{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1612","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1610","results":[{"created":"2020-09-03T13:29:09.696044+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PUF60 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PUF60","entity_type":"gene"},{"created":"2020-09-03T13:28:45.854454+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: None; Publications: 28327570; Phenotypes: Verheij syndrome, MIM# 615583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PUF60","entity_type":"gene"},{"created":"2020-09-03T13:24:50.964172+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.386","user_name":"Teresa Zhao","item_type":"entity","text":"Deleted their review","entity_name":"COL9A1","entity_type":"gene"},{"created":"2020-09-03T13:24:10.578486+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.386","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16909383, 2142186, 11565064; Phenotypes: Stickler syndrome, type IV (MIM#614134) AR, ?Multiple epiphyseal dysplasia 6 (MIM#614135) AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A1","entity_type":"gene"},{"created":"2020-09-03T13:22:03.578800+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN23 as ready","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:22:03.568595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn23 has been classified as Green List (High Evidence).","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:21:43.216255+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPN23 were changed from  to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:20:57.753814+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPN23 were set to ","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:20:40.043953+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4161","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:20:22.469200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4160","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947, 29899372, 29090338, 27848944, 25558065; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:19:00.575536+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN23 as ready","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:19:00.564551+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn23 has been classified as Green List (High Evidence).","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:18:56.198887+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPN23 were changed from  to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:18:34.339374+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPN23 were set to ","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:18:07.404594+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:17:36.898764+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947, 29899372, 29090338, 27848944, 25558065; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:13:01.897133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRUNE1 as ready","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:13:01.885376+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prune1 has been classified as Green List (High Evidence).","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:12:54.135495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4160","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRUNE1 were changed from  to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:12:35.117557+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4159","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRUNE1 were set to ","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:12:14.270171+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4158","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRUNE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:11:57.087409+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4157","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891, 28334956; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:11:20.610649+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRUNE1 as ready","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:11:20.599097+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prune1 has been classified as Green List (High Evidence).","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:11:11.738880+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRUNE1 as Green List (high evidence)","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:11:11.728769+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prune1 has been classified as Green List (High Evidence).","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:09:17.407253+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRUNE1 was added\ngene: PRUNE1 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRUNE1 were set to 26539891; 28334956\nPhenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies\t, MIM#617481\nReview for gene: PRUNE1 was set to GREEN\nAdded comment: 8 unrelated families reported with an autosomal recessive neurodevelopmental, and neurodegenerative disorder characterised by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination \nSources: Expert list","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2020-09-03T13:04:39.671438+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1R15B as ready","entity_name":"PPP1R15B","entity_type":"gene"},{"created":"2020-09-03T13:04:39.661951+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).","entity_name":"PPP1R15B","entity_type":"gene"},{"created":"2020-09-03T13:04:36.334555+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP1R15B were changed from  to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817","entity_name":"PPP1R15B","entity_type":"gene"},{"created":"2020-09-03T13:01:52.247866+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPP1R15B were set to ","entity_name":"PPP1R15B","entity_type":"gene"},{"created":"2020-09-03T13:01:23.697919+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PPP1R15B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPP1R15B","entity_type":"gene"},{"created":"2020-09-03T13:01:06.693665+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP1R15B as Amber List (moderate evidence)","entity_name":"PPP1R15B","entity_type":"gene"},{"created":"2020-09-03T13:01:06.685176+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).","entity_name":"PPP1R15B","entity_type":"gene"},{"created":"2020-09-03T13:00:40.514044+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPP1R15B","entity_type":"gene"},{"created":"2020-09-03T12:49:39.230918+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMT1 as ready","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-09-03T12:49:39.219424+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomt1 has been classified as Green List (High Evidence).","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-09-03T12:49:36.144668+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMT1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-09-03T12:49:12.179369+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-09-03T12:48:30.402638+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-09-03T12:47:21.525971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POGZ as ready","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:47:21.517748+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pogz has been classified as Green List (High Evidence).","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:47:14.991948+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4157","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POGZ were changed from  to White-Sutton syndrome, MIM# 616364","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:46:57.822619+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4156","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POGZ were set to ","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:46:45.674574+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4155","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POGZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:46:23.739148+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4154","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POGZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942287, 26739615; Phenotypes: White-Sutton syndrome, MIM# 616364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:42:37.370431+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POGZ as ready","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:42:37.358732+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pogz has been classified as Green List (High Evidence).","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:42:34.944855+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POGZ were changed from  to White-Sutton syndrome, MIM# 616364","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:42:08.303561+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POGZ were set to ","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:34:32.067931+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POGZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:34:04.197189+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POGZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942287; Phenotypes: White-Sutton syndrome, MIM# 616364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POGZ","entity_type":"gene"},{"created":"2020-09-03T12:29:27.058028+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4154","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POC1A as ready","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:29:27.047563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: poc1a has been classified as Green List (High Evidence).","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:29:20.638098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4154","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from  to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:29:03.929043+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4153","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POC1A were set to ","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:28:47.652673+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4152","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POC1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:28:29.681994+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4151","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22840364, 22840363, 26374189, 26162852, 26791357; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:27:28.196197+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POC1A as ready","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:27:28.184763+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: poc1a has been classified as Green List (High Evidence).","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:26:44.100857+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POC1A were changed from  to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:26:26.311331+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.385","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POC1A as Green List (high evidence)","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:26:26.301232+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.385","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: poc1a has been classified as Green List (High Evidence).","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:25:59.198248+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POC1A: Changed rating: GREEN","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:25:51.348867+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POC1A: Changed phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:25:40.954479+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POC1A was added\ngene: POC1A was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC1A were set to 22840364; 22840363; 26374189; 26162852; 26791357\nAdded comment: SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Over 5 unrelated families reported. \nSources: Expert list","entity_name":"POC1A","entity_type":"gene"},{"created":"2020-09-03T12:21:06.365801+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2943","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLK4 as ready","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:21:06.352597+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2943","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk4 has been classified as Green List (High Evidence).","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:20:58.584684+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2943","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLK4 were changed from  to Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:20:27.568547+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2942","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLK4 were set to ","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:20:03.350534+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2941","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:16:19.997263+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2940","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:15:31.776638+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLK4 as ready","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:15:31.768215+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk4 has been classified as Green List (High Evidence).","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:15:29.140378+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLK4 were changed from  to Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:15:21.206728+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLK4 were set to ","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:15:12.978598+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:15:02.917332+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:14:26.209999+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4151","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLK4 as ready","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:14:26.196592+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4151","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk4 has been classified as Green List (High Evidence).","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:14:19.525713+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4151","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLK4 were changed from  to Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:14:00.263659+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4150","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLK4 were set to ","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:13:31.488067+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4149","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:13:08.531533+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4148","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:12:20.265290+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLK4 as ready","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:12:20.254573+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk4 has been classified as Green List (High Evidence).","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:12:16.282954+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLK4 as Green List (high evidence)","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:12:16.274655+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk4 has been classified as Green List (High Evidence).","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:11:41.860984+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.382","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLK4 was added\ngene: PLK4 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLK4 were set to 25344692; 25320347; 27650967\nPhenotypes for gene: PLK4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171\nReview for gene: PLK4 was set to GREEN\nAdded comment: At least 3 unrelated families reported with autosomal recessive developmental disorder characterised by delayed psychomotor development, visual impairment, and microcephaly. \nSources: Expert list","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-09-03T12:06:19.017481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGH as ready","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:06:19.009289+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigh has been classified as Green List (High Evidence).","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:06:12.238178+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGH were changed from  to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:05:55.363514+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4147","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGH were set to ","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:05:27.250935+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4146","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:05:09.801442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4145","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573052, 29603516; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:03:19.492166+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.381","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGH as ready","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:03:19.481022+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.381","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigh has been classified as Amber List (Moderate Evidence).","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:03:16.761660+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.381","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGH were changed from  to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:02:50.633938+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGH were set to ","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:02:30.097619+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.379","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGH","entity_type":"gene"}]}