{"count":220403,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1293","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1291","results":[{"created":"2021-06-18T07:35:13.504714+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1121","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCDN were changed from neurodevelopmental delay, intellectual disability, and epilepsy to Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-06-18T07:34:45.654263+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1120","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373; Mode of inheritance: None","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-06-18T07:34:13.173720+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8057","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCDN were changed from neurodevelopmental delay, intellectual disability, and epilepsy to Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-06-18T07:33:39.511588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8056","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373; Mode of inheritance: None","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-06-17T20:36:39.242647+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAX1 as ready","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:36:39.231562+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hax1 has been classified as Green List (High Evidence).","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:36:35.862827+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HAX1 were changed from  to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:35:21.011007+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HAX1 were set to ","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:34:56.561321+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:34:29.438197+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:33:35.980282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8056","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAX1 as ready","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:33:35.970517+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8056","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hax1 has been classified as Green List (High Evidence).","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:33:28.242329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8056","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HAX1 were changed from  to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:33:09.291731+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8055","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HAX1 were set to ","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:32:50.467199+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8054","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:32:29.350256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8053","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:32:06.180717+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAX1 as ready","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:32:06.168087+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hax1 has been classified as Green List (High Evidence).","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:31:59.764546+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HAX1 were changed from  to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:31:31.474323+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HAX1 were set to ","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:31:08.857502+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T20:30:34.872118+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-06-17T16:41:54.221680+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.633","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NFS1 were set to 24498631","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-06-17T16:41:22.772470+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.632","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFS1 were changed from Complex II/III deficiency; multisystem organ failure to Combined oxidative phosphorylation deficiency 52, MIM#619386; Complex II/III deficiency; multisystem organ failure","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-06-17T16:40:43.782131+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.631","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NFS1: Changed phenotypes: Combined oxidative phosphorylation deficiency 52, MIM#619386, Complex II/III deficiency, multisystem organ failure","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-06-17T16:40:05.129826+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8053","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFS1 were changed from Complex II/III deficiency; multisystem organ failure to Combined oxidative phosphorylation deficiency 52, MIM#619386; Complex II/III deficiency; multisystem organ failure","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-06-17T16:39:43.731230+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8052","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NFS1 were set to 24498631","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-06-17T16:39:19.277375+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8051","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NFS1: Changed phenotypes: Combined oxidative phosphorylation deficiency 52, MIM#619386, Complex II/III deficiency, multisystem organ failure","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-06-17T16:38:28.048354+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.631","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-06-17T16:37:59.940759+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-06-17T16:36:47.607110+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-06-17T16:36:16.036844+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNAJC30: Changed phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-06-17T16:35:49.112282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8051","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-06-17T16:35:30.622849+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8050","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNAJC30: Changed phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-06-17T16:34:21.404495+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYL9 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365","entity_name":"MYL9","entity_type":"gene"},{"created":"2021-06-17T16:33:37.635634+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8050","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYL9 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365","entity_name":"MYL9","entity_type":"gene"},{"created":"2021-06-17T16:33:18.830616+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8049","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYL9: Changed phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365","entity_name":"MYL9","entity_type":"gene"},{"created":"2021-06-17T16:33:02.071446+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYL9: Changed phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365","entity_name":"MYL9","entity_type":"gene"},{"created":"2021-06-16T20:20:38.505783+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3885","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARCN1 as ready","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:20:38.493868+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3885","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arcn1 has been classified as Green List (High Evidence).","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:18:19.149074+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3885","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARCN1 were changed from  to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:17:50.560991+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3884","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARCN1 were set to ","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:17:21.102339+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3883","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:16:47.924456+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3882","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476655, 33154040; Phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:16:47.252919+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8049","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARCN1 were changed from  to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:16:29.842339+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8048","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARCN1 were set to ","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:16:11.030014+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8047","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:15:49.364599+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8046","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476655, 33154040; Phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARCN1","entity_type":"gene"},{"created":"2021-06-16T20:09:05.901473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8046","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NBEAL2 as ready","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:09:05.891946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8046","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nbeal2 has been classified as Green List (High Evidence).","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:08:57.534294+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8046","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NBEAL2 were changed from  to Gray platelet syndrome, MIM# 139090","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:06:27.844902+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8045","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NBEAL2 were set to ","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:06:00.028240+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8044","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NBEAL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:05:34.802808+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8043","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21765412, 21765411, 21765413; Phenotypes: Gray platelet syndrome, MIM# 139090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:04:50.613992+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NBEAL2 as ready","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:04:50.604142+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nbeal2 has been classified as Green List (High Evidence).","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:01:17.516850+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NBEAL2 were changed from  to Gray platelet syndrome, MIM# 139090","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:00:33.742740+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.273","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NBEAL2 were set to ","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T20:00:14.572526+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NBEAL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-06-16T19:59:04.154243+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFI1 as ready","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:59:04.143574+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfi1 has been classified as Green List (High Evidence).","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:59:00.934570+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFI1 were changed from  to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:58:38.365757+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFI1 were set to ","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:58:01.425998+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:57:10.096956+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:56:34.285894+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8043","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFI1 as ready","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:56:34.275394+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8043","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfi1 has been classified as Green List (High Evidence).","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:56:25.660314+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8043","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFI1 were changed from  to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:56:06.284757+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8042","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFI1 were set to ","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:55:44.367766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8041","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:55:25.715332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8040","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:54:36.241880+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFI1 as ready","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:54:36.231277+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfi1 has been classified as Green List (High Evidence).","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:54:33.894383+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFI1 were changed from  to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:54:10.741435+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFI1 were set to ","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:53:53.335521+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:53:17.533754+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-06-16T19:49:20.649297+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1R13L as ready","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2021-06-16T19:49:20.639624+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r13l has been classified as Green List (High Evidence).","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2021-06-16T19:49:04.648243+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP1R13L as Green List (high evidence)","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2021-06-16T19:49:04.634984+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r13l has been classified as Green List (High Evidence).","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2021-06-16T19:48:53.922206+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPP1R13L was added\ngene: PPP1R13L was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R13L were set to 32666529; 28864777\nPhenotypes for gene: PPP1R13L were set to Dilated cardiomyopathy, onset in infancy; Cleft lip and palate\nReview for gene: PPP1R13L was set to GREEN\nAdded comment: At least 6 unrelated families. NMD-predicted, missense and stop-loss (extension) variants have been reported in individuals with autosomal recessive PPP1R13L-related syndrome. Patients described with biallelic pathogenic variants in PPP1R13L all had severe infantile-onset dilated cardiomyopathy, with additional features including cleft lip and palate, wedge-shaped teeth, and sparse, dry, woolly hair described in several individuals. Death due to HF progression before 5yo reported in cases that didn't receive a heart transplant. Cognitive delay also reported in two unrelated individuals (PMID: 28069640, PMID: 32666529). \nSources: Expert Review","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2021-06-16T19:46:22.205553+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3882","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC13A5 as ready","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:46:22.193707+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3882","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc13a5 has been classified as Green List (High Evidence).","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:46:18.132811+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3882","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC13A5 were changed from  to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:45:44.465887+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3881","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC13A5 were set to ","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:45:15.884463+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3880","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC13A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:44:42.715357+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3879","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905, MONDO:0014392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:43:59.758859+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8040","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC13A5 as ready","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:43:59.741378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8040","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc13a5 has been classified as Green List (High Evidence).","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:43:50.684775+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8040","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC13A5 were changed from  to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:43:30.458820+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8039","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC13A5 were set to ","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:43:11.554134+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8038","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC13A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:42:53.833348+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8037","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905, MONDO:0014392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:40:59.984347+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC13A5 as ready","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:40:59.968828+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc13a5 has been classified as Green List (High Evidence).","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:40:51.784818+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1120","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC13A5 were set to ","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:40:23.983351+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1119","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC13A5 were changed from  to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T19:39:56.387384+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1118","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC13A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-06-16T12:48:34.718723+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.92","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28069640, 32666529; Phenotypes: PPP1R13L-related syndrome, Dilated cardiomyopathy (severe infantile-onset); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPP1R13L","entity_type":"gene"}]}