{"count":220504,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1555","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1553","results":[{"created":"2020-10-05T15:42:10.212550+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4784","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNPC3 was added\ngene: RNPC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNPC3 were set to 29866761; 32462814\nPhenotypes for gene: RNPC3 were set to Growth hormone deficiency\nReview for gene: RNPC3 was set to AMBER\nAdded comment: Two families reported. PMID 29866761: isolated growth deficiency and pituitary hypoplasia. PMID 32462814: growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. Full spectrum of phenotype unclear at present. \nSources: Literature","entity_name":"RNPC3","entity_type":"gene"},{"created":"2020-10-05T15:41:15.775296+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4783","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: Missense variant identified and segregated with adulthood-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the induced hair cell apoptosis. \nSources: Literature; to: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the induced hair cell apoptosis. \r\nSources: Literature","entity_name":"THOC1","entity_type":"gene"},{"created":"2020-10-05T15:40:31.334939+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4783","user_name":"Teresa Zhao","item_type":"entity","text":"gene: PRICKLE3 was added\ngene: PRICKLE3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRICKLE3 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: PRICKLE3 were set to 32516135\nPhenotypes for gene: PRICKLE3 were set to Leber’s hereditary optic neuropathy MIM#535000\nReview for gene: PRICKLE3 was set to AMBER\nAdded comment: Reported as X-linked LHON modifier (c.157C>T, p.Arg53Trp) in PRICKLE3  in 3 Chinese families. All affected individuals carried both ND4 11778G>A and p.Arg53Trp mutations, while subjects bearing only a single mutation exhibited normal vision.\r\n\r\nDefective assembly, stability, and function of ATP synthase observed using Lymphoblastoid cell lines from one of the families. \r\n\r\nThis finding indicated that the p.Arg53Trp mutation acted in synergy with the m.11778G>A mutation and deteriorated mitochondrial dysfunctions necessary for the expression of LHON.\r\n\r\nPrickle3-deficient mice exhibited pronounced ATPase deficiencies. \nSources: Literature","entity_name":"PRICKLE3","entity_type":"gene"},{"created":"2020-10-05T15:40:00.968400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4783","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: NUAK2 as ready","entity_name":"NUAK2","entity_type":"gene"},{"created":"2020-10-05T15:40:00.958178+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4783","user_name":"Seb Lunke","item_type":"entity","text":"Gene: nuak2 has been classified as Red List (Low Evidence).","entity_name":"NUAK2","entity_type":"gene"},{"created":"2020-10-05T15:37:59.504473+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4783","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Four unrelated families with individuals affected by sporadic or dominant Distal hereditary motor neuropathies (HMNs) or axonal Charcot-Marie-Tooth neuropathy (CMT2). 3 missense variants (1 de novo) and 1 nonsense variant (de novo). Authors observed marked increase in Golgi fragmentation in primary fibroblasts derived from all affected individuals. \nSources: Literature; to: Four unrelated families with individuals affected by sporadic or dominant Distal hereditary motor neuropathies (HMNs) or axonal Charcot-Marie-Tooth neuropathy (CMT2). 3 missense variants (1 de novo) and 1 nonsense variant (de novo). \r\n\r\nAge of onset varied from childhood (nonsense variant) to 50s. Authors observed marked increase in Golgi fragmentation in primary fibroblasts derived from all affected individuals. \r\nSources: Literature","entity_name":"GBF1","entity_type":"gene"},{"created":"2020-10-05T15:37:21.527246+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4783","user_name":"Seb Lunke","item_type":"entity","text":"gene: NUAK2 was added\ngene: NUAK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NUAK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NUAK2 were set to 32845958\nPhenotypes for gene: NUAK2 were set to ANENCEPHALY (OMIM#206500)\nReview for gene: NUAK2 was set to AMBER\nAdded comment: Novel gene described in single consanguineous family with three FDIU and extensive anencephaly. Hom inframe del affecting functional kinase domain, parents confirmed carriers. Good functional data showing loss of enzyme function and mouse model with 40% anencephaly after knock-out. \nSources: Literature","entity_name":"NUAK2","entity_type":"gene"},{"created":"2020-10-05T15:36:40.305261+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4782","user_name":"Melanie Marty","item_type":"entity","text":"gene: THOC1 was added\ngene: THOC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: THOC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THOC1 were set to 32776944\nPhenotypes for gene: THOC1 were set to Nonsyndromic hearing loss\nReview for gene: THOC1 was set to AMBER\nAdded comment: Missense variant identified and segregated with adulthood-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the induced hair cell apoptosis. \nSources: Literature","entity_name":"THOC1","entity_type":"gene"},{"created":"2020-10-05T15:35:32.526298+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MBTPS1 as ready","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:35:32.514690+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbtps1 has been classified as Green List (High Evidence).","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:35:28.609025+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MBTPS1 as Green List (high evidence)","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:35:28.601091+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbtps1 has been classified as Green List (High Evidence).","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:34:40.781911+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MBTPS1 was added\ngene: MBTPS1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBTPS1 were set to 32857899; 32420688; 30046013\nPhenotypes for gene: MBTPS1 were set to Skeletal dysplasia\nReview for gene: MBTPS1 was set to GREEN\nAdded comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature. \nSources: Literature","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:33:19.387081+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4782","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MBTPS1 as ready","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:33:19.371125+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4782","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbtps1 has been classified as Green List (High Evidence).","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:33:10.629333+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4782","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MBTPS1 as Green List (high evidence)","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:33:10.618901+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4782","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbtps1 has been classified as Green List (High Evidence).","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:32:52.343008+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4781","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MBTPS1 was added\ngene: MBTPS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBTPS1 were set to 32857899; 32420688; 30046013\nPhenotypes for gene: MBTPS1 were set to Skeletal dysplasia\nReview for gene: MBTPS1 was set to GREEN\nAdded comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature. \nSources: Literature","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2020-10-05T15:32:00.164193+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4780","user_name":"Paul De Fazio","item_type":"entity","text":"gene: GBF1 was added\ngene: GBF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GBF1 were set to 32937143\nPhenotypes for gene: GBF1 were set to Axonal Neuropathy\nReview for gene: GBF1 was set to GREEN\ngene: GBF1 was marked as current diagnostic\nAdded comment: Four unrelated families with individuals affected by sporadic or dominant Distal hereditary motor neuropathies (HMNs) or axonal Charcot-Marie-Tooth neuropathy (CMT2). 3 missense variants (1 de novo) and 1 nonsense variant (de novo). Authors observed marked increase in Golgi fragmentation in primary fibroblasts derived from all affected individuals. \nSources: Literature","entity_name":"GBF1","entity_type":"gene"},{"created":"2020-10-05T15:26:21.234895+11:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.101","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HADH","entity_type":"gene"},{"created":"2020-10-05T15:25:30.563468+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX5 as ready","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-10-05T15:25:30.554946+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx5 has been classified as Green List (High Evidence).","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-10-05T15:24:58.188243+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBX5 as Green List (high evidence)","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-10-05T15:24:58.174374+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx5 has been classified as Green List (High Evidence).","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-10-05T15:24:39.334161+11:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.101","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoglycaemia, hyperinsulinaemic; Mode of inheritance: None","entity_name":"HNF4A","entity_type":"gene"},{"created":"2020-10-05T15:24:30.683350+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBX5 was added\ngene: TBX5 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX5 were set to 32449309; 32236096; 25963046; 25725155\nPhenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM#\t142900; Dilated cardiomyopathy\nReview for gene: TBX5 was set to GREEN\nAdded comment: 8 individuals from 4 unrelated families reported in PMID 32449309, relatively mild skeletal manifestations of HOS and DCM a prominent feature in several. Note previous reports, and supportive mouse model. \nSources: Literature","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-10-05T15:19:52.447402+11:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.101","user_name":"Lilian Downie","item_type":"entity","text":"gene: HSD3B2 was added\ngene: HSD3B2 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810\nReview for gene: HSD3B2 was set to GREEN\nAdded comment: Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization.\r\n\r\nSevere treatable neonatal onset disease. No reviwed by babyseq, included in NC NEXUS. \nSources: Expert list","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2020-10-05T15:15:33.399183+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4780","user_name":"Ain Roesley","item_type":"entity","text":"gene: ALS2 was added\ngene: ALS2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALS2 were set to 32214227\nPhenotypes for gene: ALS2 were set to Tetraparesis with affection of upper and lower motor neuron\nPenetrance for gene: ALS2 were set to unknown\nReview for gene: ALS2 was set to RED\nAdded comment: In a cohort of Palestinian and Israeli Arabs with neurological disorders, a family with 2 affecteds were homozygous for a nonsense variant. Authors classified as likely path by ACMG guidelines \nSources: Literature","entity_name":"ALS2","entity_type":"gene"},{"created":"2020-10-05T15:15:01.789296+11:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.101","user_name":"Lilian Downie","item_type":"entity","text":"gene: IL7R was added\ngene: IL7R was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971\nReview for gene: IL7R was set to GREEN\nAdded comment: SCID - severe neonatal presentation, treatment with BMT. Not reviewed by babyseq, included in NC NEXUS. \nSources: Expert list","entity_name":"IL7R","entity_type":"gene"},{"created":"2020-10-05T13:05:40.689119+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CCDC141 as ready","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-10-05T13:05:40.678764+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc141 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-10-05T13:05:34.156568+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCDC141 as Amber List (moderate evidence)","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-10-05T13:05:34.146756+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc141 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-10-05T13:05:20.538486+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CCDC141 was added\ngene: CCDC141 was added to Amenorrhoea. Sources: Literature\nMode of inheritance for gene: CCDC141 was set to Unknown\nPublications for gene: CCDC141 were set to 27014940; 28324054; 25192046\nPhenotypes for gene: CCDC141 were set to Anosmic hypogonadotropic hypogonadism\nReview for gene: CCDC141 was set to AMBER\nAdded comment: A consanguineous family had a homozygous nonsense variant, but also had a homozygous missense in FEZF1. 3 other families reported with heterozygous variants, but other variants in other genes present. In an olfactory mouse model, Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration. \nSources: Literature","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-10-05T11:01:08.187449+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POLR3A as ready","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-10-05T11:01:08.168558+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: polr3a has been classified as Green List (High Evidence).","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-10-05T11:00:30.121408+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLR3A as Green List (high evidence)","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-10-05T11:00:30.089093+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: polr3a has been classified as Green List (High Evidence).","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-10-05T10:59:57.612431+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.43","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POLR3A was added\ngene: POLR3A was added to Amenorrhoea. Sources: Literature\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3A were set to 25339210\nPhenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694\nReview for gene: POLR3A was set to GREEN\nAdded comment: PMID: 25339210 - delayed puberty or primary amenorrhea was present in 27/33 patients with POLR3A (81%). \nSources: Literature","entity_name":"POLR3A","entity_type":"gene"},{"created":"2020-10-05T10:46:28.375221+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POLR3B as ready","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-10-05T10:46:28.360871+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-10-05T10:46:23.798040+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLR3B as Green List (high evidence)","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-10-05T10:46:23.787972+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-10-05T10:46:04.529302+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POLR3B was added\ngene: POLR3B was added to Amenorrhoea. Sources: Literature\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3B were set to 25339210; 27512013; 26113998\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381\nReview for gene: POLR3B was set to GREEN\nAdded comment: Primary amenorrhoea can be a prominent feature of the condition in affected females. \nSources: Literature","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-10-05T10:26:12.775163+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPECC1L as ready","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2020-10-05T10:26:12.767353+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.9","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":"2020-10-05T10:26:08.597392+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPECC1L as Green List (high evidence)","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2020-10-05T10:26:08.587441+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.9","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":"2020-10-05T10:25:42.893152+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPECC1L was added\ngene: SPECC1L was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPECC1L were set to 32954677\nPhenotypes for gene: SPECC1L were set to Opitz GBBB syndrome, type II, MIM#\t145410\nReview for gene: SPECC1L was set to GREEN\nAdded comment: 5 individuals with CDH and AD Opitz GBBB syndrome caused by SPECC1L variants reported. \nSources: Literature","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2020-10-05T10:25:23.163902+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GGPS1 as ready","entity_name":"GGPS1","entity_type":"gene"},{"created":"2020-10-05T10:25:23.154828+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ggps1 has been classified as Green List (High Evidence).","entity_name":"GGPS1","entity_type":"gene"},{"created":"2020-10-05T10:25:20.587019+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GGPS1 as Green List (high evidence)","entity_name":"GGPS1","entity_type":"gene"},{"created":"2020-10-05T10:25:20.577810+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ggps1 has been classified as Green List (High Evidence).","entity_name":"GGPS1","entity_type":"gene"},{"created":"2020-10-05T10:25:12.526944+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GGPS1 was added\ngene: GGPS1 was added to Amenorrhoea. Sources: Literature\nMode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGPS1 were set to 32403198\nPhenotypes for gene: GGPS1 were set to Muscular dystrophy; deafness; ovarian insufficiency\nReview for gene: GGPS1 was set to GREEN\nAdded comment: 6 unrelated families with biallelic variants, where all postpubertal females had primary ovarian insufficiency. \nSources: Literature","entity_name":"GGPS1","entity_type":"gene"},{"created":"2020-10-05T10:05:34.217743+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4780","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: QRICH1 as ready","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:05:34.208539+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4780","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qrich1 has been classified as Green List (High Evidence).","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:05:27.771521+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4780","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: QRICH1 were changed from  to Ververi-Brady syndrome, MIM#617982","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:05:10.379050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4779","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: QRICH1 were set to ","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:04:37.080375+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4778","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: QRICH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:04:19.131224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4777","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: QRICH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28692176, 30281152, 33009816; Phenotypes: Ververi-Brady syndrome, MIM#617982; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:03:21.193814+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3060","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: QRICH1 as ready","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:03:21.180547+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3060","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qrich1 has been classified as Green List (High Evidence).","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:03:17.745275+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3060","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: QRICH1 were changed from  to Ververi-Brady syndrome, MIM#617982","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:02:57.160360+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3059","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: QRICH1 were set to ","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:02:27.758108+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3058","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: QRICH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T10:02:01.602520+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3057","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: QRICH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28692176, 30281152, 33009816; Phenotypes: Ververi-Brady syndrome, MIM#617982; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"QRICH1","entity_type":"gene"},{"created":"2020-10-05T08:33:19.298143+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SON as ready","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:33:19.271973+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: son has been classified as Green List (High Evidence).","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:33:14.024824+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SON as Green List (high evidence)","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:33:14.014155+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: son has been classified as Green List (High Evidence).","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:32:46.581664+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SON was added\ngene: SON was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review\nMode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SON were set to 27545680; 27545676; 31005274\nPhenotypes for gene: SON were set to ZTTK syndrome, MIM# 617140\nReview for gene: SON was set to GREEN\nAdded comment: ZTTK syndrome is a severe multisystem developmental disorder characterised by intellectual disability, characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most individuals also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum. More than 40 unrelated individuals reported.\r\n\r\nKidney anomalies are relatively common and include horseshoe kidney, unilateral renal hypoplasia, and renal cysts. \nSources: Expert Review","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:31:00.924060+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3057","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SON as ready","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:31:00.915741+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3057","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: son has been classified as Green List (High Evidence).","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:30:24.304231+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3057","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SON were changed from  to ZTTK syndrome, MIM# 617140","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:29:48.258682+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3056","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SON were set to ","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:29:22.563349+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3055","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:28:52.519298+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3054","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545680, 27545676, 31005274; Phenotypes: ZTTK syndrome, MIM# 617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SON","entity_type":"gene"},{"created":"2020-10-05T08:17:53.857032+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4777","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GREB1L as ready","entity_name":"GREB1L","entity_type":"gene"},{"created":"2020-10-05T08:17:53.848331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4777","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: greb1l has been classified as Green List (High Evidence).","entity_name":"GREB1L","entity_type":"gene"},{"created":"2020-10-05T08:17:48.332165+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4777","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GREB1L were changed from  to Renal hypodysplasia/aplasia 3, OMIM# 617805","entity_name":"GREB1L","entity_type":"gene"},{"created":"2020-10-05T08:17:33.275540+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4776","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GREB1L were set to ","entity_name":"GREB1L","entity_type":"gene"},{"created":"2020-10-05T08:17:17.221681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4775","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GREB1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GREB1L","entity_type":"gene"},{"created":"2020-10-05T08:17:00.302614+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4774","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100091; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GREB1L","entity_type":"gene"},{"created":"2020-10-05T08:10:31.193051+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4774","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL1RAP as ready","entity_name":"IL1RAP","entity_type":"gene"},{"created":"2020-10-05T08:10:31.178316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4774","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il1rap has been classified as Red List (Low Evidence).","entity_name":"IL1RAP","entity_type":"gene"},{"created":"2020-10-05T08:10:21.390037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4774","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL1RAP was added\ngene: IL1RAP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IL1RAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL1RAP were set to 31954058\nPhenotypes for gene: IL1RAP were set to Steroid-sensitive nephrotic syndrome\nReview for gene: IL1RAP was set to RED\nAdded comment: A pair of siblings with compound heterozygous variants in this gene and steroid-sensitive nephrotic syndrome. Functional effect of variants demonstrated but mouse model does not have proteinuria. \nSources: Literature","entity_name":"IL1RAP","entity_type":"gene"},{"created":"2020-10-05T08:08:49.537815+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL1RAP as ready","entity_name":"IL1RAP","entity_type":"gene"},{"created":"2020-10-05T08:08:49.525627+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il1rap has been classified as Red List (Low Evidence).","entity_name":"IL1RAP","entity_type":"gene"},{"created":"2020-10-05T08:08:42.194011+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL1RAP was added\ngene: IL1RAP was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: IL1RAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL1RAP were set to 31954058\nPhenotypes for gene: IL1RAP were set to Steroid-sensitive nephrotic syndrome\nReview for gene: IL1RAP was set to RED\nAdded comment: A pair of siblings with compound heterozygous variants in this gene and steroid-sensitive nephrotic syndrome. Functional effect of variants demonstrated but mouse model does not have proteinuria. \nSources: Literature","entity_name":"IL1RAP","entity_type":"gene"},{"created":"2020-10-05T07:59:28.148133+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAT1 were set to 30862798; 26905694","entity_name":"FAT1","entity_type":"gene"},{"created":"2020-10-05T07:58:55.908098+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Another 5 families reported.; to: Another 5 families reported with syndromic proteinuria.","entity_name":"FAT1","entity_type":"gene"},{"created":"2020-10-05T07:58:24.339308+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAT1: Added comment: PMID 32902815: bi-allelic variants in association with proteinuria and no syndromic features reported.; Changed publications: 30862798, 32902815","entity_name":"FAT1","entity_type":"gene"},{"created":"2020-10-04T20:06:05.741746+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRRT2 as ready","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-10-04T20:06:05.732362+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-10-04T20:06:02.675526+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRRT2 were changed from  to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-10-04T20:05:45.789933+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRRT2 were set to 22101681; 22744660; 31124310; 26561923","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-10-04T20:05:16.077789+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRRT2 as Amber List (moderate evidence)","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-10-04T20:05:16.067568+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-10-04T20:04:09.263070+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24928127; Phenotypes: Episodic kinesigenic dyskinesia 1, MIM# 128200, Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-10-04T20:01:49.210543+11:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRRT2 were set to ","entity_name":"PRRT2","entity_type":"gene"}]}