{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1628","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1626","results":[{"created":"2020-08-31T16:06:02.406311+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4M1 were set to ","entity_name":"AP4M1","entity_type":"gene"},{"created":"2020-08-31T16:05:35.355162+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4M1","entity_type":"gene"},{"created":"2020-08-31T15:59:25.228306+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Ain Roesley","item_type":"entity","text":"gene: BLM was added\ngene: BLM was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLM were set to 30214071\nPhenotypes for gene: BLM were set to Bloom syndrome\t(MIM#210900)\nPenetrance for gene: BLM were set to unknown\nReview for gene: BLM was set to RED\nAdded comment: Microcephaly is a feature of Bloom Syndrome, however there is limited evidence for the association of microcephaly with BLM gene specifically.\r\n\r\nPMID: 30214071;\r\nin a cohort of microcephalic patients (<=-2SD), 1 family with 2 affecteds are homozygous for a nonsense variant \nSources: Literature","entity_name":"BLM","entity_type":"gene"},{"created":"2020-08-31T13:59:24.293003+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Ain Roesley","item_type":"entity","text":"gene: ATRIP was added\ngene: ATRIP was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATRIP were set to 23144622\nPhenotypes for gene: ATRIP were set to Seckel Syndrome\nPenetrance for gene: ATRIP were set to unknown\nReview for gene: ATRIP was set to RED\nAdded comment: PMID: 23144622;\r\n- 1x proband from a consanguineous family\r\n- progressive severe microcephaly (-9 to -10SD)\r\n- cHet for a nonsense and a splice \nSources: Literature","entity_name":"ATRIP","entity_type":"gene"},{"created":"2020-08-31T13:48:50.985636+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30690204, 31608932; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-08-31T13:17:03.902235+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27476655; Phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ARCN1","entity_type":"gene"},{"created":"2020-08-31T12:15:28.001156+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 25552650, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive (MIM#614067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4S1","entity_type":"gene"},{"created":"2020-08-31T11:53:29.835368+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: AP4M1: Changed publications: 28464862, 24700674","entity_name":"AP4M1","entity_type":"gene"},{"created":"2020-08-31T11:53:22.386132+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: PMID: 28464862;\r\n- 1x with severe progressive microcephaly (< - 4 SD)\r\n- homozygous nonsense\r\n\r\nPMID: 24700674;\r\n- 2x unrelated patients (1 and 3) < -3 SD head circumference\r\n- 2x homozygous nonsense \r\n\r\nPMID: 21620353 ;\r\n- 3 families with 4 affecteds ( < -3 SD)\r\n- all PTVs; to: PMID: 28464862;\r\n- 1x with severe progressive microcephaly (< - 4 SD)\r\n- homozygous nonsense\r\n\r\nPMID: 24700674;\r\n- 2x unrelated patients (1 and 3) < -3 SD head circumference\r\n- 2x homozygous nonsense ","entity_name":"AP4M1","entity_type":"gene"},{"created":"2020-08-31T11:49:24.978638+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28464862, 24700674, 21620353; Phenotypes: Spastic paraplegia 50, autosomal recessive (MIM#612936); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4M1","entity_type":"gene"},{"created":"2020-08-31T10:28:05.216286+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Activating variants in AKT2 and micro duplications are associated with macrocephaly/megalencephaly. Note that deletions involving AKT3 have consistently been associated with microcephaly. However, most involve at least one other gene apart from AKT3. One family reported with only AKT3 deleted: deletion was inherited from a phenotypically normal parent, suggesting either additional effects in bigger deletions or incomplete penetrance.; to: Activating variants in AKT3 and micro duplications are associated with macrocephaly/megalencephaly. Note that deletions involving AKT3 have consistently been associated with microcephaly. However, most involve at least one other gene apart from AKT3. One family reported with only AKT3 deleted: deletion was inherited from a phenotypically normal parent, suggesting either additional effects in bigger deletions or incomplete penetrance.","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-31T10:22:56.991439+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKT3 as ready","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-31T10:22:56.980729+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt3 has been classified as Amber List (Moderate Evidence).","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-31T10:22:54.276815+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKT3 were changed from  to Microcephaly","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-31T10:22:36.984703+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKT3 were set to ","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-31T10:21:30.503975+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-31T10:19:47.932479+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AKT3 as Amber List (moderate evidence)","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-31T10:19:47.920497+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt3 has been classified as Amber List (Moderate Evidence).","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-31T10:19:18.933180+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: AKT3.","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-31T10:19:09.950806+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32827175, 31929334, 30853971, 30053339, 25424989; Phenotypes: Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-30T15:59:47.114253+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2905","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4E1 as ready","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:59:47.103815+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2905","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4e1 has been classified as Green List (High Evidence).","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:59:43.989058+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2905","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4E1 were changed from  to Spastic paraplegia 51, autosomal recessive, MIM# 613744","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:59:19.850024+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2904","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4E1 were set to ","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:58:49.503436+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2903","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP4E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:58:23.408720+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:57:43.354592+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4E1 as ready","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:57:43.345839+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4e1 has been classified as Green List (High Evidence).","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:57:36.205629+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4E1 were changed from  to Spastic paraplegia 51, autosomal recessive, MIM# 613744","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:57:10.546373+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4E1 were set to ","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:56:42.762705+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP4E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:56:20.670678+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:55:51.233315+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4034","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4E1 as ready","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:55:51.222909+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4034","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4e1 has been classified as Green List (High Evidence).","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:55:44.969991+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4034","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4E1 were changed from  to Spastic paraplegia 51, autosomal recessive, MIM# 613744","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:55:27.917662+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4033","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4E1 were set to ","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:55:12.855470+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4032","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP4E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:54:56.099164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4031","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:53:55.781542+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4E1 as ready","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:53:55.770857+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4e1 has been classified as Green List (High Evidence).","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:53:52.258379+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4E1 were changed from  to Spastic paraplegia 51, autosomal recessive, MIM# 613744","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:53:08.519908+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4E1 were set to ","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:52:46.128953+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP4E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:52:18.793677+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4E1","entity_type":"gene"},{"created":"2020-08-30T15:49:27.384829+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4B1 as ready","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:49:27.376513+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4b1 has been classified as Green List (High Evidence).","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:49:25.267526+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4B1 were changed from  to Spastic paraplegia 47, autosomal recessive, MIM# 614066","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:49:00.586671+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4B1 were set to ","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:48:40.407571+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:48:17.868989+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:47:31.741446+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4031","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4B1 as ready","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:47:31.731579+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4031","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4b1 has been classified as Green List (High Evidence).","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:47:26.224683+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4031","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4B1 were changed from  to Spastic paraplegia 47, autosomal recessive, MIM# 614066","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:47:11.244824+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4030","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4B1 were set to ","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:46:56.388538+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4029","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:46:39.344022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4028","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:44:37.162872+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4B1 as ready","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:44:37.152232+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4b1 has been classified as Green List (High Evidence).","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:44:10.290274+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4B1 were changed from  to Spastic paraplegia 47, autosomal recessive, MIM# 614066","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:43:48.524877+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4B1 were set to ","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:43:23.081909+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:42:50.881329+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4B1","entity_type":"gene"},{"created":"2020-08-30T15:39:57.272447+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4028","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANKLE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25259927, 30214071, 31735666; Phenotypes: Microcephaly 16, primary, autosomal recessive, MIM# 616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANKLE2","entity_type":"gene"},{"created":"2020-08-30T15:39:49.040702+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKLE2 as ready","entity_name":"ANKLE2","entity_type":"gene"},{"created":"2020-08-30T15:39:49.030322+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankle2 has been classified as Green List (High Evidence).","entity_name":"ANKLE2","entity_type":"gene"},{"created":"2020-08-30T15:39:37.222134+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKLE2 were changed from  to Microcephaly 16, primary, autosomal recessive, MIM# 616681","entity_name":"ANKLE2","entity_type":"gene"},{"created":"2020-08-30T15:39:16.798787+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANKLE2 were set to ","entity_name":"ANKLE2","entity_type":"gene"},{"created":"2020-08-30T15:38:50.493069+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANKLE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANKLE2","entity_type":"gene"},{"created":"2020-08-30T15:36:55.609089+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANKLE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25259927, 30214071, 31735666; Phenotypes: Microcephaly 16, primary, autosomal recessive, MIM# 616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANKLE2","entity_type":"gene"},{"created":"2020-08-29T21:56:44.392389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4028","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN2 as ready","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:56:44.381609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4028","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen2 has been classified as Green List (High Evidence).","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:55:43.091647+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN2 as ready","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:55:43.081944+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen2 has been classified as Green List (High Evidence).","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:55:39.846671+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN2 were changed from  to Pontocerebellar hypoplasia type 2B, MIM# 612389","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:55:13.140562+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN2 were set to ","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:54:46.736717+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:54:22.842815+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562994, 20952379; Phenotypes: Pontocerebellar hypoplasia type 2B, MIM# 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:53:14.521187+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4028","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN2 were changed from  to Pontocerebellar hypoplasia type 2B, MIM# 612389","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:52:54.453043+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4027","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN2 were set to ","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:52:43.273961+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4026","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:52:23.482554+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4025","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TSEN2: Added comment: At least 3 unrelated families reported.; Changed rating: GREEN; Changed publications: 23562994, 20952379; Changed phenotypes: Pontocerebellar hypoplasia type 2B, MIM# 612389","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T21:49:53.275750+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4025","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"TSEN2","entity_type":"gene"},{"created":"2020-08-29T18:36:15.535723+10:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZSWIM6 as ready","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:36:15.527154+10:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zswim6 has been classified as Green List (High Evidence).","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:34:51.526865+10:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZSWIM6 were changed from  to Acromelic frontonasal dysostosis, MIM# 603671","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:34:30.959828+10:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZSWIM6 were set to ","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:34:05.852801+10:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:33:38.493384+10:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25105228, 26706854; Phenotypes: Acromelic frontonasal dysostosis, MIM# 603671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:32:33.477378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4025","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZSWIM6 as ready","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:32:33.469418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4025","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zswim6 has been classified as Green List (High Evidence).","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:32:26.811162+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4025","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZSWIM6 were changed from  to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865; Acromelic frontonasal dysostosis, MIM# 603671","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:32:11.152582+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4024","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZSWIM6 were set to ","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:31:57.555803+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4023","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:31:38.135555+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4022","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198722, 25105228, 26706854; Phenotypes: Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865, Acromelic frontonasal dysostosis, MIM# 603671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-08-29T18:25:42.260160+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCB11 were set to 23141890","entity_name":"ABCB11","entity_type":"gene"},{"created":"2020-08-29T18:25:07.956653+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 16871584, 23141890, 9806540, 15300568, 11172067; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCB11","entity_type":"gene"},{"created":"2020-08-29T18:23:58.023593+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4022","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCB11 as ready","entity_name":"ABCB11","entity_type":"gene"},{"created":"2020-08-29T18:23:58.013140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4022","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcb11 has been classified as Green List (High Evidence).","entity_name":"ABCB11","entity_type":"gene"},{"created":"2020-08-29T18:23:44.622682+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4022","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCB11 were changed from  to Cholestasis, progressive familial intrahepatic 2, MIM# 601847; Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479","entity_name":"ABCB11","entity_type":"gene"},{"created":"2020-08-29T18:23:28.469409+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4021","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCB11 were set to ","entity_name":"ABCB11","entity_type":"gene"}]}