{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1208","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1206","results":[{"created":"2021-09-20T11:49:35.285071+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ABCC6 as ready","entity_name":"ABCC6","entity_type":"gene"},{"created":"2021-09-20T11:49:35.275656+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: abcc6 has been classified as Red List (Low Evidence).","entity_name":"ABCC6","entity_type":"gene"},{"created":"2021-09-20T11:49:28.496393+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: 16086762; Phenotypes: Moya moya disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCC6","entity_type":"gene"},{"created":"2021-09-20T09:41:13.135186+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNLDC1 as ready","entity_name":"PNLDC1","entity_type":"gene"},{"created":"2021-09-20T09:41:13.124464+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnldc1 has been classified as Green List (High Evidence).","entity_name":"PNLDC1","entity_type":"gene"},{"created":"2021-09-20T09:41:04.872814+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9200","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNLDC1 as Green List (high evidence)","entity_name":"PNLDC1","entity_type":"gene"},{"created":"2021-09-20T09:41:04.861684+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnldc1 has been classified as Green List (High Evidence).","entity_name":"PNLDC1","entity_type":"gene"},{"created":"2021-09-20T09:40:03.158863+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9199","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNLDC1 was added\ngene: PNLDC1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: PNLDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNLDC1 were set to 34347949\nPhenotypes for gene: PNLDC1 were set to Spermatogenic failure 57, MIM#\t619528\nReview for gene: PNLDC1 was set to GREEN\nAdded comment: Four unrelated individuals reported. \nSources: Expert Review","entity_name":"PNLDC1","entity_type":"gene"},{"created":"2021-09-20T09:37:37.247173+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9198","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXP1 as ready","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-09-20T09:37:37.237563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9198","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp1 has been classified as Green List (High Evidence).","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-09-20T09:37:29.317664+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9198","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXP1 were changed from  to Mental retardation with language impairment and with or without autistic features, MIM# 613670","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-09-20T09:36:21.209748+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXP1 as ready","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-09-20T09:36:21.200144+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp1 has been classified as Green List (High Evidence).","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-09-20T09:36:15.946952+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXP1 as Green List (high evidence)","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-09-20T09:36:15.934956+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp1 has been classified as Green List (High Evidence).","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-09-20T09:35:43.332681+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXP1 was added\ngene: FOXP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review\nMode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP1 were set to 27657687\nPhenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features, MIM#\t613670\nReview for gene: FOXP1 was set to GREEN\nAdded comment: Well established association with syndromic ID. Multiple individuals reported with congenital anomalies of the kidneys and urinary tract in PMID 27657687. \nSources: Expert Review","entity_name":"FOXP1","entity_type":"gene"},{"created":"2021-09-20T09:31:21.588973+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZMYM2 as ready","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:31:21.578309+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmym2 has been classified as Green List (High Evidence).","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:30:38.214244+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZMYM2 as Green List (high evidence)","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:30:38.204323+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmym2 has been classified as Green List (High Evidence).","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:30:10.393783+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZMYM2 was added\ngene: ZMYM2 was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZMYM2 were set to 32891193\nPhenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522\nReview for gene: ZMYM2 was set to GREEN\nAdded comment: Connaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants.\r\n\r\nAffected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.\r\n\r\n14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.\r\n\r\nThe human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT. \r\n\r\nZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body). \r\n\r\nIt has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.\r\n\r\nThe authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT). \nSources: Expert Review","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:28:26.321788+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9197","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZMYM2: Changed phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:28:07.708080+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZMYM2 were changed from Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:27:30.979177+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522; Mode of inheritance: None","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:27:30.588405+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZMYM2 were changed from Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM#\t619522","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:26:44.505203+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4129","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZMYM2: Changed phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522","entity_name":"ZMYM2","entity_type":"gene"},{"created":"2021-09-20T09:18:05.236842+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9197","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HCN2 were changed from Genetic epilepsy with febrile seizures plus; Other seizure disorders to Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders","entity_name":"HCN2","entity_type":"gene"},{"created":"2021-09-20T09:17:45.848543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9196","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HCN2: Changed phenotypes: Febrile seizures, familial, 2, MIM# 602477, Genetic epilepsy with febrile seizures plus, Other seizure disorders","entity_name":"HCN2","entity_type":"gene"},{"created":"2021-09-20T09:17:28.422373+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1194","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HCN2 were changed from Genetic epilepsy with febrile seizures plus; Other seizure disorders to Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders","entity_name":"HCN2","entity_type":"gene"},{"created":"2021-09-20T09:16:47.625913+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1193","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HCN2: Changed phenotypes: Febrile seizures, familial, 2, MIM# 602477, Genetic epilepsy with febrile seizures plus, Other seizure disorders","entity_name":"HCN2","entity_type":"gene"},{"created":"2021-09-19T18:06:47.290002+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9196","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSCB as ready","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-19T18:06:47.278088+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hscb has been classified as Amber List (Moderate Evidence).","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-19T18:06:38.881383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9196","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSCB as Amber List (moderate evidence)","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-19T18:06:38.872725+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hscb has been classified as Amber List (Moderate Evidence).","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-19T18:06:21.678561+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9195","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSCB was added\ngene: HSCB was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HSCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSCB were set to 32634119\nPhenotypes for gene: HSCB were set to Anaemia, sideroblastic, 5, MIM# 619523\nReview for gene: HSCB was set to AMBER\nAdded comment: Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model. \nSources: Expert list","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-19T18:04:53.371798+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSCB as ready","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-19T18:04:53.361824+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hscb has been classified as Amber List (Moderate Evidence).","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-19T18:04:48.892282+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSCB as Amber List (moderate evidence)","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-19T18:04:48.883137+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hscb has been classified as Amber List (Moderate Evidence).","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-19T18:04:41.344284+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSCB was added\ngene: HSCB was added to Red cell disorders. Sources: Expert list\nMode of inheritance for gene: HSCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSCB were set to 32634119\nPhenotypes for gene: HSCB were set to Anaemia, sideroblastic, 5\t619523\nReview for gene: HSCB was set to AMBER\nAdded comment: Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model. \nSources: Expert list","entity_name":"HSCB","entity_type":"gene"},{"created":"2021-09-18T18:17:23.247479+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9194","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAM57B were changed from Cone–rod dystrophy; Maculopathy to Cone-rod dystrophy 22, MIM# 619531; Maculopathy","entity_name":"FAM57B","entity_type":"gene"},{"created":"2021-09-18T18:17:01.852884+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9193","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAM57B: Changed phenotypes: Cone-rod dystrophy 22, MIM# 619531, Maculopathy","entity_name":"FAM57B","entity_type":"gene"},{"created":"2021-09-18T18:16:38.176059+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM57B as ready","entity_name":"FAM57B","entity_type":"gene"},{"created":"2021-09-18T18:16:38.167079+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam57b has been classified as Green List (High Evidence).","entity_name":"FAM57B","entity_type":"gene"},{"created":"2021-09-18T18:16:34.447912+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAM57B as Green List (high evidence)","entity_name":"FAM57B","entity_type":"gene"},{"created":"2021-09-18T18:16:34.437681+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam57b has been classified as Green List (High Evidence).","entity_name":"FAM57B","entity_type":"gene"},{"created":"2021-09-18T18:16:19.354537+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM57B was added\ngene: FAM57B was added to Cone-rod Dystrophy. Sources: Expert Review\nnew gene name tags were added to gene: FAM57B.\nMode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM57B were set to 33077892\nPhenotypes for gene: FAM57B were set to Cone-rod dystrophy 22, MIM# 619531; Maculopathy\nReview for gene: FAM57B was set to GREEN\nAdded comment: 4 patients with cone-rod dystrophy or maculopathy from 3 families, with LOF pathogenic variants in TLCD3B (ceramide synthase gene). Ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. Variants segregated with disease. TLCD3B showed high expression in the adult retina with higher expression in the macular than in the peripheral region. Tlcd3bKO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina. \nSources: Expert Review","entity_name":"FAM57B","entity_type":"gene"},{"created":"2021-09-18T18:15:22.757432+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAM57B were changed from Cone–rod dystrophy; Maculopathy to Cone-rod dystrophy 22, MIM# 619531; Maculopathy","entity_name":"FAM57B","entity_type":"gene"},{"created":"2021-09-18T18:15:06.391998+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAM57B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 22, MIM# 619531; Mode of inheritance: None","entity_name":"FAM57B","entity_type":"gene"},{"created":"2021-09-18T18:11:56.953064+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9193","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CADM3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519","entity_name":"CADM3","entity_type":"gene"},{"created":"2021-09-18T18:11:28.741675+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9192","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CADM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CADM3","entity_type":"gene"},{"created":"2021-09-18T16:59:15.780008+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Combination of ID with ataxia overlaps with CP. \nSources: Expert list; to: Combination of ID with ataxia overlaps with CP. At least 3 families reported, intragenic deletions.\r\nSources: Expert list","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2021-09-18T16:58:59.228179+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMTA1 as ready","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2021-09-18T16:58:59.216629+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camta1 has been classified as Green List (High Evidence).","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2021-09-18T16:58:55.014249+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CAMTA1.","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2021-09-18T16:58:48.963668+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAMTA1 as Green List (high evidence)","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2021-09-18T16:58:48.953588+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camta1 has been classified as Green List (High Evidence).","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2021-09-18T16:58:26.071164+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAMTA1 was added\ngene: CAMTA1 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMTA1 were set to 22693284; 24738973\nPhenotypes for gene: CAMTA1 were set to Cerebellar ataxia, nonprogressive, with mental retardation, MIM#\t614756\nReview for gene: CAMTA1 was set to GREEN\nAdded comment: Combination of ID with ataxia overlaps with CP. \nSources: Expert list","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2021-09-18T16:55:38.108116+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1A as ready","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-09-18T16:55:38.098559+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1a has been classified as Amber List (Moderate Evidence).","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-09-18T16:55:33.006046+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA1A as Amber List (moderate evidence)","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-09-18T16:55:32.994283+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1a has been classified as Amber List (Moderate Evidence).","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-09-18T16:55:08.769833+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1A was added\ngene: CACNA1A was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1A were set to 29761117\nPhenotypes for gene: CACNA1A were set to Developemental and epileptic encephalopathy 42, MIM#\t617106; Episodic ataxia, type 2, MIM#\t108500; Migraine, familial hemiplegic, 1, MIM#\t141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia\t141500; Spinocerebellar ataxia 6, MIM#\t183086\nReview for gene: CACNA1A was set to AMBER\nAdded comment: Variants in this gene cause a range of phenotypes, including hemiplegia, although this tends to be episodic. Reported in a CP cohort. \nSources: Expert Review","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-09-18T16:50:39.139716+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCL11A as ready","entity_name":"BCL11A","entity_type":"gene"},{"created":"2021-09-18T16:50:39.128342+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcl11a has been classified as Red List (Low Evidence).","entity_name":"BCL11A","entity_type":"gene"},{"created":"2021-09-18T16:50:32.147181+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCL11A was added\ngene: BCL11A was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BCL11A were set to Dias-Logan syndrome, MIM#\t617101\nReview for gene: BCL11A was set to RED\nAdded comment: Intellectual disability, microcephaly, dysmorphic features and persistence of fetal haemoglobin but no specific overlap with CP. \nSources: Expert Review","entity_name":"BCL11A","entity_type":"gene"},{"created":"2021-09-18T16:47:09.033925+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCAP31 was added\ngene: BCAP31 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BCAP31 were set to 24011989; 31330203; 33603160\nPhenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475\nReview for gene: BCAP31 was set to GREEN\nAdded comment: More than 20 unrelated families reported. Clinical features include severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. Female carriers are mostly asymptomatic but may present with deafness. \nSources: Expert Review","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:45:44.209821+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCAP31 as ready","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:45:44.200118+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcap31 has been classified as Green List (High Evidence).","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:45:39.115574+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCAP31 were changed from  to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:45:13.048290+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4128","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCAP31 were set to ","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:44:35.913335+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4127","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:44:00.600179+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 24011989, 31330203, 33603160; Phenotypes: Deafness, dystonia, and cerebral hypomyelination, MIM# 300475; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:43:08.139582+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCAP31 as ready","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:43:08.129327+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcap31 has been classified as Green List (High Evidence).","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:43:01.379730+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9192","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCAP31 were changed from  to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:42:43.187790+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9191","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCAP31 were set to ","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:42:12.873166+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9190","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:41:53.091856+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9189","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 24011989, 31330203, 33603160; Phenotypes: Deafness, dystonia, and cerebral hypomyelination, MIM# 300475; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:39:00.500529+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCAP31 as ready","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:39:00.491376+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcap31 has been classified as Green List (High Evidence).","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:38:50.727220+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCAP31 as Green List (high evidence)","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:38:50.717771+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcap31 has been classified as Green List (High Evidence).","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T16:38:19.386381+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCAP31 was added\ngene: BCAP31 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BCAP31 were set to 24011989; 31330203\nPhenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM#\t300475\nReview for gene: BCAP31 was set to GREEN\nAdded comment: Phenotypic overlap with CP due to combination of almost no psychomotor development with dystonia and pyramidal signs. At least one patient reported who specifically had a CP diagnosis. \nSources: Expert Review","entity_name":"BCAP31","entity_type":"gene"},{"created":"2021-09-18T14:11:39.002811+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AUTS2 as ready","entity_name":"AUTS2","entity_type":"gene"},{"created":"2021-09-18T14:11:38.991703+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auts2 has been classified as Green List (High Evidence).","entity_name":"AUTS2","entity_type":"gene"},{"created":"2021-09-18T14:11:34.705292+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AUTS2 as Green List (high evidence)","entity_name":"AUTS2","entity_type":"gene"},{"created":"2021-09-18T14:11:34.694874+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auts2 has been classified as Green List (High Evidence).","entity_name":"AUTS2","entity_type":"gene"},{"created":"2021-09-18T14:10:58.821724+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AUTS2 was added\ngene: AUTS2 was added to Cerebral Palsy. Sources: Expert list\nSV/CNV tags were added to gene: AUTS2.\nMode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AUTS2 were set to 23332918; 27075013\nPhenotypes for gene: AUTS2 were set to Mental retardation, autosomal dominant 26, MIM#\t615834\nReview for gene: AUTS2 was set to GREEN\nAdded comment: Multiple individuals reported with ID/autism, but 'cerebral palsy' was the original clinical diagnosis in some.\r\n\r\nPredominantly deletions reported, so may not be tractable by all NGS assays. \nSources: Expert list","entity_name":"AUTS2","entity_type":"gene"},{"created":"2021-09-18T14:02:55.560445+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF4 as ready","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-18T14:02:55.539914+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff4 has been classified as Green List (High Evidence).","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-18T14:02:51.428462+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AFF4 as Green List (high evidence)","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-18T14:02:51.417090+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff4 has been classified as Green List (High Evidence).","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-18T14:02:26.571201+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AFF4 was added\ngene: AFF4 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review\nMode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AFF4 were set to 31058441; 25730767\nPhenotypes for gene: AFF4 were set to CHOPS syndrome, MIM#\t616368\nReview for gene: AFF4 was set to GREEN\nAdded comment: Chronic interstitial lung disease is a feature of this condition. More than 15 unrelated individuals reported. \nSources: Expert Review","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-18T12:59:15.726469+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATRX as ready","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-09-18T12:59:15.717468+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atrx has been classified as Green List (High Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-09-18T12:59:07.031889+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATRX as Green List (high evidence)","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-09-18T12:59:07.020728+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atrx has been classified as Green List (High Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-09-18T12:58:42.781669+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATRX was added\ngene: ATRX was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome, MIM#\t301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM#\t309580\nReview for gene: ATRX was set to GREEN\nAdded comment: ID and hypotonia/hypertonia/spasticity: phenotypic overlap with CP. Well established gene-disease association. \nSources: Expert Review","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-09-18T12:55:46.165233+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A3 as ready","entity_name":"ATP1A3","entity_type":"gene"}]}