{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1433","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1431","results":[{"created":"2021-01-29T21:50:41.476095+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAA was added\ngene: MMAA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAA were set to 15523652; 12438653\nPhenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive 251100","entity_name":"MMAA","entity_type":"gene"},{"created":"2021-01-29T21:50:41.425752+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLYCD was added\ngene: MLYCD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MLYCD were set to 10455107; 10417274; 12955715\nPhenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency\t248360; malonic aciduria","entity_name":"MLYCD","entity_type":"gene"},{"created":"2021-01-29T21:50:41.378555+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IVD was added\ngene: IVD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913\nPhenotypes for gene: IVD were set to Isovaleric acidemia\t243500","entity_name":"IVD","entity_type":"gene"},{"created":"2021-01-29T21:50:41.330538+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HMGCL was added\ngene: HMGCL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HMGCL","entity_type":"gene"},{"created":"2021-01-29T21:50:41.281854+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HLCS was added\ngene: HLCS was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency\t253270","entity_name":"HLCS","entity_type":"gene"},{"created":"2021-01-29T21:50:41.233987+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HADHB was added\ngene: HADHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015","entity_name":"HADHB","entity_type":"gene"},{"created":"2021-01-29T21:50:41.180361+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HADHA was added\ngene: HADHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015","entity_name":"HADHA","entity_type":"gene"},{"created":"2021-01-29T21:50:41.127029+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLUD1 was added\ngene: GLUD1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLUD1 were set to 11214910; 10636977\nPhenotypes for gene: GLUD1 were set to Hyperinsulinism-hyperammonemia syndrome, 606762","entity_name":"GLUD1","entity_type":"gene"},{"created":"2021-01-29T21:50:41.075404+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETFDH was added\ngene: ETFDH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFDH were set to Glutaric acidemia IIC\t231680","entity_name":"ETFDH","entity_type":"gene"},{"created":"2021-01-29T21:50:41.028961+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETFB was added\ngene: ETFB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFB were set to 27081516\nPhenotypes for gene: ETFB were set to Glutaric acidemia IIB\t231680","entity_name":"ETFB","entity_type":"gene"},{"created":"2021-01-29T21:50:40.980712+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETFA was added\ngene: ETFA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFA were set to Glutaric acidemia IIA\t231680","entity_name":"ETFA","entity_type":"gene"},{"created":"2021-01-29T21:50:40.924563+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DBT was added\ngene: DBT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBT were set to Maple syrup urine disease, type II\t248600","entity_name":"DBT","entity_type":"gene"},{"created":"2021-01-29T21:50:40.874810+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPT2 was added\ngene: CPT2 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836","entity_name":"CPT2","entity_type":"gene"},{"created":"2021-01-29T21:50:40.810563+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPT1A was added\ngene: CPT1A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA\t255120","entity_name":"CPT1A","entity_type":"gene"},{"created":"2021-01-29T21:50:40.742457+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPS1 was added\ngene: CPS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency\t237300","entity_name":"CPS1","entity_type":"gene"},{"created":"2021-01-29T21:50:40.695727+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CA5A was added\ngene: CA5A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CA5A were set to 24530203\nPhenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency\t615751","entity_name":"CA5A","entity_type":"gene"},{"created":"2021-01-29T21:50:40.648548+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHB was added\ngene: BCKDHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib\t248600","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2021-01-29T21:50:40.602278+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHA was added\ngene: BCKDHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia\t248600","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2021-01-29T21:50:40.553719+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AUH was added\ngene: AUH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I\t250950","entity_name":"AUH","entity_type":"gene"},{"created":"2021-01-29T21:50:40.506681+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASS1 was added\ngene: ASS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASS1 were set to 2358466\nPhenotypes for gene: ASS1 were set to Citrullinemia\t215700","entity_name":"ASS1","entity_type":"gene"},{"created":"2021-01-29T21:50:40.456012+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASL was added\ngene: ASL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASL were set to 2263616; 12408190\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria\t207900","entity_name":"ASL","entity_type":"gene"},{"created":"2021-01-29T21:50:40.407745+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARG1 was added\ngene: ARG1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to Argininemia 207800","entity_name":"ARG1","entity_type":"gene"},{"created":"2021-01-29T21:50:40.357933+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH18A1 were set to 24767728; 11092761\nPhenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2021-01-29T21:50:40.309232+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADVL was added\ngene: ACADVL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VLCAD deficiency\t201475","entity_name":"ACADVL","entity_type":"gene"},{"created":"2021-01-29T21:50:40.258846+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADM was added\ngene: ACADM was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of\t201450","entity_name":"ACADM","entity_type":"gene"},{"created":"2021-01-29T21:50:40.226725+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Added panel Hyperammonaemia","entity_name":null,"entity_type":null},{"created":"2021-01-29T18:20:30.503134+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:UBB from the panel","entity_name":null,"entity_type":null},{"created":"2021-01-29T18:05:42.339105+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:GYPE from the panel","entity_name":null,"entity_type":null},{"created":"2021-01-29T18:02:33.729079+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.31","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PGM1 as Green List (high evidence)","entity_name":"PGM1","entity_type":"gene"},{"created":"2021-01-29T18:02:33.721067+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.31","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pgm1 has been classified as Green List (High Evidence).","entity_name":"PGM1","entity_type":"gene"},{"created":"2021-01-29T17:58:23.172000+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLX4 as ready","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:58:23.161203+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx4 has been classified as Red List (Low Evidence).","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:58:20.119494+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLX4 were changed from nonsyndromic cleft/lip palate (CL/P); OFC15; OROFACIAL CLEFT 15; ?Orofacial cleft 15, 616788 to Orofacial cleft 15, MIM# 616788","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:58:09.157483+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLX4 were set to 25954033","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:55:32.645621+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLX4 as Red List (low evidence)","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:55:32.636251+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx4 has been classified as Red List (Low Evidence).","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:55:23.766054+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DLX4: Rating: RED; Mode of pathogenicity: None; Publications: 25954033, 29738288; Phenotypes: Orofacial cleft 15, MIM# 616788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:54:52.045291+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLX4 as ready","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:54:52.030465+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx4 has been classified as Red List (Low Evidence).","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:54:33.658595+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6133","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLX4 was added\ngene: DLX4 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLX4 were set to 25954033; 29738288\nPhenotypes for gene: DLX4 were set to Orofacial cleft 15, MIM#\t616788\nReview for gene: DLX4 was set to RED\nAdded comment: Single family reported and a SNP association study. \nSources: Expert list","entity_name":"DLX4","entity_type":"gene"},{"created":"2021-01-29T17:51:08.200297+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLG1 as ready","entity_name":"DLG1","entity_type":"gene"},{"created":"2021-01-29T17:51:08.192048+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlg1 has been classified as Red List (Low Evidence).","entity_name":"DLG1","entity_type":"gene"},{"created":"2021-01-29T17:50:55.290893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6132","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLG1 was added\ngene: DLG1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DLG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLG1 were set to 28926086\nPhenotypes for gene: DLG1 were set to Non-syndromic cleft lip and palate\nReview for gene: DLG1 was set to RED\nAdded comment: GWAS study PMID: 28926086 found genome-wide significance for several SNPs within this gene, identifying it as a candidate gene for non-syndromic cleft lip with or without cleft palate. \nSources: Expert list","entity_name":"DLG1","entity_type":"gene"},{"created":"2021-01-29T15:03:11.445252+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF8","entity_type":"gene"},{"created":"2021-01-29T15:01:11.514923+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF8 as ready","entity_name":"PHF8","entity_type":"gene"},{"created":"2021-01-29T15:01:11.497086+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf8 has been classified as Green List (High Evidence).","entity_name":"PHF8","entity_type":"gene"},{"created":"2021-01-29T15:01:08.732591+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHF8 were changed from MRXSSD; SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; Cleft lip to Mental retardation syndrome, X-linked, Siderius type, 300263","entity_name":"PHF8","entity_type":"gene"},{"created":"2021-01-29T14:59:35.232359+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHF8 were set to ","entity_name":"PHF8","entity_type":"gene"},{"created":"2021-01-29T14:57:55.685115+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCB4 as ready","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-01-29T14:57:55.677728+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcb4 has been classified as Green List (High Evidence).","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-01-29T14:57:53.278769+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCB4 were changed from Cleft palate to Auriculocondylar syndrome 2, MIM# 614669; Cleft palate","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-01-29T14:57:42.687133+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLCB4 were set to ","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-01-29T14:57:34.192840+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: PLCB4 was changed from  to Other","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-01-29T14:57:28.420590+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLCB4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-01-29T14:56:52.702658+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLCB4 as Green List (high evidence)","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-01-29T14:56:52.692465+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcb4 has been classified as Green List (High Evidence).","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-01-29T14:56:44.355393+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315542, 23913798; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-01-29T14:52:19.908683+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEKHA5 as ready","entity_name":"PLEKHA5","entity_type":"gene"},{"created":"2021-01-29T14:52:19.901581+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plekha5 has been classified as Amber List (Moderate Evidence).","entity_name":"PLEKHA5","entity_type":"gene"},{"created":"2021-01-29T14:52:17.021615+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEKHA5 were changed from cleft lip to Cleft lip and palate","entity_name":"PLEKHA5","entity_type":"gene"},{"created":"2021-01-29T14:51:59.469573+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLEKHA5 as Amber List (moderate evidence)","entity_name":"PLEKHA5","entity_type":"gene"},{"created":"2021-01-29T14:51:59.459411+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plekha5 has been classified as Amber List (Moderate Evidence).","entity_name":"PLEKHA5","entity_type":"gene"},{"created":"2021-01-29T14:50:36.387093+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEKHA7 as ready","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:50:36.373563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plekha7 has been classified as Amber List (Moderate Evidence).","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:50:27.441628+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEKHA7 were changed from  to Cleft lip and palate","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:50:01.936749+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6130","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLEKHA7 were set to ","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:49:38.519078+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6129","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLEKHA7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:49:21.439744+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6128","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLEKHA7 as Amber List (moderate evidence)","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:49:21.429341+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plekha7 has been classified as Amber List (Moderate Evidence).","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:49:03.265069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6127","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip and palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:48:17.638775+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEKHA7 as ready","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:48:17.628675+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plekha7 has been classified as Amber List (Moderate Evidence).","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:48:15.624162+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEKHA7 were changed from cleft lip to Cleft lip and palate","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:47:54.946319+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PLEKHA7","entity_type":"gene"},{"created":"2021-01-29T14:40:16.375199+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL11 as ready","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-01-29T14:40:16.364556+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl11 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-01-29T14:40:14.045836+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPL11 were changed from Cleft palate to Diamond-Blackfan anemia 7, MIM# 612562; Cleft palate","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-01-29T14:40:03.371893+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-01-29T14:39:54.382319+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL11 as Amber List (moderate evidence)","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-01-29T14:39:54.374503+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl11 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-01-29T14:39:44.286751+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-01-29T14:31:51.928672+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPO2 as ready","entity_name":"RSPO2","entity_type":"gene"},{"created":"2021-01-29T14:31:51.915114+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rspo2 has been classified as Green List (High Evidence).","entity_name":"RSPO2","entity_type":"gene"},{"created":"2021-01-29T14:31:49.075087+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPO2 were changed from Cleft lip to Tetraamelia syndrome 2, MIM# 618021; Cleft lip and palate","entity_name":"RSPO2","entity_type":"gene"},{"created":"2021-01-29T14:31:34.545020+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPO2 were set to ","entity_name":"RSPO2","entity_type":"gene"},{"created":"2021-01-29T14:31:24.727597+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPO2","entity_type":"gene"},{"created":"2021-01-29T14:31:14.538106+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSPO2 as Green List (high evidence)","entity_name":"RSPO2","entity_type":"gene"},{"created":"2021-01-29T14:31:14.529806+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rspo2 has been classified as Green List (High Evidence).","entity_name":"RSPO2","entity_type":"gene"},{"created":"2021-01-29T14:31:04.958822+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29769720, 32457899; Phenotypes: Tetraamelia syndrome 2, MIM# 618021; Mode of inheritance: None","entity_name":"RSPO2","entity_type":"gene"},{"created":"2021-01-29T14:26:32.068411+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX1 as ready","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-01-29T14:26:32.060367+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx1 has been classified as Green List (High Evidence).","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-01-29T14:26:28.302716+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX1 were changed from CTHM; CONOTRUNCAL HEART MALFORMATIONS; Cleft palate to Velocardiofacial syndrome, MIM# 192430; Cleft palate","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-01-29T14:26:14.281442+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX1 were set to ","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-01-29T14:26:05.550590+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBX1 as Green List (high evidence)","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-01-29T14:26:05.538608+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx1 has been classified as Green List (High Evidence).","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-01-29T14:25:58.509072+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: TBX1.","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-01-29T14:25:48.467955+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29500247; Phenotypes: Velocardiofacial syndrome, MIM# 192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-01-29T14:17:14.601049+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBX2 was added\ngene: TBX2 was added to Clefting_GEL. Sources: Expert list\nMode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX2 were set to 29726930\nPhenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM#\t618223\nReview for gene: TBX2 was set to RED\nAdded comment: Four individuals reported from two unrelated families with a syndromic disorder, chiefly comprising skeletal, endocrine and immune abnormalities, reminiscent of VCFS. One of the four reported individuals had unilateral cleft lip/palate. \nSources: Expert list","entity_name":"TBX2","entity_type":"gene"},{"created":"2021-01-29T14:14:39.544291+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6127","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17594715; Phenotypes: Alstrom syndrome MIM#203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALMS1","entity_type":"gene"},{"created":"2021-01-29T14:11:42.660824+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFAP2B as ready","entity_name":"TFAP2B","entity_type":"gene"}]}