{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=289","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}