{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=156","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=154","results":[{"created":"2025-10-06T21:40:56.279646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jph2 has been classified as Green List (High Evidence).","entity_name":"JPH2","entity_type":"gene"},{"created":"2025-10-06T21:38:21.737764+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3300","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPD as ready","entity_name":"CPD","entity_type":"gene"},{"created":"2025-10-06T21:38:21.727855+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpd has been classified as Green List (High Evidence).","entity_name":"CPD","entity_type":"gene"},{"created":"2025-10-06T21:38:13.549469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3300","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CPD as Green List (high evidence)","entity_name":"CPD","entity_type":"gene"},{"created":"2025-10-06T21:38:13.539743+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpd has been classified as Green List (High Evidence).","entity_name":"CPD","entity_type":"gene"},{"created":"2025-10-06T21:22:45.905155+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DMRT2 as ready","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T21:22:45.895434+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T21:22:04.900852+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T21:22:04.894244+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:43:58.758703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3299","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THAP4 as ready","entity_name":"THAP4","entity_type":"gene"},{"created":"2025-10-06T17:43:58.751293+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3299","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thap4 has been classified as Red List (Low Evidence).","entity_name":"THAP4","entity_type":"gene"},{"created":"2025-10-06T17:43:49.839001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3299","user_name":"Zornitza Stark","item_type":"entity","text":"gene: THAP4 was added\ngene: THAP4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: THAP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THAP4 were set to 40949908\nPhenotypes for gene: THAP4 were set to Congenital pulmonary airway malformation, MONDO:0016580, THAP4-related\nReview for gene: THAP4 was set to RED\nAdded comment: Single individual with a missense variant reported in a CPAM cohort. \nSources: Literature","entity_name":"THAP4","entity_type":"gene"},{"created":"2025-10-06T17:42:27.694591+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.433","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THAP4 as ready","entity_name":"THAP4","entity_type":"gene"},{"created":"2025-10-06T17:42:27.681416+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.433","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thap4 has been classified as Red List (Low Evidence).","entity_name":"THAP4","entity_type":"gene"},{"created":"2025-10-06T17:42:19.643718+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.433","user_name":"Zornitza Stark","item_type":"entity","text":"gene: THAP4 was added\ngene: THAP4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: THAP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THAP4 were set to 40949908\nPhenotypes for gene: THAP4 were set to Congenital pulmonary airway malformation, MONDO:0016580, THAP4-related\nReview for gene: THAP4 was set to RED\nAdded comment: Single individual reported with missense variant in a CPAM cohort. \nSources: Literature","entity_name":"THAP4","entity_type":"gene"},{"created":"2025-10-06T17:37:49.334158+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH1B1 as ready","entity_name":"ALDH1B1","entity_type":"gene"},{"created":"2025-10-06T17:37:49.327180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh1b1 has been classified as Red List (Low Evidence).","entity_name":"ALDH1B1","entity_type":"gene"},{"created":"2025-10-06T17:37:39.441856+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3298","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH1B1 was added\ngene: ALDH1B1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ALDH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALDH1B1 were set to 40988636\nPhenotypes for gene: ALDH1B1 were set to Congenital pulmonary airway malformation, MONDO:0016580, ALDH1B1-related\nReview for gene: ALDH1B1 was set to RED\nAdded comment: Single individual with missense variant reported in a CPAM cohort. \nSources: Literature","entity_name":"ALDH1B1","entity_type":"gene"},{"created":"2025-10-06T17:36:27.708498+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.432","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH1B1 as ready","entity_name":"ALDH1B1","entity_type":"gene"},{"created":"2025-10-06T17:36:27.693651+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.432","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh1b1 has been classified as Red List (Low Evidence).","entity_name":"ALDH1B1","entity_type":"gene"},{"created":"2025-10-06T17:36:17.317287+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.432","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH1B1 was added\ngene: ALDH1B1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ALDH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALDH1B1 were set to 40988636\nPhenotypes for gene: ALDH1B1 were set to Congenital pulmonary airway malformation, MONDO:0016580, ALDH1B1-related\nReview for gene: ALDH1B1 was set to RED\nAdded comment: Missense variant reported in a CPAM cohort. \nSources: Literature","entity_name":"ALDH1B1","entity_type":"gene"},{"created":"2025-10-06T17:28:57.350372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3297","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUC3A as ready","entity_name":"MUC3A","entity_type":"gene"},{"created":"2025-10-06T17:28:57.340279+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: muc3a has been classified as Red List (Low Evidence).","entity_name":"MUC3A","entity_type":"gene"},{"created":"2025-10-06T17:28:49.348238+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3297","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUC3A was added\ngene: MUC3A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MUC3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MUC3A were set to 40949908\nPhenotypes for gene: MUC3A were set to Congenital pulmonary airway malformation, MONDO:0016580, MUC3A-related\nReview for gene: MUC3A was set to RED\nAdded comment: Three individuals with LoF variants identified in a CPAM cohort. However, all three variants are present in gnomAD, one of them in over 1500 individuals. \nSources: Literature","entity_name":"MUC3A","entity_type":"gene"},{"created":"2025-10-06T17:28:14.777553+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.431","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MUC3A were set to ","entity_name":"MUC3A","entity_type":"gene"},{"created":"2025-10-06T17:28:03.023631+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.430","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MUC3A: Changed publications: 40949908","entity_name":"MUC3A","entity_type":"gene"},{"created":"2025-10-06T17:26:57.202290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF2I as ready","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T17:26:57.192230+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2i has been classified as Green List (High Evidence).","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T17:26:51.841991+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.430","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUC3A as ready","entity_name":"MUC3A","entity_type":"gene"},{"created":"2025-10-06T17:26:51.834597+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: muc3a has been classified as Red List (Low Evidence).","entity_name":"MUC3A","entity_type":"gene"},{"created":"2025-10-06T17:26:44.242709+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.430","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUC3A was added\ngene: MUC3A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MUC3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MUC3A were set to Congenital pulmonary airway malformation, MONDO:0016580, MUC3A-related\nReview for gene: MUC3A was set to RED\nAdded comment: Three individuals with LoF variants identified in a CPAM cohort. However, all three variants are present in gnomAD, one of them in over 1500 individuals. \nSources: Literature","entity_name":"MUC3A","entity_type":"gene"},{"created":"2025-10-06T17:11:28.739768+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.429","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Green List (high evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:11:28.732407+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.429","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Green List (High Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:11:06.184880+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.333","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Green List (high evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:11:06.175304+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.333","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Green List (High Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:10:44.799073+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.332","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: DMRT2: Added comment: PMID: 29681102 Bouman et al 2018 paper SH3PXD2B reviewed - not coding in canonical transcript, 4 homs in gnomAD v4. In summary, 2 unrelated individuals with severe skeletal dysplasia and other extra-skeletal features and one mouse model with severe skeletal dysplasia supporting Green classification.; Changed rating: GREEN","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:10:09.975037+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.155","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Green List (high evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:10:09.965589+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.155","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Green List (High Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:09:07.891266+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.237","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Green List (high evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:09:07.881329+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.237","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Green List (High Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:08:43.969401+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.236","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: DMRT2: Added comment: PMID: 29681102 Bouman et al 2018 paper SH3PXD2B reviewed - not coding in canonical transcript, 4 homs in gnomAD v4. In summary, 2 unrelated individuals with severe skeletal dysplasia and other extra-skeletal features and one mouse model with severe skeletal dysplasia supporting Green classification.; Changed rating: GREEN","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:07:23.372944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3296","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: DMRT2: Added comment: PMID: 29681102 Bouman et al 2018 paper SH3PXD2B reviewed - not coding in canonical transcript, 4 homs in gnomAD v4. In summary, 2 unrelated individuals with severe skeletal dysplasia and other extra-skeletal features and one mouse model with severe skeletal dysplasia supporting Green classification.; Changed rating: GREEN","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:05:43.318740+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3296","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \r\nSources: Literature; to: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \r\nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:05:29.188292+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3296","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Green List (high evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T17:05:29.181057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3296","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Green List (High Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:55:29.298402+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.154","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:55:29.292021+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.154","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:55:14.102095+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.153","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:55:14.093598+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.153","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:55:05.334370+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.462","user_name":"Krithika Murali","item_type":"entity","text":"gene: DMRT2 was added\ngene: DMRT2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: Overlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. Other overlapping features observed in the 2 reported patients include congenital heart defects and CAKUT. \nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:55:03.116322+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.332","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:55:03.103351+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.332","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:54:58.378162+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.152","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: DMRT2 as ready","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:54:58.368820+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.152","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Red List (Low Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:54:49.169931+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.462","user_name":"Krithika Murali","item_type":"entity","text":"gene: DMRT2 was added\ngene: DMRT2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nAdded comment: Overlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. Other overlapping features observed in the 2 reported patients include congenital heart defects and CAKUT. \nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:53:27.161687+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.152","user_name":"Krithika Murali","item_type":"entity","text":"gene: DMRT2 was added\ngene: DMRT2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: Overlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. Other overlapping features observed in the 2 reported patients include congenital heart defects and CAKUT (non-functioning kidney at birth and bilateral duplicated kidney). \nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:49:44.915607+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.236","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:49:44.906411+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.236","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:49:12.266134+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.235","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:49:12.256383+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.235","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:49:07.528471+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.234","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: DMRT2 as ready","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:49:07.520303+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.234","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Red List (Low Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:48:53.182863+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.234","user_name":"Krithika Murali","item_type":"entity","text":"gene: DMRT2 was added\ngene: DMRT2 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency. \nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:48:35.632564+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.331","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:48:35.625919+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.331","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:48:30.038239+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.330","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: DMRT2 as ready","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:48:30.022122+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.330","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Red List (Low Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:47:45.944670+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.330","user_name":"Krithika Murali","item_type":"entity","text":"gene: DMRT2 was added\ngene: DMRT2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:42:27.873920+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.428","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: DMRT2 as ready","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:42:27.845930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.428","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:42:26.621074+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.428","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:42:26.610943+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.428","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:42:16.840551+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.427","user_name":"Krithika Murali","item_type":"entity","text":"gene: DMRT2 was added\ngene: DMRT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: Severe skeletal manifestations with respiratory insufficiency is the overlapping feature between the 2 unrelated patients reported and mouse model. \r\n\r\nPrenatal features included severe polyhydramnios, increased nuchal translucency, IUGR, fetal skeletal dysplasia. \nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:41:19.803796+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3295","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Fran Ter Haar syndrome which is also known to have skeletal features. The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \nSources: Literature; to: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \r\nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:33:14.148781+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.13","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:33:14.140875+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.13","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:33:12.185284+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.12","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: DMRT2 as ready","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:33:12.176783+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.12","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Red List (Low Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:32:52.055986+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.12","user_name":"Krithika Murali","item_type":"entity","text":"gene: DMRT2 was added\ngene: DMRT2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: Severe skeletal manifestations is the overlapping feature between the 2 unrelated patients reported and the mouse model. PMID: 41014130 report one of the patients also had absence of TRECs suggestive of SCID on NBS wtih thymic aplasia. Laboratory tests showed profound lyphopenia, near absence of CD3+ T cells, low CD8+ and CD4+ T cells, expansion of B-cells and NK cells with elevation of several immunoglobulins. Patient developed severe CMV pneumonitis and bacterial infections leading to death at 3 months of age. \r\n\r\nHave included as Amber rather than Red for immunodeficiency given the rarity of cases overall for this skeletal dysplasia. \nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:21:01.761592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3295","user_name":"Krithika Murali","item_type":"entity","text":"Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to skeletal dysplasia MONDO:0018230,DMRT2-related","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:20:04.716144+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3294","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: DMRT2 as ready","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:20:04.706202+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3294","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:19:55.175572+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3294","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DMRT2 as Amber List (moderate evidence)","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:19:55.165731+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3294","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dmrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T16:19:36.815411+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3293","user_name":"Krithika Murali","item_type":"entity","text":"gene: DMRT2 was added\ngene: DMRT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Fran Ter Haar syndrome which is also known to have skeletal features. The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \nSources: Literature","entity_name":"DMRT2","entity_type":"gene"},{"created":"2025-10-06T15:41:29.175897+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3292","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GTF2I as Green List (high evidence)","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T15:41:29.169085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2i has been classified as Green List (High Evidence).","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T15:41:16.129083+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3291","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GTF2I was added\ngene: GTF2I was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GTF2I was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GTF2I were set to 40962490\nPhenotypes for gene: GTF2I were set to Neurodevelopmental disorder MONDO:0700092, GTF2I-related\nReview for gene: GTF2I was set to GREEN\nAdded comment: 7 individuals reported with de novo variants in this gene and a neurodevelopmental disorder. All but one of the variants are absent from gnomAD v4 (one het present for the indel variant). \nSources: Literature","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T15:39:12.861603+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.334","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF2I were changed from  to Neurodevelopmental disorder MONDO:0700092, GTF2I-related","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T15:38:42.944185+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.333","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GTF2I were set to ","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T15:38:19.222735+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.332","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GTF2I was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T15:37:52.435876+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.331","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GTF2I as Green List (high evidence)","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T15:37:52.424273+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2i has been classified as Green List (High Evidence).","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T15:37:22.741504+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.330","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GTF2I: Added comment: 7 individuals reported with de novo variants in this gene and a neurodevelopmental disorder. All but one of the variants are absent from gnomAD v4 (one het present for the indel variant).; Changed rating: GREEN; Changed publications: 40962490; Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF2I-relatedder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GTF2I","entity_type":"gene"},{"created":"2025-10-06T15:31:06.040874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BBOX1 as ready","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:31:06.032710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbox1 has been classified as Amber List (Moderate Evidence).","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:30:52.816968+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBOX1 as Amber List (moderate evidence)","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:30:52.809798+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbox1 has been classified as Amber List (Moderate Evidence).","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:30:37.178681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3289","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBOX1 was added\ngene: BBOX1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BBOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBOX1 were set to 41022783\nPhenotypes for gene: BBOX1 were set to Carnitine deficiency, MONDO:0017716, BBOX1-related\nReview for gene: BBOX1 was set to AMBER\nAdded comment: Three individuals from two unrelated families reported, presenting with myopathy, neurodevelopmental delay, and later-onset psychiatric manifestations. C. elegans knockout and patient-variant models show embryonic lethality rescued by L‑carnitine supplementation \nSources: Literature","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:29:14.166782+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BBOX1 as ready","entity_name":"BBOX1","entity_type":"gene"}]}