moderate evidence)",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:16:28.595518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:16:03.697804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDO1 was added\ngene: CDO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CDO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDO1 were set to 39949058\nPhenotypes for gene: CDO1 were set to Syndromic disease, MONDO:0002254, CDO1-related\nReview for gene: CDO1 was set to AMBER\nAdded comment: Three children with overlapping features including severe microcephaly and DD/ID. Three missense de novo variants were identified and were clustered around exon 3 and exon 4. The three missense variants identified p.(His147Arg, Ala131Val, Glu143Lys) are all absent from gnomAD v4.1. \nSources: Literature",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:14:00.887845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDO1 as ready",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:14:00.876765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:13:03.357308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDO1 were changed from Neurological Disorder MONDO:0100545 to Syndromic disease, MONDO:0002254, CDO1-related",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:12:44.520743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDO1 as Amber List (moderate evidence)",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:12:44.513127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:12:29.526159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease, MONDO:0002254, CDO1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:10:25.833652+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHACTR4 as ready",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:10:25.823859+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phactr4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:10:19.700713+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHACTR4 as Amber List (moderate evidence)",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:10:19.690058+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phactr4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:09:54.313940+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHACTR4 was added\ngene: PHACTR4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PHACTR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHACTR4 were set to 40012205\nPhenotypes for gene: PHACTR4 were set to Syndromic disease, MONDO:0002254, PHACTR4-related\nReview for gene: PHACTR4 was set to AMBER\nAdded comment: Two individuals with syndromic disease and de novo missense variants reported together with aggregate information on additional individuals. \nSources: Literature",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:09:48.977884+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATF6 as ready",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:09:48.969351+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atf6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:09:34.924721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2348",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ATF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 39570676; Phenotypes: hearing loss disorder MONDO:0005365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:09:04.128198+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATF6 as Amber List (moderate evidence)",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:09:04.121301+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atf6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:08:51.398209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHACTR4 as ready",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:08:51.387181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phactr4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:08:38.048934+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATF6 was added\ngene: ATF6 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATF6 were set to 39570676\nPhenotypes for gene: ATF6 were set to ATF6-related retinopathy MONDO:0100447\nReview for gene: ATF6 was set to AMBER\nAdded comment: The gene-disease association with retinopathy & achromatopsia is well-established. Currently, 2 families have been reported with deafness.\r\nHomozygous missense (c.970C>T, p.Arg324Cys) segregating with achromatopsia and deafness in 3 siblings in a single family. Proband underwent testing with a 356 gene hearing loss panel with no alternative cause for the deafness identified. Another homozygous missense variant (c.1699T>A, p.Tyr567Asn) was identified in an unrelated proband with achromatopsia and deafness. Other testing of deafness genes was not conducted in this proband. Also, supporting null mouse model. \nSources: Literature",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:08:13.674029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHACTR4 were changed from Abnormality in embryonic development, MONDO:0019755 to Syndromic disease, MONDO:0002254, PHACTR4-related",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:07:53.850814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHACTR4 as Amber List (moderate evidence)",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:07:53.844445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phactr4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:07:38.240471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHACTR4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease, MONDO:0002254, PHACTR4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:04:33.174800+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C14orf80.",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:04:18.146821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C14orf80.",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:04:02.332733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C14orf80 as ready",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:04:02.325480+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:03:55.701675+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C14orf80 as Amber List (moderate evidence)",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:03:55.694895+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:03:29.344934+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C14orf80 was added\ngene: C14orf80 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nnew gene name tags were added to gene: C14orf80.\nMode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C14orf80 were set to 39979680; 38252227\nPhenotypes for gene: C14orf80 were set to Primary microcephaly, MONDO:0016660\nReview for gene: C14orf80 was set to AMBER\nAdded comment: New HGNC approved Gene Name: TEDC1\r\nOnly two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous with hmz missense.\r\n\r\nPMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].\r\nHomozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease.\r\n\r\nPMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly. \nSources: Literature",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:03:10.212167+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38192829, 19344874, 25899461, 25669657, 29625025; Phenotypes: Dental anomalies and short stature, MIM #601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:01:43.101792+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C14orf80 as ready",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:01:43.093545+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:01:39.170059+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C14orf80 as Amber List (moderate evidence)",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:01:39.154978+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T16:01:17.178795+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C14orf80 was added\ngene: C14orf80 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C14orf80 were set to 39979680; 38252227\nPhenotypes for gene: C14orf80 were set to Primary microcephaly, MONDO:0016660\nReview for gene: C14orf80 was set to AMBER\nAdded comment: New HGNC approved Gene Name: TEDC1\r\nOnly two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous with hmz missense variant.\r\n\r\nPMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].\r\nHomozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease.\r\n\r\nPMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly. \nSources: Literature",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T15:59:27.742205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C14orf80 as ready",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T15:59:27.731924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T15:59:19.261150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C14orf80 as Amber List (moderate evidence)",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T15:59:19.254629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-05T15:29:09.483548+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512, 20301732; Phenotypes: Donnai-Barrow syndrome, MIM #222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2025-03-05T15:17:34.109485+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23313374, 30885509, 23967498; Phenotypes: Urofacial syndrome 2, MIM #615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2025-03-05T14:59:43.791924+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24013853, 25105227, 26932191; Phenotypes: Poretti-Boltshauser syndrome, MIM #615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2025-03-05T14:32:11.573464+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38484105, 15486829; Phenotypes: Isovaleric acidemia, MIM #243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:28:32.320893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2345",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005439; Phenotypes: tooth agenesis, selective, 1 MONDO:0007129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:07:46.370711+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPOUT1 as ready",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:07:46.359378+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:07:14.838144+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPOUT1 as Green List (high evidence)",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:07:14.828136+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:54.950163+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPOUT1 as Green List (high evidence)",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:54.918343+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:36.449006+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPOUT1 as Green List (high evidence)",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:36.441284+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:30.594414+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPOUT1 as ready",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:30.586455+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:26.307480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2345",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPOUT1 as ready",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:26.298556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2345",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:23.094690+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPOUT1 as ready",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:23.083285+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:21.266156+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPOUT1 as Green List (high evidence)",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:21.255787+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:07.537518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPOUT1 as Green List (high evidence)",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:07.521271+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:06.694068+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPOUT1 was added\ngene: SPOUT1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPOUT1 were set to 39962046\nPhenotypes for gene: SPOUT1 were set to complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related\nReview for gene: SPOUT1 was set to GREEN\nAdded comment: Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature). \nSources: Literature",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:03.252050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2345",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPOUT1 as Green List (high evidence)",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:06:03.238630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2345",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spout1 has been classified as Green List (High Evidence).",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:05:56.092317+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPOUT1 was added\ngene: SPOUT1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPOUT1 were set to 39962046\nPhenotypes for gene: SPOUT1 were set to complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related\nReview for gene: SPOUT1 was set to GREEN\nAdded comment: Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature). \nSources: Literature",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T13:05:41.091046+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPOUT1 was added\ngene: SPOUT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPOUT1 were set to 39962046\nPhenotypes for gene: SPOUT1 were set to complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related\nReview for gene: SPOUT1 was set to GREEN\nAdded comment: Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature). \nSources: Literature",
"entity_name": "SPOUT1",
"entity_type": "gene"
}
]
}