{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1439","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1437","results":[{"created":"2021-01-20T11:44:33.683651+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: STS.","entity_name":"STS","entity_type":"gene"},{"created":"2021-01-20T11:44:24.791949+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, X-linked, MIM# 308100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STS","entity_type":"gene"},{"created":"2021-01-20T10:43:07.894251+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TMEM251 as ready","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T10:43:07.881338+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem251 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T10:43:04.284341+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6096","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TMEM251 as ready","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T10:43:04.273581+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6096","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem251 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T10:42:28.626908+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TMEM251 as Amber List (moderate evidence)","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T10:42:28.619064+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem251 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T10:40:39.418772+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM251 was added\ngene: TMEM251 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM251 were set to 33252156\nPhenotypes for gene: TMEM251 were set to Dysostosis multiplex‐like skeletal dysplasia; severe short stature\nReview for gene: TMEM251 was set to AMBER\nAdded comment: Two unrelated consanguineous families with homozygous variants (c.133C>T; p.Arg45Trp and c.215dupA; p.Tyr72Ter), with co-segregation data in one family. Preliminary in vitro functional assays conducted - Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes. \nSources: Literature","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T10:38:00.824158+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6096","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TMEM251 as Amber List (moderate evidence)","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T10:38:00.816546+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6096","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem251 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T10:37:12.206468+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6095","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM251 was added\ngene: TMEM251 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM251 were set to 33252156\nPhenotypes for gene: TMEM251 were set to Dysostosis multiplex‐like skeletal dysplasia; severe short stature\nReview for gene: TMEM251 was set to AMBER\nAdded comment: Two unrelated consanguineous families with homozygous variants (c.133C>T; p.Arg45Trp and c.215dupA; p.Tyr72Ter), with co-segregation data in one family. Preliminary in vitro functional assays conducted - Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes. \nSources: Literature","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-01-20T07:25:22.871308+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6094","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LOR as ready","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:25:22.864140+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6094","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lor has been classified as Green List (High Evidence).","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:25:14.692005+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6094","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LOR were changed from  to Vohwinkel syndrome with ichthyosis, MIM# 604117","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:24:53.312156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6093","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LOR were set to ","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:24:33.856755+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6092","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:24:11.051810+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6091","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673107, 9326398, 9326323, 25234742, 25142840; Phenotypes: Vohwinkel syndrome with ichthyosis, MIM# 604117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:22:48.910626+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LOR as ready","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:22:48.898457+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lor has been classified as Green List (High Evidence).","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:22:41.958499+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LOR were changed from  to Vohwinkel syndrome with ichthyosis, MIM# 604117","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:22:11.614195+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LOR were set to ","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:21:36.619576+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:21:05.508001+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673107, 9326398, 9326323, 25234742, 25142840; Phenotypes: Vohwinkel syndrome with ichthyosis, MIM# 604117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LOR","entity_type":"gene"},{"created":"2021-01-20T07:18:12.367305+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT10 as ready","entity_name":"KRT10","entity_type":"gene"},{"created":"2021-01-20T07:18:12.359597+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt10 has been classified as Green List (High Evidence).","entity_name":"KRT10","entity_type":"gene"},{"created":"2021-01-20T07:18:08.385085+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT10 were changed from  to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis with confetti, MIM# 609165","entity_name":"KRT10","entity_type":"gene"},{"created":"2021-01-20T07:17:38.667989+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT10","entity_type":"gene"},{"created":"2021-01-20T07:17:09.093878+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis with confetti, MIM# 609165; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT10","entity_type":"gene"},{"created":"2021-01-20T07:16:07.379052+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT1 as ready","entity_name":"KRT1","entity_type":"gene"},{"created":"2021-01-20T07:16:07.368201+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt1 has been classified as Green List (High Evidence).","entity_name":"KRT1","entity_type":"gene"},{"created":"2021-01-20T07:16:03.543086+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT1 were changed from  to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590","entity_name":"KRT1","entity_type":"gene"},{"created":"2021-01-20T07:15:28.866751+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT1","entity_type":"gene"},{"created":"2021-01-20T07:14:59.775378+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT1","entity_type":"gene"},{"created":"2021-01-19T21:55:13.667351+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6091","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP4F22 as ready","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:55:13.657290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6091","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp4f22 has been classified as Green List (High Evidence).","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:55:03.706549+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6091","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP4F22 were changed from  to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:54:42.228772+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6090","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP4F22 were set to ","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:54:05.478560+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6089","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYP4F22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:53:46.100946+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6088","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: 16436457; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:52:47.273121+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CYP4F22: Changed phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:52:36.103310+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP4F22 as ready","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:52:36.091464+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp4f22 has been classified as Green List (High Evidence).","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:52:29.556994+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP4F22 were changed from  to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:51:57.050376+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP4F22 were set to ","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:51:19.436017+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYP4F22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:50:50.695636+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: 16436457; Phenotypes: chthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2021-01-19T21:47:00.398939+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6088","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CERS3 as ready","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:47:00.388266+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6088","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cers3 has been classified as Green List (High Evidence).","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:46:51.753068+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6088","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CERS3 were changed from  to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:46:29.478313+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6087","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CERS3 were set to ","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:46:06.542625+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6086","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CERS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:45:46.610972+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6085","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:44:50.311867+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CERS3 as ready","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:44:50.298030+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cers3 has been classified as Green List (High Evidence).","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:44:47.596207+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CERS3 were changed from  to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:42:01.439615+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CERS3 were set to ","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:41:32.525890+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CERS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:41:02.951024+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-01-19T21:37:49.017827+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6085","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:37:39.382014+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6085","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALOX12B as ready","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:37:39.371263+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6085","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alox12b has been classified as Green List (High Evidence).","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:37:30.884695+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6085","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALOX12B were changed from  to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:37:07.297811+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6084","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALOX12B were set to ","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:36:42.762790+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6083","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALOX12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:36:18.695924+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6082","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ALOX12B: Well established gene-disease association.","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:36:17.644917+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6082","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:35:13.508008+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALOX12B as ready","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:35:13.497190+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alox12b has been classified as Green List (High Evidence).","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:35:10.900817+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALOX12B were changed from  to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:34:48.347313+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALOX12B were set to ","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:34:17.372698+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALOX12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T21:33:47.886634+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004]; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-01-19T15:08:04.374475+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.15","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":"2021-01-19T15:00:58.925677+11:00","panel_name":"Renal Glomerular Disease_SuperPanel","panel_id":262,"panel_version":"0.217","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2021-01-19T14:42:05.366856+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPR179 as ready","entity_name":"GPR179","entity_type":"gene"},{"created":"2021-01-19T14:42:05.356211+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpr179 has been classified as Green List (High Evidence).","entity_name":"GPR179","entity_type":"gene"},{"created":"2021-01-19T14:42:02.503131+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPR179 were set to ","entity_name":"GPR179","entity_type":"gene"},{"created":"2021-01-19T12:06:31.184391+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.7","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPR179","entity_type":"gene"},{"created":"2021-01-19T10:49:34.587245+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"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":"2021-01-19T10:48:15.554010+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFNB1 as ready","entity_name":"EFNB1","entity_type":"gene"},{"created":"2021-01-19T10:48:15.543608+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efnb1 has been classified as Green List (High Evidence).","entity_name":"EFNB1","entity_type":"gene"},{"created":"2021-01-19T10:48:06.652970+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EFNB1 as Green List (high evidence)","entity_name":"EFNB1","entity_type":"gene"},{"created":"2021-01-19T10:48:06.645511+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efnb1 has been classified as Green List (High Evidence).","entity_name":"EFNB1","entity_type":"gene"},{"created":"2021-01-19T10:47:39.459354+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EFNB1 was added\ngene: EFNB1 was added to Frontonasal dysplasia. Sources: Expert list\nMode of inheritance for gene: EFNB1 was set to Other\nPublications for gene: EFNB1 were set to 15166289\nPhenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, MIM#\t304110\nReview for gene: EFNB1 was set to GREEN\nAdded comment: XLD. More than 20 families reported.\r\n\r\nCraniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism. \nSources: Expert list","entity_name":"EFNB1","entity_type":"gene"},{"created":"2021-01-19T10:44:23.081269+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPECC1L as ready","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2021-01-19T10:44:23.071871+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: specc1l has been classified as Green List (High Evidence).","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2021-01-19T10:44:02.733948+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPECC1L were changed from  to Opitz GBBB syndrome, type II, MIM# 145410; Hypertelorism, Teebi type, MIM# 145420","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2021-01-19T10:43:10.529854+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2021-01-19T10:42:41.023228+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Opitz GBBB syndrome, type II, MIM# 145410, Hypertelorism, Teebi type, MIM# 145420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2021-01-19T10:41:42.498164+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MID1 as ready","entity_name":"MID1","entity_type":"gene"},{"created":"2021-01-19T10:41:42.490114+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mid1 has been classified as Green List (High Evidence).","entity_name":"MID1","entity_type":"gene"},{"created":"2021-01-19T10:41:39.679617+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MID1 were changed from  to Opitz GBBB syndrome, type I, MIM# 300000","entity_name":"MID1","entity_type":"gene"},{"created":"2021-01-19T10:41:10.704670+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MID1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MID1","entity_type":"gene"},{"created":"2021-01-19T10:40:41.165826+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Opitz GBBB syndrome, type I, MIM# 300000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MID1","entity_type":"gene"},{"created":"2021-01-19T10:39:39.474969+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALX4 as ready","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-01-19T10:39:39.465924+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alx4 has been classified as Green List (High Evidence).","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-01-19T10:39:35.644417+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALX4 were changed from  to Frontonasal dysplasia 2, MIM# 613451","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-01-19T10:39:08.484645+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALX4 were set to ","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-01-19T10:38:41.061750+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALX4","entity_type":"gene"}]}