{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1363","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1361","results":[{"created":"2021-04-05T21:29:38.728438+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: men1 has been classified as Green List (High Evidence).","entity_name":"MEN1","entity_type":"gene"},{"created":"2021-04-05T21:23:21.114186+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7014","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP24A1 as ready","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:23:21.104421+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7014","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp24a1 has been classified as Green List (High Evidence).","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:23:14.013207+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7014","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP24A1 were changed from  to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:22:56.081395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7013","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP24A1 were set to ","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:22:35.296503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7012","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYP24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:22:17.532321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7011","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21675912, 22047572, 33516786, 33186763, 32866123, 32743688; Phenotypes: Hypercalcaemia, infantile, 1, MIM# 143880, MONDO:0020739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:21:55.175756+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP24A1 were changed from Hypercalcaemia, infantile, 1, MIM# 143880 to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:21:30.380233+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CYP24A1: Changed phenotypes: Hypercalcaemia, infantile, 1, MIM# 143880, MONDO:0020739","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:20:07.317870+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP24A1 as ready","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:20:07.298102+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp24a1 has been classified as Green List (High Evidence).","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:19:35.120004+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP24A1 were changed from  to Hypercalcaemia, infantile, 1, MIM# 143880","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:19:18.517871+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP24A1 were set to ","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:18:48.789378+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYP24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:18:23.653612+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21675912, 22047572, 33516786, 33186763, 32866123, 32743688; Phenotypes: Hypercalcaemia, infantile, 1, MIM# 143880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP24A1","entity_type":"gene"},{"created":"2021-04-05T21:15:09.521466+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC73 as ready","entity_name":"CDC73","entity_type":"gene"},{"created":"2021-04-05T21:15:09.512284+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc73 has been classified as Green List (High Evidence).","entity_name":"CDC73","entity_type":"gene"},{"created":"2021-04-05T21:15:06.168590+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDC73 were changed from  to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000","entity_name":"CDC73","entity_type":"gene"},{"created":"2021-04-05T21:14:47.287241+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDC73 were set to ","entity_name":"CDC73","entity_type":"gene"},{"created":"2021-04-05T21:14:23.808804+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDC73","entity_type":"gene"},{"created":"2021-04-05T21:13:53.749624+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434154; Phenotypes: Hyperparathyroidism-jaw tumour syndrome, MIM# 145001, Hyperparathyroidism, familial primary, MIM# 145000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDC73","entity_type":"gene"},{"created":"2021-04-05T19:53:34.997058+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASR as ready","entity_name":"CASR","entity_type":"gene"},{"created":"2021-04-05T19:53:34.986972+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casr has been classified as Green List (High Evidence).","entity_name":"CASR","entity_type":"gene"},{"created":"2021-04-05T19:53:32.448140+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASR were changed from  to Hypocalciuric hypercalcaemia, type I, MIM# 145980; Hyperparathyroidism, neonatal, MIM# 239200","entity_name":"CASR","entity_type":"gene"},{"created":"2021-04-05T19:53:07.154666+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CASR were set to ","entity_name":"CASR","entity_type":"gene"},{"created":"2021-04-05T19:52:39.164740+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CASR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CASR","entity_type":"gene"},{"created":"2021-04-05T19:52:06.508661+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7916660, 7726161, 8675635, 17698911; Phenotypes: Hypocalciuric hypercalcaemia, type I, MIM# 145980, Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CASR","entity_type":"gene"},{"created":"2021-04-05T18:58:27.453472+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926 to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:58:04.172878+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AP2S1: Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:57:48.145139+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7011","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AP2S1: Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:57:21.821883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7011","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III MIM#600740; Developmental disorder to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926; Developmental disorder","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:56:55.222753+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7010","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP2S1 were set to 33057194","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:56:34.156819+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7009","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222959, 33729479, 33168530, 3204769, 31723423, 29479578; Phenotypes: Hypocalciuric hypercalcemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:55:12.956833+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP2S1 as ready","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:55:12.947296+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap2s1 has been classified as Green List (High Evidence).","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:54:08.519245+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP2S1 were changed from  to Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:53:32.572424+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP2S1 were set to ","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:52:55.680306+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP2S1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T18:52:26.373750+10:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222959, 33729479, 33168530, 3204769, 31723423, 29479578; Phenotypes: Hypocalciuric hypercalcemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AP2S1","entity_type":"gene"},{"created":"2021-04-05T17:18:33.328019+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-04-04T20:42:28.288893+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7009","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCB7 as ready","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:42:28.279903+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7009","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcb7 has been classified as Green List (High Evidence).","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:42:21.663130+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7009","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCB7 were changed from  to Anaemia, sideroblastic, with ataxia, MIM# 301310","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:42:01.308629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7008","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCB7 were set to ","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:41:41.423871+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7007","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:41:22.544925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7006","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 10196363, 33157103, 31772327, 31511561, 26242992; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:40:34.718186+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCB7 as ready","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:40:34.707414+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcb7 has been classified as Green List (High Evidence).","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:40:31.331832+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCB7 were changed from  to Anaemia, sideroblastic, with ataxia, MIM# 301310","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:39:25.423652+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.591","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCB7 were set to ","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:39:07.287993+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.590","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:38:29.504415+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.589","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 10196363, 33157103, 31772327, 31511561, 26242992; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-04-04T20:34:26.659018+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7006","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PORCN as ready","entity_name":"PORCN","entity_type":"gene"},{"created":"2021-04-04T20:34:26.648299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: porcn has been classified as Green List (High Evidence).","entity_name":"PORCN","entity_type":"gene"},{"created":"2021-04-04T20:34:19.788582+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7006","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PORCN were changed from  to Focal dermal hypoplasia, MIM# 305600","entity_name":"PORCN","entity_type":"gene"},{"created":"2021-04-04T20:34:02.427861+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7005","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PORCN was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"PORCN","entity_type":"gene"},{"created":"2021-04-04T20:33:45.871289+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7004","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"PORCN","entity_type":"gene"},{"created":"2021-04-04T20:32:57.480347+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PORCN as ready","entity_name":"PORCN","entity_type":"gene"},{"created":"2021-04-04T20:32:57.468796+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: porcn has been classified as Green List (High Evidence).","entity_name":"PORCN","entity_type":"gene"},{"created":"2021-04-04T20:32:55.442242+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia to Focal dermal hypoplasia, MIM# 305600","entity_name":"PORCN","entity_type":"gene"},{"created":"2021-04-04T20:32:43.359430+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"PORCN","entity_type":"gene"},{"created":"2021-04-04T17:19:40.904964+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC as ready","entity_name":"EVC","entity_type":"gene"},{"created":"2021-04-04T17:19:40.894194+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc has been classified as Green List (High Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2021-04-04T17:19:36.408900+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC were changed from Weyers acrofacial dysostosis, Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530","entity_name":"EVC","entity_type":"gene"},{"created":"2021-04-04T17:19:08.441285+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EVC: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2021-04-04T17:18:51.767144+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EVC: Changed phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530","entity_name":"EVC","entity_type":"gene"},{"created":"2021-04-04T17:18:09.889632+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2021-04-04T17:17:28.377615+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2021-04-04T17:15:07.394358+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC2 as ready","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-04T17:15:07.384118+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc2 has been classified as Green List (High Evidence).","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-04T17:15:04.426895+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2 to Trichothiodystrophy 1, photosensitive, MIM# 601675","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-04T17:14:55.193691+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC2 were set to ","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-04T17:14:42.228526+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9195225, 9758621; Phenotypes: Trichothiodystrophy 1, photosensitive, MIM# 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-04T15:12:29.220603+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EDAR as ready","entity_name":"EDAR","entity_type":"gene"},{"created":"2021-04-04T15:12:29.210542+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: edar has been classified as Green List (High Evidence).","entity_name":"EDAR","entity_type":"gene"},{"created":"2021-04-04T15:12:27.418223+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EDAR were changed from Ectodermal dysplasia, anhidrotic, Hair morphology to Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900","entity_name":"EDAR","entity_type":"gene"},{"created":"2021-04-04T15:12:11.921529+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EDAR","entity_type":"gene"},{"created":"2021-04-04T15:10:24.881012+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EDA as ready","entity_name":"EDA","entity_type":"gene"},{"created":"2021-04-04T15:10:24.871054+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eda has been classified as Green List (High Evidence).","entity_name":"EDA","entity_type":"gene"},{"created":"2021-04-04T15:10:21.733283+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EDA were changed from Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective to Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100; MONDO:0010585","entity_name":"EDA","entity_type":"gene"},{"created":"2021-04-04T15:10:05.327959+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100, MONDO:0010585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"EDA","entity_type":"gene"},{"created":"2021-04-04T14:48:09.235530+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMACR as ready","entity_name":"AMACR","entity_type":"gene"},{"created":"2021-04-04T14:48:09.224117+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amacr has been classified as Green List (High Evidence).","entity_name":"AMACR","entity_type":"gene"},{"created":"2021-04-04T14:48:05.643434+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AMACR as Green List (high evidence)","entity_name":"AMACR","entity_type":"gene"},{"created":"2021-04-04T14:48:05.630322+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amacr has been classified as Green List (High Evidence).","entity_name":"AMACR","entity_type":"gene"},{"created":"2021-04-04T14:47:57.359262+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMACR was added\ngene: AMACR was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMACR were set to 21686617; 20821052; 11861706; 10655068; 15249642; 23286897\nPhenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, MIM#\t614307\nReview for gene: AMACR was set to GREEN\nAdded comment: Pigmentary retinopathy can be a presenting feature. \nSources: Expert Review","entity_name":"AMACR","entity_type":"gene"},{"created":"2021-04-04T14:42:42.417717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7004","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: PRIM1.\nTag founder tag was added to gene: PRIM1.","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:41:44.092233+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:41:29.030864+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7004","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:41:08.247524+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7004","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRIM1 as ready","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:41:08.237678+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7004","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prim1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:40:59.018959+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7004","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRIM1 as Amber List (moderate evidence)","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:40:59.009186+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7004","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prim1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:40:40.746004+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7003","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:40:24.070440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7003","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:40:08.293369+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7003","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRIM1 was added\ngene: PRIM1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRIM1 were set to 33060134\nPhenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950\nReview for gene: PRIM1 was set to AMBER\nAdded comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:39:51.050455+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRIM1 as ready","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:39:51.039761+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prim1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:37:29.017229+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: PRIM1.\nTag founder tag was added to gene: PRIM1.","entity_name":"PRIM1","entity_type":"gene"},{"created":"2021-04-04T14:37:17.680347+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.639","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRIM1 as Amber List (moderate evidence)","entity_name":"PRIM1","entity_type":"gene"}]}