{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1953","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1951","results":[{"created":"2020-01-31T20:04:27.731401+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1081","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:04:09.722503+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1080","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 22279524; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:02:42.440630+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1815","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBGCP6 as ready","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:02:42.429663+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1815","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp6 has been classified as Green List (High Evidence).","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:02:28.900007+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1815","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBGCP6 were changed from  to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:01:54.941544+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1814","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBGCP6 were set to ","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:01:32.910795+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SDR9C7 was added\ngene: SDR9C7 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SDR9C7 were set to 28173123; 28369735\nPhenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 MIM#617574\nReview for gene: SDR9C7 was set to GREEN\nAdded comment: Three homozygous variants in 4 families with congenital ichthyosis. \nSources: Expert list","entity_name":"SDR9C7","entity_type":"gene"},{"created":"2020-01-31T20:01:22.693295+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1813","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:00:30.589013+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1812","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 22279524; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T19:57:53.319612+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBGCP6 as ready","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T19:57:53.314881+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Originally reported in Mennonite families (founder effect) but three unrelated families reported subsequently.","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T19:57:53.276175+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp6 has been classified as Green List (High Evidence).","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T19:57:19.598954+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBGCP6 were changed from  to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T19:56:52.404176+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBGCP6 were set to ","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T19:56:23.107903+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T19:54:12.166907+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1812","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS as ready","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-01-31T19:54:12.155922+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1812","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas has been classified as Green List (High Evidence).","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-01-31T18:50:51.810929+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1812","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAS were changed from  to Pseudohypoparathyroidism Ia (103580); Pseudohypoparathyroidism Ib (603233); Pseudohypoparathyroidism Ic (612462); Pseudopseudohypoparathyroidism (612463)","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-01-31T18:47:08.553517+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1811","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-01-31T18:46:10.599980+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1080","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYT1L were changed from  to Mental retardation, autosomal dominant 39, MIM# 616521","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T18:44:55.406803+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1810","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYT1L as ready","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T18:44:55.396191+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1810","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myt1l has been classified as Green List (High Evidence).","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T18:44:41.572866+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1079","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYT1L were set to ","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T18:44:12.947592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T18:43:40.610895+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28859103; Phenotypes: Mental retardation, autosomal dominant 39, MIM# 616521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T18:42:42.595446+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1810","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYT1L were set to ","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T18:41:45.930978+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1809","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYT1L were changed from  to Mental retardation, autosomal dominant 39, MIM# 616521","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T18:40:48.591708+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1808","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T18:26:46.347218+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIPT1 as ready","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T18:26:46.336274+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipt1 has been classified as Green List (High Evidence).","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T18:26:43.004111+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIPT1 were changed from  to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T18:26:14.421310+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T18:25:41.442862+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299, Leigh-like presentation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T18:24:50.651785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIPT1 as ready","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T18:24:50.641270+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipt1 has been classified as Green List (High Evidence).","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T18:24:40.759056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIPT1 were changed from  to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T18:23:30.282964+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1076","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T18:22:43.981278+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1075","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARSA as ready","entity_name":"ARSA","entity_type":"gene"},{"created":"2020-01-31T18:22:43.970704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1075","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsa has been classified as Green List (High Evidence).","entity_name":"ARSA","entity_type":"gene"},{"created":"2020-01-31T18:22:31.710726+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1075","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARSA were changed from  to Metachromatic leukodystrophy, MIM#250100","entity_name":"ARSA","entity_type":"gene"},{"created":"2020-01-31T18:21:59.082966+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1074","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARSA","entity_type":"gene"},{"created":"2020-01-31T17:15:11.312374+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20226437, 27503413; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMP","entity_type":"gene"},{"created":"2020-01-31T17:11:10.461507+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1807","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRF2BPL as ready","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T17:11:10.449380+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1807","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf2bpl has been classified as Green List (High Evidence).","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T17:06:54.807118+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PHYH was added\ngene: PHYH was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHYH were set to 25604618; 9326940\nPhenotypes for gene: PHYH were set to Refsum disease MIM#266500\nReview for gene: PHYH was set to RED\nAdded comment: Ichthyosis is reported as a variable feature of Refsum disease. However, ichthyosis is only reported in a single case with biallelic PHYH variants. This finding is present in a minority of affected individuals, and is not the main diagnostic feature. \nSources: Expert list","entity_name":"PHYH","entity_type":"gene"},{"created":"2020-01-31T17:05:19.351220+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1807","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T17:04:55.663967+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1807","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IRF2BPL were changed from  to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T17:04:39.767522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1073","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTA1 as ready","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-01-31T17:04:39.755233+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1073","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta1 has been classified as Green List (High Evidence).","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-01-31T17:04:22.761274+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1806","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IRF2BPL were set to ","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T17:03:41.508840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1073","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTA1 were changed from Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3; ?Myopathy, scapulohumeroperoneal to Myopathy, actin, congenital, with cores, MIM#161800; Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Myopathy, congenital, with fiber-type disproportion 1, MIM#255310; Nemaline myopathy 3, MIM#161800; ?Myopathy, scapulohumeroperoneal","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-01-31T17:00:43.077880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1072","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTA1 were changed from  to Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3; ?Myopathy, scapulohumeroperoneal","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-01-31T17:00:22.861845+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1071","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTA1 were set to ","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-01-31T16:59:57.909744+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1070","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-01-31T16:48:59.403817+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PEX7 was added\ngene: PEX7 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX7 were set to 12522768\nPhenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B MIM#614879\nReview for gene: PEX7 was set to RED\nAdded comment: Ichthyosis is reported as a variable finding of Refsum disease, but it has not been reported in cases with PEX7 biallelic variants. \nSources: Expert list","entity_name":"PEX7","entity_type":"gene"},{"created":"2020-01-31T16:38:09.783117+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NSDHL was added\ngene: NSDHL was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: NSDHL were set to 10710235; 26459993\nPhenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Congenital hemidysplasia with ichthyosiform nevus and limb defects\nReview for gene: NSDHL was set to GREEN\nAdded comment: Ichthyosis is a feature of the syndrome. >3 unrelated families/cases have been reported. \nSources: Expert list","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-01-31T16:12:28.358075+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MBTPS2 was added\ngene: MBTPS2 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MBTPS2 were set to 19361614; 21426410\nPhenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205; follicular ichthyosis; atrichia of the scalp; photophobia\nReview for gene: MBTPS2 was set to GREEN\nAdded comment: Ichthyosis is part of the IFAP triad that is used to diagnose the syndrome. >3 unrelated families/males reported. \nSources: Expert list","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2020-01-31T16:03:48.247817+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KDSR was added\ngene: KDSR was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KDSR were set to 28774589\nPhenotypes for gene: KDSR were set to Harlequin ichthyosis\nReview for gene: KDSR was set to AMBER\nAdded comment: Two unrelated cases with harlequin ichthyosis and thrombocytopenia. These are the only reports associated with ichthyosis, more cases have been reported with palmoplantar keratoderma and erythrokeratoderma. \nSources: Expert list","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-31T15:48:54.655083+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: GJB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 2 MIM#617524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"GJB4","entity_type":"gene"},{"created":"2020-01-31T15:42:31.451490+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 1 MIM#133200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB3","entity_type":"gene"},{"created":"2020-01-31T15:24:55.905479+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GJB2 was added\ngene: GJB2 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GJB2 were set to 11912510\nPhenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness MIM#602540; Keratitis-ichthyosis-deafness syndrome MIM#148210\nReview for gene: GJB2 was set to GREEN\nAdded comment: Ichthyosis can be prominent feature of some of the conditions caused by this gene. >3 unrelated cases have been reported. Mostly de novo variants have been reported in association with ichthyosis. \nSources: Expert list","entity_name":"GJB2","entity_type":"gene"},{"created":"2020-01-31T15:09:25.720359+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ERCC2 was added\ngene: ERCC2 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC2 were set to 9651581; 30580289; 27862069; 25002996; 20944642\nPhenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive MIM#601675; photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS)\nReview for gene: ERCC2 was set to GREEN\nAdded comment: Ichthyosis can be a feature of the condition, and has been reported in >3 unrelated families. Mouse model recapitulates phenotype including skin abnormalities. Trichothiodystrophy 1has been characterised as a syndromic ichthyosis \nSources: Expert list","entity_name":"ERCC2","entity_type":"gene"},{"created":"2020-01-31T15:04:44.704792+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1805","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28970574, PMID: 22258533, PMID 31488895, PMID 31512412; Phenotypes: 1. Mental retardation, autosomal dominant 9 614255 AD, 2. Neuropathy, hereditary sensory, type IIC 614213 AR, 3. Spastic paraplegia 30, autosomal recessive 610357 AR, 4. Hereditary spastic paraplegia, AD (PMID 31488895), 5. Rett syndrome (typical) AD (PMID 31512412); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-01-31T14:59:11.346254+11:00","panel_name":"Long QT Syndrome","panel_id":131,"panel_version":"0.1","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301308; Phenotypes: 1. Atrial fibrillation, familial, 3 607554 AD, 2. Jervell and Lange-Nielsen syndrome 220400 AR, 3. Long QT syndrome 1 192500 AD, 4. Short QT syndrome 2 609621 AD, 5. {Long QT syndrome 1, acquired, susceptibility to} 192500 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2020-01-31T14:59:04.074020+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.60","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29593473, PMID: 16571644; Phenotypes: 1. Cavernous malformations of CNS and retina, 116860, AD, 2. Cerebral cavernous malformations-1, 116860, AD, 3. Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRIT1","entity_type":"gene"},{"created":"2020-01-31T14:51:17.056293+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1805","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:12525535; Phenotypes: 1. Mental retardation, X-linked 63 300387 XLD; 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":"ACSL4","entity_type":"gene"},{"created":"2020-01-31T14:42:54.074938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1069","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21998596; Phenotypes: Jawad syndrome, Seckel syndrome 2, Pancreatic carcinoma, somatic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-01-31T14:39:13.292557+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1069","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"NIPBL","entity_type":"gene"},{"created":"2020-01-31T14:34:57.557050+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1805","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-01-31T14:29:19.377220+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1069","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30797980, 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type, Say-Meyer syndrome; 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":"HUWE1","entity_type":"gene"},{"created":"2020-01-31T14:24:32.950817+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1069","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30089473; Phenotypes: ?FG syndrome 2, XL, Cardiac valvular dysplasia, X-linked, Congenital short bowel syndrome, Frontometaphyseal dysplasia 1, Heterotopia, periventricular, 1, Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome, Otopalatodigital syndrome, type I, Otopalatodigital syndrome, type II, Terminal osseous dysplasia; 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":"FLNA","entity_type":"gene"},{"created":"2020-01-31T14:19:18.109261+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1069","user_name":"Kristin Rigbye","item_type":"entity","text":"gene: LIPE was added\ngene: LIPE was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIPE were set to 27862896; 25475467; 24848981\nPhenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980\nReview for gene: LIPE was set to GREEN\ngene: LIPE was marked as current diagnostic\nAdded comment: LIPE is confirmed to be associated with partial familial lipodystrophy in OMIM.\r\nThere are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene. \nSources: Expert list","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T14:15:53.755720+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1805","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30055037; Phenotypes: 1) Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 AR 2), Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 AR, 3 LAMA2-related muscular dystrophy (suggested by PMID: 30055037); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-01-31T14:01:06.191718+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1069","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR35","entity_type":"gene"},{"created":"2020-01-31T13:56:16.966203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1069","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAH11","entity_type":"gene"},{"created":"2020-01-31T13:11:35.068794+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-01-31T13:10:17.531644+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T13:10:11.689865+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: ELOVL1: Added comment: Ichthyosis is a prominent feature of the condition. 2 unrelated cases with an identical heterozygous de novo ELOVL1 mutation (c.494C>T, NM_001256399; p.S165F) not deriving from a founder allele. Enzyme activity abrogated in patient cells. Elovl1 -/- mice died shortly after birth due to epidermal barrier defects. Reduced very long chain fatty acids were reduced in tissues.; Changed publications: 30487246, 29496980, 23689133","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T12:59:46.215621+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1069","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF3 were changed from Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706","entity_name":"FGF3","entity_type":"gene"},{"created":"2020-01-31T12:59:16.123427+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1805","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T12:59:10.592433+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF3 as ready","entity_name":"FGF3","entity_type":"gene"},{"created":"2020-01-31T12:59:10.585293+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf3 has been classified as Green List (High Evidence).","entity_name":"FGF3","entity_type":"gene"},{"created":"2020-01-31T12:58:49.377655+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30487246, 29496980; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-01-31T12:58:38.828592+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1804","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T12:57:34.140721+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF8 as ready","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:57:34.135010+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf8 has been classified as Green List (High Evidence).","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:57:28.515500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRF2BPL as ready","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T12:57:28.509930+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf2bpl has been classified as Green List (High Evidence).","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T12:57:22.146277+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF3 were changed from  to Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706","entity_name":"FGF3","entity_type":"gene"},{"created":"2020-01-31T12:57:02.871079+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1067","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FGF3","entity_type":"gene"},{"created":"2020-01-31T12:55:57.381397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1066","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IRF2BPL were changed from  to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T12:55:56.986523+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHCR7 as ready","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-31T12:55:56.979782+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Green List (High Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-31T12:55:21.690279+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1065","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IRF2BPL were set to ","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T12:55:02.926666+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1064","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-01-31T12:54:46.342729+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-01-31T12:54:40.218119+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHCR7 were changed from  to Smith-Lemli-Opitz syndrome, MIM#270400","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-31T12:54:06.258150+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-31T12:53:06.825639+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LONP1 as ready","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:53:06.817911+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lonp1 has been classified as Green List (High Evidence).","entity_name":"LONP1","entity_type":"gene"}]}