{"count":220771,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=745","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=743","results":[{"created":"2022-09-23T17:37:57.175090+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a2 has been classified as Red List (Low Evidence).","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2022-09-23T17:37:46.272563+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP1A2: Changed publications: 31608932, 33880529","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2022-09-23T17:37:32.162429+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2022-09-23T17:33:14.306699+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG14 were changed from ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-23T17:32:55.580635+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG14 were set to 23404334; 28733338","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-23T17:31:43.636049+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG14 as Amber List (moderate evidence)","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-23T17:31:43.625432+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg14 has been classified as Amber List (Moderate Evidence).","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-23T17:31:31.489916+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334, 28733338; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-09-23T17:26:45.189171+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-09-23T17:26:45.176647+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Red List (Low Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-09-23T17:26:40.109899+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-09-23T17:26:29.987328+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG9 as Red List (low evidence)","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-09-23T17:26:29.978859+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Red List (Low Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-09-23T17:26:16.683852+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG9: Rating: RED; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210, Polycystic kidney disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-09-23T13:20:14.551031+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG8 as ready","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-09-23T13:20:14.540431+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg8 has been classified as Red List (Low Evidence).","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-09-23T13:20:11.017071+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih to Congenital disorder of glycosylation, type Ih, MIM# 608104","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-09-23T13:19:55.201364+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG8 as Red List (low evidence)","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-09-23T13:19:55.172647+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg8 has been classified as Red List (Low Evidence).","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-09-23T13:19:43.043117+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-09-23T13:16:15.922055+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG6 as ready","entity_name":"ALG6","entity_type":"gene"},{"created":"2022-09-23T13:16:15.912978+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg6 has been classified as Red List (Low Evidence).","entity_name":"ALG6","entity_type":"gene"},{"created":"2022-09-23T13:16:09.259845+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic to Congenital disorder of glycosylation, type Ic (MIM#603147)","entity_name":"ALG6","entity_type":"gene"},{"created":"2022-09-23T13:15:54.675021+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG6 as Red List (low evidence)","entity_name":"ALG6","entity_type":"gene"},{"created":"2022-09-23T13:15:54.664568+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg6 has been classified as Red List (Low Evidence).","entity_name":"ALG6","entity_type":"gene"},{"created":"2022-09-23T13:15:44.010458+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG6","entity_type":"gene"},{"created":"2022-09-23T13:14:32.294077+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG3 as ready","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-09-23T13:14:32.277530+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg3 has been classified as Red List (Low Evidence).","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-09-23T13:14:09.811232+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG3 were changed from Congenital disorder of glycosylation, type Id to Congenital disorder of glycosylation, type Id, MIM# 601110","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-09-23T13:13:49.027315+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG3 as Red List (low evidence)","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-09-23T13:13:49.019004+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg3 has been classified as Red List (Low Evidence).","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-09-23T13:13:38.204638+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Id 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-09-23T13:06:17.973017+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG12 as ready","entity_name":"ALG12","entity_type":"gene"},{"created":"2022-09-23T13:06:17.964301+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg12 has been classified as Red List (Low Evidence).","entity_name":"ALG12","entity_type":"gene"},{"created":"2022-09-23T13:06:13.903024+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG12 were changed from Congenital disorder of glycosylation, type Ig to Congenital disorder of glycosylation, type Ig, MIM# 607143","entity_name":"ALG12","entity_type":"gene"},{"created":"2022-09-23T13:05:59.687800+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG12 as Red List (low evidence)","entity_name":"ALG12","entity_type":"gene"},{"created":"2022-09-23T13:05:59.665656+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg12 has been classified as Red List (Low Evidence).","entity_name":"ALG12","entity_type":"gene"},{"created":"2022-09-23T13:05:46.779138+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG12","entity_type":"gene"},{"created":"2022-09-23T13:04:35.856276+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG1 as ready","entity_name":"ALG1","entity_type":"gene"},{"created":"2022-09-23T13:04:35.836976+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg1 has been classified as Red List (Low Evidence).","entity_name":"ALG1","entity_type":"gene"},{"created":"2022-09-23T13:04:32.548300+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG1 were changed from Congenital disorder of glycosylation, type Ik to Congenital disorder of glycosylation, type Ik 608540","entity_name":"ALG1","entity_type":"gene"},{"created":"2022-09-23T13:03:57.281547+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG1 as Red List (low evidence)","entity_name":"ALG1","entity_type":"gene"},{"created":"2022-09-23T13:03:57.269849+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg1 has been classified as Red List (Low Evidence).","entity_name":"ALG1","entity_type":"gene"},{"created":"2022-09-23T13:03:46.337469+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG1","entity_type":"gene"},{"created":"2022-09-23T13:01:22.130088+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association, IUGR is a feature.; to: Well established gene-disease association, IUGR is a feature.\r\n\r\nTreatment: subcutaneous injections of copper histidine or copper chloride\r\n\r\nClinGen has assessed as moderate evidence for actionability.\r\n\r\nNeonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T13:00:53.312261+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T13:00:31.303912+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7A as ready","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T13:00:31.288691+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7a has been classified as Green List (High Evidence).","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T13:00:25.359946+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP7A were set to 31332722","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T13:00:00.842582+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:59:36.833389+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:59:13.156956+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4949","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7A as ready","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:59:13.147170+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4949","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7a has been classified as Green List (High Evidence).","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:59:09.433799+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4949","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7A were changed from  to Menkes disease MIM#309400","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:58:36.694029+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4948","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:58:04.080320+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4947","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:57:55.106555+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4947","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:57:08.721319+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7A as ready","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:57:08.709875+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7a has been classified as Green List (High Evidence).","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:57:03.921389+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7A were changed from  to Menkes disease MIM#309400","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:56:37.471523+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:56:13.358663+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.501","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:56:02.850270+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.501","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:55:27.985758+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1670","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7A as ready","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:55:27.977271+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1670","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7a has been classified as Green List (High Evidence).","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:55:24.842667+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1670","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7A were changed from  to Menkes disease MIM#309400","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:54:54.841774+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1669","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:54:23.277005+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1668","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:53:43.817795+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1668","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:53:17.435368+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7A as ready","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:53:17.385102+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7a has been classified as Green List (High Evidence).","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:53:13.233681+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7A were changed from  to Menkes disease MIM#309400","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:52:38.579887+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:52:15.020645+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:52:04.617022+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:51:05.163256+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:50:55.378323+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Connective tissue laxity is a prominent part of the phenotype. \nSources: Expert list; to: Connective tissue laxity is a prominent part of the phenotype.\r\n\r\nTreatment: subcutaneous injections of copper histidine or copper chloride\r\n\r\nClinGen has assessed as moderate evidence for actionability.\r\n\r\nNeonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.\r\nSources: Expert list","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:50:33.080997+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.; to: ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.\r\n\r\nTreatment for Menkes disease: subcutaneous injections of copper histidine or copper chloride\r\n\r\nClinGen has assessed as moderate evidence for actionability.\r\n\r\nNeonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:49:52.716167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:49:26.600238+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.\r\n\r\nMenkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months.\r\n\r\nFemales are typically asymptomatic.\r\n\r\nIn Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect\r\n\r\nTreatment: subcutaneous injections of copper histidine or copper chloride\r\n\r\nClinGen has assessed as moderate evidence for actionability.\r\n\r\nNeonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.; to: Well established gene-disease association.\r\n\r\nATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.\r\n\r\nMenkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months.\r\n\r\nFemales are typically asymptomatic.\r\n\r\nIn Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect.\r\n\r\nNon-genetic confirmatory testing: serum ceruloplasmin and copper,  plasma catechols\r\n\r\nTreatment: subcutaneous injections of copper histidine or copper chloride\r\n\r\nClinGen has assessed as moderate evidence for actionability.\r\n\r\nNeonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:48:49.088404+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ATP7A.\nTag treatable tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:48:35.233723+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7A as ready","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:48:35.221793+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7a has been classified as Green List (High Evidence).","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:48:26.133731+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP7A were set to ","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:47:59.333942+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP7A: Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:47:47.231669+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP7A: Rating: ; Mode of pathogenicity: None; Publications: 30594472; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: None","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-09-23T12:39:36.083750+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATRX as ready","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-09-23T12:39:36.060251+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atrx has been classified as Red List (Low Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-09-23T12:39:23.765243+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-09-23T12:39:08.649680+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATRX as Red List (low evidence)","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-09-23T12:39:08.617931+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atrx has been classified as Red List (Low Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-09-23T12:38:56.065097+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-09-23T12:38:10.113846+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked to Alpha-thalassemia/mental retardation syndrome, MIM#\t301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM#\t309580","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-09-23T12:36:58.594863+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BAAT as ready","entity_name":"BAAT","entity_type":"gene"},{"created":"2022-09-23T12:36:58.586372+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baat has been classified as Green List (High Evidence).","entity_name":"BAAT","entity_type":"gene"},{"created":"2022-09-23T12:06:24.459584+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BAAT as ready","entity_name":"BAAT","entity_type":"gene"},{"created":"2022-09-23T12:06:24.451121+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baat has been classified as Red List (Low Evidence).","entity_name":"BAAT","entity_type":"gene"},{"created":"2022-09-23T12:06:19.428119+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BAAT were changed from Bile acid amidation defect to Bile acid conjugation defect 1, MIM# 619232","entity_name":"BAAT","entity_type":"gene"},{"created":"2022-09-23T11:52:19.972703+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BAAT as Red List (low evidence)","entity_name":"BAAT","entity_type":"gene"},{"created":"2022-09-23T11:52:19.959107+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baat has been classified as Red List (Low Evidence).","entity_name":"BAAT","entity_type":"gene"}]}