{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1748","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1746","results":[{"created":"2020-07-03T13:10:35.798579+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLRT3 were changed from  to Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:10:02.076379+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLRT3 were set to ","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:09:32.771589+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FLRT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:09:04.386426+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLRT3 as Red List (low evidence)","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:09:04.370091+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flrt3 has been classified as Red List (Low Evidence).","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:08:35.054952+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLRT3: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 31200363; Phenotypes: Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:07:49.198547+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3215","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLRT3 as ready","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:07:49.189442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flrt3 has been classified as Red List (Low Evidence).","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:07:41.290532+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLRT3 were changed from  to Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:07:16.997676+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3214","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLRT3 were set to ","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:06:58.588308+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3213","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FLRT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:06:37.477164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3212","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLRT3 as Red List (low evidence)","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:06:37.467789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flrt3 has been classified as Red List (Low Evidence).","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:06:17.873669+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3211","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLRT3: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 31200363; Phenotypes: Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:04:52.644362+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLRT3 as ready","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:04:52.638186+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Oligogenic inheritance postulated. I also note one of the variants, Gln69Lys is present in 7 individuals in gnomad.","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:04:52.592748+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flrt3 has been classified as Red List (Low Evidence).","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:03:15.140875+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLRT3 as ready","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:03:15.126168+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flrt3 has been classified as Red List (Low Evidence).","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:03:12.704572+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLRT3 were changed from  to Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:02:42.594582+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLRT3 were set to ","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:02:12.348900+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLRT3 as Red List (low evidence)","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T13:02:12.339233+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flrt3 has been classified as Red List (Low Evidence).","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T11:57:32.780713+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.353","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29741433; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DSPP","entity_type":"gene"},{"created":"2020-07-03T11:55:36.143357+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.19","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31827252, 31486067, 31449985, 27650058, 21464306; Phenotypes: Perrault syndrome 2 (MIM# 614926); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-07-03T09:56:16.018261+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.18","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32134721, 19567835, 19535795; Phenotypes: ?Hypogonadotropic hypogonadism 12 with or without anosmia (MIM# 614841); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNRH1","entity_type":"gene"},{"created":"2020-07-03T09:34:45.564859+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.31","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: FLRT3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23643382, 31200363; Phenotypes: Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271); Mode of inheritance: Unknown","entity_name":"FLRT3","entity_type":"gene"},{"created":"2020-07-03T08:31:30.986180+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC32 as ready","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:31:30.973305+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc32 has been classified as Green List (High Evidence).","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:31:20.633524+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC32 as Green List (high evidence)","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:31:20.624111+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc32 has been classified as Green List (High Evidence).","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:30:19.205325+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC32 was added\ngene: CCDC32 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC32 were set to 32307552\nPhenotypes for gene: CCDC32 were set to Craniofacial, cardiac, laterality and neurodevelopmental anomalies\nReview for gene: CCDC32 was set to GREEN\nAdded comment: Two unrelated consanguineous families with probands with homozygous frameshift variants reported. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Functional studies in zebrafish show that ccdc32 depletion impairs cilia formation and shows a role for ccdc32 in craniofacial, brain and left/right axis development. \nSources: Literature","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:27:03.678750+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3211","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC32 as ready","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:27:03.674175+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3211","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Three affected individuals from two unrelated families, supportive animal model and other functional data consistent with this being a ciliopathy.","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:27:03.632068+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc32 has been classified as Green List (High Evidence).","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:26:03.410329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3211","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC32 as Green List (high evidence)","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:26:03.396269+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc32 has been classified as Green List (High Evidence).","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-03T08:22:18.182689+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2727","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAPZA2 as ready","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-03T08:22:18.172658+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2727","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capza2 has been classified as Amber List (Moderate Evidence).","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-03T08:22:11.611904+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2727","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAPZA2 as Amber List (moderate evidence)","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-03T08:22:11.602347+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2727","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capza2 has been classified as Amber List (Moderate Evidence).","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-03T08:21:25.109485+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2726","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAPZA2 was added\ngene: CAPZA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CAPZA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAPZA2 were set to 32338762\nPhenotypes for gene: CAPZA2 were set to Intellectual disability\nReview for gene: CAPZA2 was set to AMBER\nAdded comment: PMID: 32338762 - Huang et al 2020 - report 2 unrelated families (Chinese and European) in which a de novo heterozygous variant has been identified in CAPZA2 in paediatric probands that present with global motor development delay, speech delay, intellectual disability, hypotonia. One proband had seizures at 7 months but these were controlled with medication and did not repeat. The other proband at age one had an atypical febrile seizure that was controlled without medication. Functional studies in Drosophila suggest that these variants are mild loss of function mutations but that they can act as dominant negative variants in actin polymerization in bristles. \nSources: Literature","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-03T08:19:38.810896+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAPZA2 as ready","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-03T08:19:38.800668+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capza2 has been classified as Amber List (Moderate Evidence).","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-03T08:19:25.750664+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3210","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAPZA2 as Amber List (moderate evidence)","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-03T08:19:25.720761+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capza2 has been classified as Amber List (Moderate Evidence).","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-03T08:15:31.302935+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP3R1 as ready","entity_name":"PPP3R1","entity_type":"gene"},{"created":"2020-07-03T08:15:31.298015+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3209","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Currently just a locus; note multiple mouse models implicating a role for this gene in cardiovascular, renal and brain development.","entity_name":"PPP3R1","entity_type":"gene"},{"created":"2020-07-03T08:15:31.262629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp3r1 has been classified as Red List (Low Evidence).","entity_name":"PPP3R1","entity_type":"gene"},{"created":"2020-07-03T08:13:11.167748+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3209","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP3R1 as Red List (low evidence)","entity_name":"PPP3R1","entity_type":"gene"},{"created":"2020-07-03T08:13:11.155607+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp3r1 has been classified as Red List (Low Evidence).","entity_name":"PPP3R1","entity_type":"gene"},{"created":"2020-07-03T08:11:35.690847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEK as ready","entity_name":"PLEK","entity_type":"gene"},{"created":"2020-07-03T08:11:35.681118+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plek has been classified as Red List (Low Evidence).","entity_name":"PLEK","entity_type":"gene"},{"created":"2020-07-03T08:11:25.599213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLEK as Red List (low evidence)","entity_name":"PLEK","entity_type":"gene"},{"created":"2020-07-03T08:11:25.588128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plek has been classified as Red List (Low Evidence).","entity_name":"PLEK","entity_type":"gene"},{"created":"2020-07-03T08:10:10.178000+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNRIP1 as ready","entity_name":"CNRIP1","entity_type":"gene"},{"created":"2020-07-03T08:10:10.166209+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnrip1 has been classified as Red List (Low Evidence).","entity_name":"CNRIP1","entity_type":"gene"},{"created":"2020-07-03T08:10:00.223995+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNRIP1 was added\ngene: CNRIP1 was added to Deafness. Sources: Literature\nMode of inheritance for gene: CNRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CNRIP1 were set to 32337552; 19159392\nPhenotypes for gene: CNRIP1 were set to Deafness, autosomal dominant 58\tMIM#615654\nReview for gene: CNRIP1 was set to RED\nAdded comment: PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392). The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members. \nSources: Literature","entity_name":"CNRIP1","entity_type":"gene"},{"created":"2020-07-03T08:07:43.775949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNRIP1 as ready","entity_name":"CNRIP1","entity_type":"gene"},{"created":"2020-07-03T08:07:43.770716+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3207","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Currently just a locus, insufficient evidence for gene-disease association.","entity_name":"CNRIP1","entity_type":"gene"},{"created":"2020-07-03T08:07:43.731745+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnrip1 has been classified as Red List (Low Evidence).","entity_name":"CNRIP1","entity_type":"gene"},{"created":"2020-07-03T08:07:01.288842+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3207","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNRIP1 as Red List (low evidence)","entity_name":"CNRIP1","entity_type":"gene"},{"created":"2020-07-03T08:07:01.274454+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnrip1 has been classified as Red List (Low Evidence).","entity_name":"CNRIP1","entity_type":"gene"},{"created":"2020-07-03T08:05:38.446931+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAD21 as ready","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-07-03T08:05:38.437825+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad21 has been classified as Green List (High Evidence).","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-07-03T08:05:29.199613+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3206","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAD21 were changed from  to ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701; Holoprocencephaly","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-07-03T08:05:08.630935+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3205","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAD21 were set to 31334757; 25575569; 32193685","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-07-03T08:04:45.245757+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3204","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAD21 were set to ","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-07-03T08:04:22.504041+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3203","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAD21 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-07-03T00:13:24.231551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3202","user_name":"Eleanor Williams","item_type":"entity","text":"gene: CAPZA2 was added\ngene: CAPZA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CAPZA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CAPZA2 were set to 32338762\nPhenotypes for gene: CAPZA2 were set to intellectual disability\nReview for gene: CAPZA2 was set to AMBER\nAdded comment: PMID: 32338762 - Huang et al 2020 - report 2 unrelated families (Chinese and European) in which a de novo heterozygous variant has been identified in CAPZA2 in paediatric probands that present with global motor development delay, speech delay, intellectual disability, hypotonia. One proband had seizures at 7 months but these were controlled with medication and did not repeat. The other proband at age one had an atypical febrile seizure that was controlled without medication. Functional studies in Drosophila suggest that these variants are mild loss of function mutations but that they can act as dominant negative variants in actin polymerization in bristles. \nSources: Literature","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2020-07-02T23:35:12.568910+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3202","user_name":"Eleanor Williams","item_type":"entity","text":"gene: PPP3R1 was added\ngene: PPP3R1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPP3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP3R1 were set to 32337552; 19159392\nPhenotypes for gene: PPP3R1 were set to Deafness, autosomal dominant 58\t MIM#615654\nReview for gene: PPP3R1 was set to RED\nAdded comment: PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392).  The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as  four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members. \nSources: Literature","entity_name":"PPP3R1","entity_type":"gene"},{"created":"2020-07-02T23:33:56.265700+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3202","user_name":"Eleanor Williams","item_type":"entity","text":"gene: PLEK was added\ngene: PLEK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLEK were set to 32337552; 19159392\nPhenotypes for gene: PLEK were set to Deafness, autosomal dominant 58\t MIM#615654\nReview for gene: PLEK was set to RED\nAdded comment: PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392).  The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as  four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members. \nSources: Literature","entity_name":"PLEK","entity_type":"gene"},{"created":"2020-07-02T23:32:33.872512+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3202","user_name":"Eleanor Williams","item_type":"entity","text":"gene: CNRIP1 was added\ngene: CNRIP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CNRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CNRIP1 were set to 32337552; 19159392\nPhenotypes for gene: CNRIP1 were set to Deafness, autosomal dominant 58\t MIM#615654\nReview for gene: CNRIP1 was set to RED\nAdded comment: PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392).  The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as  four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members. \nSources: Literature","entity_name":"CNRIP1","entity_type":"gene"},{"created":"2020-07-02T23:00:19.470455+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3202","user_name":"Sarah Leigh","item_type":"entity","text":"reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 31334757, 31704779; Phenotypes: Cornelia de Lange syndrome 4 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-07-02T20:53:46.593386+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FREM1 as ready","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-07-02T20:53:46.579450+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frem1 has been classified as Red List (Low Evidence).","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-07-02T20:53:43.232942+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FREM1 were changed from  to Trigonocephaly 2, MIM# 614485","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-07-02T20:53:15.217180+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FREM1 were set to ","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-07-02T20:52:47.779666+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FREM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-07-02T20:52:20.584116+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FREM1 as Red List (low evidence)","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-07-02T20:52:20.570484+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frem1 has been classified as Red List (Low Evidence).","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-07-02T20:51:49.969530+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: FREM1.","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-07-02T20:51:40.249895+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FREM1: Rating: RED; Mode of pathogenicity: None; Publications: 21931569,; Phenotypes: Trigonocephaly 2, MIM# 614485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-07-02T20:46:25.881731+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM20C as ready","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-07-02T20:46:25.872562+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Amber List (Moderate Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-07-02T20:46:20.498120+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAM20C as Amber List (moderate evidence)","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-07-02T20:46:20.484245+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Amber List (Moderate Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-07-02T20:45:49.082193+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM20C was added\ngene: FAM20C was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20C were set to 19250384\nPhenotypes for gene: FAM20C were set to Raine syndrome, MIM#\t259775\nReview for gene: FAM20C was set to AMBER\nAdded comment: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly. \nSources: Expert list","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-07-02T20:41:40.138132+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTSK as ready","entity_name":"CTSK","entity_type":"gene"},{"created":"2020-07-02T20:41:40.127842+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsk has been classified as Green List (High Evidence).","entity_name":"CTSK","entity_type":"gene"},{"created":"2020-07-02T20:41:36.347071+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTSK as Green List (high evidence)","entity_name":"CTSK","entity_type":"gene"},{"created":"2020-07-02T20:41:36.335056+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsk has been classified as Green List (High Evidence).","entity_name":"CTSK","entity_type":"gene"},{"created":"2020-07-02T20:41:08.172755+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTSK was added\ngene: CTSK was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSK were set to 21968522; 23175007\nPhenotypes for gene: CTSK were set to Pycnodysostosis, MIM#265800\nReview for gene: CTSK was set to GREEN\nAdded comment: Craniosynostosis described in some individuals. \nSources: Expert list","entity_name":"CTSK","entity_type":"gene"},{"created":"2020-07-02T20:34:59.871376+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3202","user_name":"Eleanor Williams","item_type":"entity","text":"gene: CCDC32 was added\ngene: CCDC32 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC32 were set to 32307552\nPhenotypes for gene: CCDC32 were set to craniofacial, cardiac and neurodevelopmental anomalies\nReview for gene: CCDC32 was set to AMBER\nAdded comment: PMID: 32307552 - Harel et al 2020 - reports 2 unrelated consanguineous families with probands with homozygous frameshift variants in CCDC32.  Parents are heterozygous. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.  Functional studies in zebrafish show that ccdc32 depletion impairs cilia formation and shows a role for ccdc32 in craniofacial, brain and left/right axis development. \nSources: Literature","entity_name":"CCDC32","entity_type":"gene"},{"created":"2020-07-02T20:34:54.023035+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL1 as ready","entity_name":"ASXL1","entity_type":"gene"},{"created":"2020-07-02T20:34:54.013870+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl1 has been classified as Green List (High Evidence).","entity_name":"ASXL1","entity_type":"gene"},{"created":"2020-07-02T20:34:38.520267+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASXL1 as Green List (high evidence)","entity_name":"ASXL1","entity_type":"gene"},{"created":"2020-07-02T20:34:38.506906+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl1 has been classified as Green List (High Evidence).","entity_name":"ASXL1","entity_type":"gene"},{"created":"2020-07-02T20:34:09.330014+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASXL1 was added\ngene: ASXL1 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome,MIM# 605039\nReview for gene: ASXL1 was set to GREEN\nAdded comment: Trigonocephaly in 90%, metopic synostosis frequent. \nSources: Expert list","entity_name":"ASXL1","entity_type":"gene"},{"created":"2020-07-02T20:32:07.889521+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARSB as ready","entity_name":"ARSB","entity_type":"gene"}]}