{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1350","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1348","results":[{"created":"2021-04-15T17:11:36.838513+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITGB3 were changed from  to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:11:08.579298+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITGB3 were set to ","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:10:39.656562+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:10:12.996200+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18065693, 19336737, 20081061, 23253071; Phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:06:02.810084+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7196","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528; Phenotypes: CIRRHOSIS, FAMILIAL, MIM #215600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T17:01:08.199667+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.69","user_name":"Seb Lunke","item_type":"entity","text":"changed review comment from: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.; to: Comment when marking as ready: In gnomAD as p.Gly90Cys with >700hets and 5hom.","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T16:59:52.204231+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.69","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: KRT8 as ready","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T16:59:52.199037+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.69","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T16:59:52.158361+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.69","user_name":"Seb Lunke","item_type":"entity","text":"Gene: krt8 has been classified as Red List (Low Evidence).","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T16:38:53.860817+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.69","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: KRT8 were changed from Cirrhosis, cryptogenic, 215600 (3) to CIRRHOSIS, FAMILIAL, MIM #215600","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T16:38:26.583113+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.68","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: KRT8 were set to ","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T16:38:16.777790+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.67","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: KRT8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T16:38:00.327001+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.66","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: KRT8 as Red List (low evidence)","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T16:38:00.315277+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.66","user_name":"Seb Lunke","item_type":"entity","text":"Gene: krt8 has been classified as Red List (Low Evidence).","entity_name":"KRT8","entity_type":"gene"},{"created":"2021-04-15T16:36:43.335265+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.65","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: ACSF3 as ready","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-04-15T16:36:43.312764+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.65","user_name":"Seb Lunke","item_type":"entity","text":"Gene: acsf3 has been classified as Red List (Low Evidence).","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-04-15T16:36:39.316779+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.65","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: ACSF3 were changed from Combined malonic and methylmalonic aciduria, 614265 (3) to Combined malonic and methylmalonic aciduria, MIM#614265","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-04-15T16:36:23.334936+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.64","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: ACSF3 as Red List (low evidence)","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-04-15T16:36:23.324550+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.64","user_name":"Seb Lunke","item_type":"entity","text":"Gene: acsf3 has been classified as Red List (Low Evidence).","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-04-15T16:35:16.772833+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.63","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Mental retardation, X-linked, syndromic, 35 (MIM#300998)","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-15T16:34:02.405546+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.62","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: RPL10 as Green List (high evidence)","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-15T16:34:02.401109+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.62","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Remaining green due to X-linked neurodevelopment condition until further clarification.","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-15T16:34:02.367034+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.62","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rpl10 has been classified as Green List (High Evidence).","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-15T16:28:23.084691+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.61","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: RPL10 as Amber List (moderate evidence)","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-15T16:28:23.074688+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.61","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rpl10 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-15T16:27:30.203834+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.60","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: OPN1LW were changed from Blue cone monochromacy, 303700 (3) to Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2021-04-15T16:27:13.349572+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.59","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: OPN1LW as Red List (low evidence)","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2021-04-15T16:27:13.334698+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.59","user_name":"Seb Lunke","item_type":"entity","text":"Gene: opn1lw has been classified as Red List (Low Evidence).","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2021-04-15T16:26:40.006412+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.58","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: ABCA4 were changed from Cone-rod dystrophy 3, 604116 (3) to Stargardt disease 1 MIM#248200; Retinal dystrophy, early-onset severe MIM#248200; Cone-rod dystrophy 3 MIM#604116","entity_name":"ABCA4","entity_type":"gene"},{"created":"2021-04-15T16:26:22.996076+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.57","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: ABCA4 as Red List (low evidence)","entity_name":"ABCA4","entity_type":"gene"},{"created":"2021-04-15T16:26:22.977091+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.57","user_name":"Seb Lunke","item_type":"entity","text":"Gene: abca4 has been classified as Red List (Low Evidence).","entity_name":"ABCA4","entity_type":"gene"},{"created":"2021-04-15T16:25:45.592681+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.56","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: ABCC6 were changed from Arterial calcification, generalized, of infancy, 2, 614473 (3) to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473","entity_name":"ABCC6","entity_type":"gene"},{"created":"2021-04-15T16:25:25.543588+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.55","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: ABCC6 as Red List (low evidence)","entity_name":"ABCC6","entity_type":"gene"},{"created":"2021-04-15T16:25:25.528670+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.55","user_name":"Seb Lunke","item_type":"entity","text":"Gene: abcc6 has been classified as Red List (Low Evidence).","entity_name":"ABCC6","entity_type":"gene"},{"created":"2021-04-15T16:24:35.393230+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3681","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962","entity_name":"HDAC4","entity_type":"gene"},{"created":"2021-04-15T16:23:58.554365+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3680","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: HDAC4: Changed publications: 33537682","entity_name":"HDAC4","entity_type":"gene"},{"created":"2021-04-15T16:23:42.539067+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7196","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962; https://doi.org/10.1016/j.xhgg.2020.100015","entity_name":"HDAC4","entity_type":"gene"},{"created":"2021-04-15T16:22:53.619312+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7195","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: HDAC4: Changed publications: 33537682","entity_name":"HDAC4","entity_type":"gene"},{"created":"2021-04-15T16:15:08.436681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7195","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-04-15T16:14:44.378406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7194","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: TMEM218: Changed publications: 33791682, 25161209","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-04-15T16:14:27.068847+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.164","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-04-15T16:14:16.846389+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-04-15T16:14:14.812070+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.163","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: TMEM218: Changed publications: 33791682, 25161209","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-04-15T16:14:07.770269+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"John Christodoulou","item_type":"entity","text":"gene: COQ9 was added\ngene: COQ9 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582\nPhenotypes for gene: COQ9 were set to dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly\nPenetrance for gene: COQ9 were set to Complete\nReview for gene: COQ9 was set to GREEN\nAdded comment: Multiple independent reports of cases with cardiomyopathy of LVNC as features\r\n\r\nsee OMIM 614654 \nSources: Literature","entity_name":"COQ9","entity_type":"gene"},{"created":"2021-04-15T16:13:41.693946+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: TMEM218: Changed publications: 33791682, 25161209","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-04-15T16:05:47.154941+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"John Christodoulou","item_type":"entity","text":"gene: MIPEP was added\ngene: MIPEP was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIPEP were set to PMID: 27799064\nPhenotypes for gene: MIPEP were set to cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts\nPenetrance for gene: MIPEP were set to Complete\nReview for gene: MIPEP was set to GREEN\nAdded comment: 4 unrelated cases reported in one paper with functional supportive evidence\r\n\r\nsee OMIM 617228 \nSources: Literature","entity_name":"MIPEP","entity_type":"gene"},{"created":"2021-04-15T15:58:01.362881+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"John Christodoulou","item_type":"entity","text":"gene: MRPS22 was added\ngene: MRPS22 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481\nPhenotypes for gene: MRPS22 were set to hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI\nPenetrance for gene: MRPS22 were set to Complete\nReview for gene: MRPS22 was set to GREEN\nAdded comment: Three independent reports\r\n\r\nthe last report suggested the patient also had a Cornelia de Lange-like phenotype \r\n\r\nsee OMIM 611719 \nSources: Literature","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-04-15T15:50:39.034863+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"John Christodoulou","item_type":"entity","text":"gene: MRPS14 was added\ngene: MRPS14 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS14 were set to PMID: 30358850\nPhenotypes for gene: MRPS14 were set to hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability\nPenetrance for gene: MRPS14 were set to unknown\nReview for gene: MRPS14 was set to RED\nAdded comment: 1 case reported in the paper above\r\n\r\nsee OMIM 618378 \nSources: Literature","entity_name":"MRPS14","entity_type":"gene"},{"created":"2021-04-15T15:47:04.359133+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"John Christodoulou","item_type":"entity","text":"gene: ELAC2 was added\ngene: ELAC2 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELAC2 were set to PMID: 23849775: PMID: 28441660\nPhenotypes for gene: ELAC2 were set to cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities\nPenetrance for gene: ELAC2 were set to Complete\nReview for gene: ELAC2 was set to GREEN\nAdded comment: 5 cases from 3 unrelated families described in the first paper cited above\r\n\r\nsee OMIM 615440 \nSources: Literature","entity_name":"ELAC2","entity_type":"gene"},{"created":"2021-04-15T15:41:33.444547+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"John Christodoulou","item_type":"entity","text":"gene: UQCRFS1 was added\ngene: UQCRFS1 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UQCRFS1 were set to PMID: 31883641\nPhenotypes for gene: UQCRFS1 were set to cardiomyopathy; thrombocytopenia; hypotonia\nPenetrance for gene: UQCRFS1 were set to Complete\nReview for gene: UQCRFS1 was set to AMBER\nAdded comment: I'd label this one as amber: two unrelated cases\r\n\r\nsee OMIM 618775 \nSources: Literature","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T15:34:22.580268+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"John Christodoulou","item_type":"entity","text":"gene: PMM2 was added\ngene: PMM2 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235\nPhenotypes for gene: PMM2 were set to hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros\nPenetrance for gene: PMM2 were set to Complete\nReview for gene: PMM2 was set to RED\nAdded comment: OMIM 212065\r\n\r\nThe two papers cited above are both review papers - the first describes a cohort of 96 patients - 9 had cardiomyopathy \nSources: Literature","entity_name":"PMM2","entity_type":"gene"},{"created":"2021-04-15T15:19:03.826719+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"John Christodoulou","item_type":"entity","text":"gene: HSD17B10 was added\ngene: HSD17B10 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: HSD17B10 were set to PMID: 22127393 (review paper): PubMed: 20077426 (source paper)\nPhenotypes for gene: HSD17B10 were set to intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration\nPenetrance for gene: HSD17B10 were set to Incomplete\nReview for gene: HSD17B10 was set to GREEN\nAdded comment: OMIM - 300438 \nSources: Literature","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2021-04-15T14:34:34.082387+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UNC50 as ready","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-15T14:34:34.071732+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc50 has been classified as Amber List (Moderate Evidence).","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-15T14:34:29.384406+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UNC50 as Amber List (moderate evidence)","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-15T14:34:29.374582+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc50 has been classified as Amber List (Moderate Evidence).","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-15T14:34:06.541246+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UNC50 was added\ngene: UNC50 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC50 were set to 29016857; 33820833\nPhenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita\nReview for gene: UNC50 was set to AMBER\nAdded comment: UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype. - PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle. - PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.\r\n\r\nUnclear if these are two separate cases or the same case reported twice or ?founder variant. \nSources: Literature","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-15T14:33:14.390556+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UNC50 as ready","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-15T14:33:14.379286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc50 has been classified as Amber List (Moderate Evidence).","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-15T14:31:55.478690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7194","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UNC50 as Amber List (moderate evidence)","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-15T14:31:55.468425+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc50 has been classified as Amber List (Moderate Evidence).","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-15T14:30:35.195521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7193","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058","entity_name":"ADCY6","entity_type":"gene"},{"created":"2021-04-15T14:30:13.035247+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7192","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth. Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency. Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies. \nSources: Literature; to: - PMID: 33820833 (2021) - Further 2 sibs reported with a homozygous c.3346C>T:p.Arg1116Cys variant in the ADCY6 gene. The family was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and IUGR were detected prenatally.\r\n\r\nLaquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth. Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency. Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies. \r\nSources: Literature","entity_name":"ADCY6","entity_type":"gene"},{"created":"2021-04-15T14:29:46.336831+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7192","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADCY6: Changed publications: 24319099, 26257172, 31846058, 33820833","entity_name":"ADCY6","entity_type":"gene"},{"created":"2021-04-15T14:29:38.856146+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADCY6 were set to PMID: 24319099, 26257172, 31846058","entity_name":"ADCY6","entity_type":"gene"},{"created":"2021-04-15T14:28:19.973688+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCH1 as ready","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:28:19.963923+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:28:15.845908+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLCH1 as Amber List (moderate evidence)","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:28:15.837166+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:28:07.380547+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLCH1 was added\ngene: PLCH1 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCH1 were set to 33820834\nPhenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations\nReview for gene: PLCH1 was set to AMBER\nAdded comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome. \nSources: Literature","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:27:52.021054+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3680","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCH1 as ready","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:27:52.011017+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3680","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:27:43.310006+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3680","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLCH1 as Amber List (moderate evidence)","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:27:43.300152+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3680","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:26:51.211677+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3679","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLCH1 was added\ngene: PLCH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCH1 were set to 33820834\nPhenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations\nReview for gene: PLCH1 was set to AMBER\nAdded comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome. \nSources: Literature","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:26:07.458250+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLCH1 as Amber List (moderate evidence)","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:26:07.449290+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:25:30.739225+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLCH1 was added\ngene: PLCH1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCH1 were set to 33820834\nPhenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations\nReview for gene: PLCH1 was set to AMBER\nAdded comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome. \nSources: Literature","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:23:45.256131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCH1 as ready","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:23:45.019889+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:23:27.782027+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7192","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLCH1 as Amber List (moderate evidence)","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T14:23:27.773003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-15T13:01:35.072649+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3678","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGC as ready","entity_name":"PIGC","entity_type":"gene"},{"created":"2021-04-15T13:01:35.061938+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3678","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigc has been classified as Green List (High Evidence).","entity_name":"PIGC","entity_type":"gene"},{"created":"2021-04-15T13:01:27.981109+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3678","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGC were changed from  to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816","entity_name":"PIGC","entity_type":"gene"},{"created":"2021-04-15T13:00:56.583381+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3677","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGC were set to ","entity_name":"PIGC","entity_type":"gene"},{"created":"2021-04-15T13:00:32.744787+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3676","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGC","entity_type":"gene"},{"created":"2021-04-15T10:37:03.932179+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.203","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-04-15T01:01:09.037839+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7191","user_name":"Arina Puzriakova","item_type":"entity","text":"gene: UNC50 was added\ngene: UNC50 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC50 were set to 29016857; 33820833\nPhenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita\nReview for gene: UNC50 was set to AMBER\nAdded comment: UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype. \r\n\r\n- PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle.\r\n\r\n- PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.\r\n\r\n-- Note: it isn't definitively clear whether these are different individuals. Both are singleton males born to consanguineous parents, with the same variant and similar phenotype. Also both infants died at 28 w.g. However, the 2021 paper (PMID:33820833) states their patient was selected from a cohort of cases without a molecular diagnosis and indicate the UNC50 gene had already previously been identified in relation to this phenotype, highlighting the earlier paper (PMID:29016857). There is also no mention of tetra ventricular dilation in the first case, so it is likely that these do represent distinct individuals. Additional cases needed to provide clarity. \nSources: Literature","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-04-14T23:44:28.934120+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.262","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33820833; Phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADCY6","entity_type":"gene"},{"created":"2021-04-14T22:43:36.387406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7191","user_name":"Arina Puzriakova","item_type":"entity","text":"gene: PLCH1 was added\ngene: PLCH1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCH1 were set to 33820834\nPhenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations\nReview for gene: PLCH1 was set to AMBER\nAdded comment: PLCH1 is currently not associated with any phenotype in OMIM (last edited on 16/06/2009) or Gene2Phenotype.\r\n\r\n- PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease.\r\nHuman embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome. \nSources: Literature","entity_name":"PLCH1","entity_type":"gene"},{"created":"2021-04-14T21:43:10.607747+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM#613398 to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252","entity_name":"DDX11","entity_type":"gene"},{"created":"2021-04-14T21:42:50.682357+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDX11 were set to 31824187; 20137776; 23033317; 30216658","entity_name":"DDX11","entity_type":"gene"},{"created":"2021-04-14T21:42:36.311153+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDX11 were set to PMID: 31824187; 20137776; 23033317.","entity_name":"DDX11","entity_type":"gene"},{"created":"2021-04-14T21:41:53.676365+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX11","entity_type":"gene"},{"created":"2021-04-14T21:37:59.807503+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3675","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX11 as ready","entity_name":"DDX11","entity_type":"gene"},{"created":"2021-04-14T21:37:59.793051+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3675","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx11 has been classified as Green List (High Evidence).","entity_name":"DDX11","entity_type":"gene"},{"created":"2021-04-14T21:37:55.910165+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3675","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX11 were changed from  to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252","entity_name":"DDX11","entity_type":"gene"},{"created":"2021-04-14T21:37:22.918959+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3674","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDX11 were set to ","entity_name":"DDX11","entity_type":"gene"},{"created":"2021-04-14T21:36:51.824465+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3673","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX11","entity_type":"gene"}]}