{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=649","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=647","results":[{"created":"2022-12-30T16:55:21.739781+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1813","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALM was added\ngene: GALM was added to gNBS. Sources: Expert Review\ntreatable, metabolic tags were added to gene: GALM.\nMode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALM were set to Galactosemia IV MIM#618881\nReview for gene: GALM was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: galactose/lactose-restricted diet.\r\n\r\nNon-genetic confirmatory testing: galactose level. \nSources: Expert Review","entity_name":"GALM","entity_type":"gene"},{"created":"2022-12-30T16:53:17.957527+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1812","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCH1 as ready","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-12-30T16:53:17.943726+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1812","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gch1 has been classified as Green List (High Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-12-30T16:53:14.555771+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1812","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCH1 were changed from Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM#\t128230; Dystonia, dopa-responsive to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-12-30T16:53:00.370249+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1811","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GCH1 were set to ","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-12-30T16:52:45.890427+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1810","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-12-30T16:52:34.873440+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1809","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GCH1 as Green List (high evidence)","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-12-30T16:52:34.850284+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1809","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gch1 has been classified as Green List (High Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-12-30T16:52:24.776450+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1808","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GCH1.\nTag metabolic tag was added to gene: GCH1.","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-12-30T16:52:10.478620+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1808","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-12-30T13:42:41.164713+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1807","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMS2 as ready","entity_name":"PMS2","entity_type":"gene"},{"created":"2022-12-30T13:42:41.151752+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1807","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pms2 has been classified as Amber List (Moderate Evidence).","entity_name":"PMS2","entity_type":"gene"},{"created":"2022-12-30T13:42:37.846561+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1807","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PMS2 were changed from Lynch syndrome to Mismatch repair cancer syndrome 4, MIM# 619101","entity_name":"PMS2","entity_type":"gene"},{"created":"2022-12-30T13:42:26.032919+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1806","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PMS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMS2","entity_type":"gene"},{"created":"2022-12-30T13:42:16.235285+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1805","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMS2 as Amber List (moderate evidence)","entity_name":"PMS2","entity_type":"gene"},{"created":"2022-12-30T13:42:16.220710+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1805","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pms2 has been classified as Amber List (Moderate Evidence).","entity_name":"PMS2","entity_type":"gene"},{"created":"2022-12-30T13:42:05.932324+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1804","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PMS2.\nTag cancer tag was added to gene: PMS2.\nTag treatable tag was added to gene: PMS2.","entity_name":"PMS2","entity_type":"gene"},{"created":"2022-12-30T13:41:48.909966+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1804","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome 4, MIM# 619101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMS2","entity_type":"gene"},{"created":"2022-12-30T13:40:51.206277+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1804","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSH6 as ready","entity_name":"MSH6","entity_type":"gene"},{"created":"2022-12-30T13:40:51.192191+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1804","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msh6 has been classified as Amber List (Moderate Evidence).","entity_name":"MSH6","entity_type":"gene"},{"created":"2022-12-30T13:40:46.666787+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1804","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSH6 were changed from Lynch syndrome to Mismatch repair cancer syndrome 3, MIM# 619097","entity_name":"MSH6","entity_type":"gene"},{"created":"2022-12-30T13:40:34.395093+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1803","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSH6","entity_type":"gene"},{"created":"2022-12-30T13:40:23.703762+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1802","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MSH6 as Amber List (moderate evidence)","entity_name":"MSH6","entity_type":"gene"},{"created":"2022-12-30T13:40:23.692144+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1802","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msh6 has been classified as Amber List (Moderate Evidence).","entity_name":"MSH6","entity_type":"gene"},{"created":"2022-12-30T13:40:13.427479+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: MSH6.\nTag cancer tag was added to gene: MSH6.\nTag treatable tag was added to gene: MSH6.","entity_name":"MSH6","entity_type":"gene"},{"created":"2022-12-30T13:39:57.525608+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome 3, MIM# 619097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSH6","entity_type":"gene"},{"created":"2022-12-30T13:39:41.642434+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Note mono-allelic variants are associated with adult-onset cancer risk.\r\n\r\nMMRCS rated as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nThe hallmark of MMRCS is early onset cancer, most often in childhood or young adulthood. The median age of onset of the first tumor is 7.5 years, with a wide range observed (0.4-39 years). A large portion (up to 40%) of patients develop metachronous second malignancies. The median survival after diagnosis of the primary tumor is less than 30 months. Prognosis depends on the possibility of complete resection, making early detection paramount. It is unclear what tumor spectrum will emerge among adults with MMRCS. Brain tumors are frequent and often diagnosed in the first decade of life. The rate of progression appears to be rapid in the brain tumors. The median age at diagnosis of brain tumors is 9 years (range, 2-40 years). Brain tumors are by far the most common cause of death. Colonic adenomatous oligopolyposis typically is diagnosed between 5 and 10 years of age. The progression of adenomas to malignancy in MMRCS is the most rapid of any inherited colorectal cancer syndrome. Among MMRCS patients presenting with colorectal cancer (CRC), the median age at diagnosis was 16 years (range, 8-48 years) with more than half of patients classified as pediatric-onset CRC. The age of onset of small-bowel adenomas is later; they typically develop in the second decade of life. The median age at diagnosis of small-bowel cancer was 28 years, with a range of 11-42 years. The lifetime risk of gastrointestinal cancer among MMRCS patients is the highest reported of all gastrointestinal cancer predisposition syndromes as a function of age. The median age at diagnosis of hematologic malignancy is 6.6 years. Endometrial cancer has been diagnosed between 19 and 44 years. The age at diagnosis of urinary tract tumors has ranged from 10 to 22 years.\r\n\r\nThe management of MMRCS is based on the current estimates of neoplasia risk and the early age of onset for the cancers, which have led to tentative guidelines for the management of these patients. The age at which to begin surveillance varies by guideline and is represented below as age ranges. In patients with MMRCS, the following surveillance is suggested:\r\n \r\n•Screening for CRC by colonoscopy is recommended annually beginning at age 6 to 8 years. Once polyps are identified, colonoscopy every 6 months is recommended.\r\n•Annual surveillance for small-bowel cancer by upper endoscopy and video capsule endoscopy is suggested beginning at 8 to 10 years of age. Monitoring of hemoglobin levels every 6 months also is suggested, beginning at 8 years of age.\r\n•Surveillance for brain tumors by brain MRI every 6 to 12 months is suggested starting at the time of diagnosis even in the first year of life to age 2 years.\r\n•Currently, no proven surveillance modalities for leukemia or lymphoma have been identified. Complete blood count to screen for leukemia is suggested every 6 months beginning at 1 year of age. Clinical examinations and abdominal ultrasounds to screen for lymphoma every 6 months may be considered by the treating physician.\r\n•For individuals with a uterus, surveillance for endometrial cancer is suggested by transvaginal ultrasound, pelvic examination, and endometrial sampling annually starting at age 20 years.\r\n•Surveillance for cancer of the urinary tract is suggested, with annual urinalysis starting at age 10 to 20 years.\r\n•To screen for other types of tumors, whole-body MRI could be considered once a year starting at 6 years of age or when anesthesia is not needed. This method should not replace the need for ultrasound and brain MRI.\r\n\r\nEstimated penetrance in MMRCS:\r\n \r\n•50% develop small-bowel adenomas\r\n•>90% develop colorectal adenomas\r\n•59 to 70% develop colorectal cancer\r\n•58 to 70% develop high-grade brain tumours\r\n•20-40% develop lymphoma\r\n•10-40% develop leukemia\r\n•10 to 18% develop small-bowel cancer\r\n•<10% develop endometrial cancer\r\n•<10% develop urinary tract cancer\r\n \r\n•<10% develop cancer of other sites; to: Note mono-allelic variants are associated with adult-onset cancer risk.\r\n\r\nMMRCS rated as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nThe hallmark of MMRCS is early onset cancer, most often in childhood or young adulthood. The median age of onset of the first tumor is 7.5 years, with a wide range observed (0.4-39 years). A large portion (up to 40%) of patients develop metachronous second malignancies. The median survival after diagnosis of the primary tumor is less than 30 months. Prognosis depends on the possibility of complete resection, making early detection paramount. It is unclear what tumor spectrum will emerge among adults with MMRCS. Brain tumors are frequent and often diagnosed in the first decade of life. The rate of progression appears to be rapid in the brain tumors. The median age at diagnosis of brain tumors is 9 years (range, 2-40 years). Brain tumors are by far the most common cause of death. Colonic adenomatous oligopolyposis typically is diagnosed between 5 and 10 years of age. The progression of adenomas to malignancy in MMRCS is the most rapid of any inherited colorectal cancer syndrome. Among MMRCS patients presenting with colorectal cancer (CRC), the median age at diagnosis was 16 years (range, 8-48 years) with more than half of patients classified as pediatric-onset CRC. The age of onset of small-bowel adenomas is later; they typically develop in the second decade of life. The median age at diagnosis of small-bowel cancer was 28 years, with a range of 11-42 years. The lifetime risk of gastrointestinal cancer among MMRCS patients is the highest reported of all gastrointestinal cancer predisposition syndromes as a function of age. The median age at diagnosis of hematologic malignancy is 6.6 years. Endometrial cancer has been diagnosed between 19 and 44 years. The age at diagnosis of urinary tract tumors has ranged from 10 to 22 years.\r\n\r\nThe management of MMRCS is based on the current estimates of neoplasia risk and the early age of onset for the cancers, which have led to tentative guidelines for the management of these patients. The age at which to begin surveillance varies by guideline and is represented below as age ranges. In patients with MMRCS, the following surveillance is suggested:\r\n \r\n•Screening for CRC by colonoscopy is recommended annually beginning at age 6 to 8 years. Once polyps are identified, colonoscopy every 6 months is recommended.\r\n•Annual surveillance for small-bowel cancer by upper endoscopy and video capsule endoscopy is suggested beginning at 8 to 10 years of age. Monitoring of hemoglobin levels every 6 months also is suggested, beginning at 8 years of age.\r\n•Surveillance for brain tumors by brain MRI every 6 to 12 months is suggested starting at the time of diagnosis even in the first year of life to age 2 years.\r\n•Currently, no proven surveillance modalities for leukemia or lymphoma have been identified. Complete blood count to screen for leukemia is suggested every 6 months beginning at 1 year of age. Clinical examinations and abdominal ultrasounds to screen for lymphoma every 6 months may be considered by the treating physician.\r\n•For individuals with a uterus, surveillance for endometrial cancer is suggested by transvaginal ultrasound, pelvic examination, and endometrial sampling annually starting at age 20 years.\r\n•Surveillance for cancer of the urinary tract is suggested, with annual urinalysis starting at age 10 to 20 years.\r\n•To screen for other types of tumors, whole-body MRI could be considered once a year starting at 6 years of age or when anesthesia is not needed. This method should not replace the need for ultrasound and brain MRI.\r\n\r\nEstimated penetrance in MMRCS:\r\n \r\n•50% develop small-bowel adenomas\r\n•>90% develop colorectal adenomas\r\n•59 to 70% develop colorectal cancer\r\n•58 to 70% develop high-grade brain tumours\r\n•20-40% develop lymphoma\r\n•10-40% develop leukemia\r\n•10 to 18% develop small-bowel cancer\r\n•<10% develop endometrial cancer\r\n•<10% develop urinary tract cancer\r\n•<10% develop cancer of other sites","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-12-30T13:39:20.311193+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLH1 as ready","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-12-30T13:39:20.283417+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlh1 has been classified as Amber List (Moderate Evidence).","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-12-30T13:39:14.504188+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLH1 were changed from Lynch syndrome to Mismatch repair cancer syndrome 1, MIM# 276300","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-12-30T13:39:02.155071+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1800","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MLH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-12-30T13:38:55.454669+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1799","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: TMPRSS3 as ready","entity_name":"TMPRSS3","entity_type":"gene"},{"created":"2022-12-30T13:38:55.442545+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1799","user_name":"Seb Lunke","item_type":"entity","text":"Gene: tmprss3 has been classified as Green List (High Evidence).","entity_name":"TMPRSS3","entity_type":"gene"},{"created":"2022-12-30T13:38:49.924454+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1799","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: TMPRSS3 were changed from Deafness, autosomal recessive to deafness, autosomal recessive MIM#601072","entity_name":"TMPRSS3","entity_type":"gene"},{"created":"2022-12-30T13:38:39.906215+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1798","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: TMPRSS3 were set to ","entity_name":"TMPRSS3","entity_type":"gene"},{"created":"2022-12-30T13:38:10.051834+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1797","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSH2 as ready","entity_name":"MSH2","entity_type":"gene"},{"created":"2022-12-30T13:38:10.031569+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1797","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msh2 has been classified as Amber List (Moderate Evidence).","entity_name":"MSH2","entity_type":"gene"},{"created":"2022-12-30T13:38:06.936998+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1797","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSH2 were changed from Lynch syndrome to Mismatch repair cancer syndrome 2, MIM# 619096","entity_name":"MSH2","entity_type":"gene"},{"created":"2022-12-30T13:37:56.727822+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1796","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MLH1 as Amber List (moderate evidence)","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-12-30T13:37:56.714817+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1796","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlh1 has been classified as Amber List (Moderate Evidence).","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-12-30T13:37:44.801063+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1795","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSH2","entity_type":"gene"},{"created":"2022-12-30T13:37:34.043515+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1794","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MSH2 as Amber List (moderate evidence)","entity_name":"MSH2","entity_type":"gene"},{"created":"2022-12-30T13:37:34.028521+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1794","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msh2 has been classified as Amber List (Moderate Evidence).","entity_name":"MSH2","entity_type":"gene"},{"created":"2022-12-30T13:37:23.411630+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: MSH2.\nTag cancer tag was added to gene: MSH2.\nTag treatable tag was added to gene: MSH2.","entity_name":"MSH2","entity_type":"gene"},{"created":"2022-12-30T13:37:14.763554+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: LYST as ready","entity_name":"LYST","entity_type":"gene"},{"created":"2022-12-30T13:37:14.750132+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Seb Lunke","item_type":"entity","text":"Gene: lyst has been classified as Green List (High Evidence).","entity_name":"LYST","entity_type":"gene"},{"created":"2022-12-30T13:37:07.025535+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome 2, MIM# 619096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSH2","entity_type":"gene"},{"created":"2022-12-30T13:36:17.076383+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: COL9A2 as ready","entity_name":"COL9A2","entity_type":"gene"},{"created":"2022-12-30T13:36:17.063772+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Seb Lunke","item_type":"entity","text":"Gene: col9a2 has been classified as Green List (High Evidence).","entity_name":"COL9A2","entity_type":"gene"},{"created":"2022-12-30T13:35:59.780601+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: MLH1.\nTag cancer tag was added to gene: MLH1.\nTag treatable tag was added to gene: MLH1.","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-12-30T13:35:43.960827+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome 1, MIM# 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLH1","entity_type":"gene"},{"created":"2022-12-30T13:29:57.303995+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPRN as ready","entity_name":"TPRN","entity_type":"gene"},{"created":"2022-12-30T13:29:57.263661+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tprn has been classified as Green List (High Evidence).","entity_name":"TPRN","entity_type":"gene"},{"created":"2022-12-30T13:29:53.725961+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPRN were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 79, MIM# 613307","entity_name":"TPRN","entity_type":"gene"},{"created":"2022-12-30T13:29:41.625678+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1792","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TPRN as Green List (high evidence)","entity_name":"TPRN","entity_type":"gene"},{"created":"2022-12-30T13:29:41.614151+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1792","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tprn has been classified as Green List (High Evidence).","entity_name":"TPRN","entity_type":"gene"},{"created":"2022-12-30T13:29:30.246870+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1791","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: TPRN.","entity_name":"TPRN","entity_type":"gene"},{"created":"2022-12-30T13:29:21.529658+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1791","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TPRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 79, MIM# 613307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TPRN","entity_type":"gene"},{"created":"2022-12-30T13:28:00.755114+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1791","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STRC as Green List (high evidence)","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-30T13:28:00.744290+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1791","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: strc has been classified as Green List (High Evidence).","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-30T13:27:49.890775+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1790","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: STRC.\nTag deafness tag was added to gene: STRC.","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-30T13:27:38.542716+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1790","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 16, MIM# 603720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-30T13:26:39.220451+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1790","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: S1PR2 as ready","entity_name":"S1PR2","entity_type":"gene"},{"created":"2022-12-30T13:26:39.204546+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1790","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: s1pr2 has been classified as Green List (High Evidence).","entity_name":"S1PR2","entity_type":"gene"},{"created":"2022-12-30T13:26:34.698269+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1790","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: S1PR2 as Green List (high evidence)","entity_name":"S1PR2","entity_type":"gene"},{"created":"2022-12-30T13:26:34.686657+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1790","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: s1pr2 has been classified as Green List (High Evidence).","entity_name":"S1PR2","entity_type":"gene"},{"created":"2022-12-30T13:26:22.804509+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1789","user_name":"Zornitza Stark","item_type":"entity","text":"gene: S1PR2 was added\ngene: S1PR2 was added to gNBS. Sources: ClinGen\ndeafness tags were added to gene: S1PR2.\nMode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM# 610419\nReview for gene: S1PR2 was set to GREEN\nAdded comment: Assessed as 'strong actionability' in paediatric patients by ClinGen, onset of deafness is generally pre-lingual, therefore include. \nSources: ClinGen","entity_name":"S1PR2","entity_type":"gene"},{"created":"2022-12-30T13:24:40.177585+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1788","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPRQ as ready","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2022-12-30T13:24:40.165324+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptprq has been classified as Green List (High Evidence).","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2022-12-30T13:24:28.384218+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1788","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPRQ as Green List (high evidence)","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2022-12-30T13:24:28.368774+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptprq has been classified as Green List (High Evidence).","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2022-12-30T13:24:16.451185+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1787","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPRQ was added\ngene: PTPRQ was added to gNBS. Sources: ClinGen\ndeafness tags were added to gene: PTPRQ.\nMode of inheritance for gene: PTPRQ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PTPRQ were set to Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM# 617663\nReview for gene: PTPRQ was set to GREEN\nAdded comment: Assessed as 'strong actionability' in paediatric patients by ClinGen, onset of deafness is generally pre-lingual, therefore include. \nSources: ClinGen","entity_name":"PTPRQ","entity_type":"gene"},{"created":"2022-12-30T13:22:14.893859+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1786","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POU3F4 as Green List (high evidence)","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-30T13:22:14.882648+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1786","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou3f4 has been classified as Green List (High Evidence).","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-30T13:22:05.887368+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1785","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: POU3F4.","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-30T13:21:52.380323+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1785","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-30T13:21:47.832734+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1785","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POU3F4: Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen, onset is generally pre-lingual, therefore include.; Changed rating: GREEN","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-30T13:19:23.719756+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1785","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTOG as ready","entity_name":"OTOG","entity_type":"gene"},{"created":"2022-12-30T13:19:23.707629+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1785","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otog has been classified as Green List (High Evidence).","entity_name":"OTOG","entity_type":"gene"},{"created":"2022-12-30T13:19:20.619887+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1785","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTOG were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 18B - MIM#614945","entity_name":"OTOG","entity_type":"gene"},{"created":"2022-12-30T13:19:08.502703+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1784","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OTOG as Green List (high evidence)","entity_name":"OTOG","entity_type":"gene"},{"created":"2022-12-30T13:19:08.490343+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1784","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otog has been classified as Green List (High Evidence).","entity_name":"OTOG","entity_type":"gene"},{"created":"2022-12-30T13:18:59.554195+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1783","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: OTOG.","entity_name":"OTOG","entity_type":"gene"},{"created":"2022-12-30T13:18:51.191900+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1783","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTOG","entity_type":"gene"},{"created":"2022-12-30T13:16:56.703937+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1783","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYO3A as Green List (high evidence)","entity_name":"MYO3A","entity_type":"gene"},{"created":"2022-12-30T13:16:56.688023+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1783","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo3a has been classified as Green List (High Evidence).","entity_name":"MYO3A","entity_type":"gene"},{"created":"2022-12-30T13:16:46.873250+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1782","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: MYO3A.","entity_name":"MYO3A","entity_type":"gene"},{"created":"2022-12-30T13:16:37.609898+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1782","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYO3A: Added comment: Assessed by ClinGen as 'strong actionability' in paediatric patients.\r\n\r\nIncluded as a cause of pre-lingual deafness, therefore include in this panel, noting some reports of later onset.; Changed rating: GREEN","entity_name":"MYO3A","entity_type":"gene"},{"created":"2022-12-30T13:11:48.640690+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1782","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKG1 as ready","entity_name":"PRKG1","entity_type":"gene"},{"created":"2022-12-30T13:11:48.617970+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1782","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkg1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRKG1","entity_type":"gene"},{"created":"2022-12-30T13:11:43.310746+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1782","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKG1 as Amber List (moderate evidence)","entity_name":"PRKG1","entity_type":"gene"},{"created":"2022-12-30T13:11:43.291097+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1782","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkg1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRKG1","entity_type":"gene"},{"created":"2022-12-30T13:11:30.399542+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1781","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKG1 was added\ngene: PRKG1 was added to gNBS. Sources: ClinGen\nfor review, cardiac, treatable tags were added to gene: PRKG1.\nMode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, MIM#615436\nPenetrance for gene: PRKG1 were set to Incomplete\nReview for gene: PRKG1 was set to AMBER\nAdded comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nFTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).\r\n\r\nVariable age of clinical presentation.\r\n\r\nProphylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.\r\n\r\nBeta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.\r\n\r\nPenetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%). \nSources: ClinGen","entity_name":"PRKG1","entity_type":"gene"},{"created":"2022-12-30T13:09:46.169389+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1780","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH11 as ready","entity_name":"MYH11","entity_type":"gene"},{"created":"2022-12-30T13:09:46.158612+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1780","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh11 has been classified as Amber List (Moderate Evidence).","entity_name":"MYH11","entity_type":"gene"},{"created":"2022-12-30T13:09:42.564897+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1780","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4 to Aortic aneurysm, familial thoracic 4, MIM#160745","entity_name":"MYH11","entity_type":"gene"},{"created":"2022-12-30T13:09:29.044851+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1779","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: MYH11.\nTag cardiac tag was added to gene: MYH11.\nTag treatable tag was added to gene: MYH11.","entity_name":"MYH11","entity_type":"gene"},{"created":"2022-12-30T13:09:13.962643+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1779","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM#160745; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH11","entity_type":"gene"},{"created":"2022-12-30T13:08:11.196679+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1779","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LOX as ready","entity_name":"LOX","entity_type":"gene"},{"created":"2022-12-30T13:08:11.182844+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1779","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lox has been classified as Amber List (Moderate Evidence).","entity_name":"LOX","entity_type":"gene"}]}