{"count":220488,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=969","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=967","results":[{"created":"2022-02-24T16:35:11.175170+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4174","user_name":"Chirag Patel","item_type":"entity","text":"gene: GDF3 was added\ngene: GDF3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GDF3 were set to PubMed: 19864492\nPhenotypes for gene: GDF3 were set to Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704\nReview for gene: GDF3 was set to GREEN\nAdded comment: Ye et al. (2010) identified heterozygous missense mutations in the GDF3 gene in 3 probands with bilateral colobomatous microphthalmia. \nSources: Literature","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-24T16:22:56.327830+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4173","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: COL27A1 as Green List (high evidence)","entity_name":"COL27A1","entity_type":"gene"},{"created":"2022-02-24T16:22:56.315706+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4173","user_name":"Chirag Patel","item_type":"entity","text":"Gene: col27a1 has been classified as Green List (High Evidence).","entity_name":"COL27A1","entity_type":"gene"},{"created":"2022-02-24T16:22:30.483294+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4172","user_name":"Chirag Patel","item_type":"entity","text":"gene: COL27A1 was added\ngene: COL27A1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL27A1 were set to PubMed: 24986830, 28276056, 28322503\nPhenotypes for gene: COL27A1 were set to Steel syndrome, OMIM #615155\nReview for gene: COL27A1 was set to GREEN\nAdded comment: Steel syndrome is characterized by characteristic facies, congenital dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention. 3 families with biallelic variants reported. \nSources: Literature","entity_name":"COL27A1","entity_type":"gene"},{"created":"2022-02-24T16:19:04.896339+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4171","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: CHST11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"CHST11","entity_type":"gene"},{"created":"2022-02-24T16:18:04.717738+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4171","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their review","entity_name":"CHST11","entity_type":"gene"},{"created":"2022-02-24T16:17:23.936623+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4171","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CHST11 as Amber List (moderate evidence)","entity_name":"CHST11","entity_type":"gene"},{"created":"2022-02-24T16:17:23.922299+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4171","user_name":"Chirag Patel","item_type":"entity","text":"Gene: chst11 has been classified as Amber List (Moderate Evidence).","entity_name":"CHST11","entity_type":"gene"},{"created":"2022-02-24T16:17:12.185308+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4170","user_name":"Chirag Patel","item_type":"entity","text":"gene: CHST11 was added\ngene: CHST11 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: CHST11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST11 were set to PMID: 26436107; 29514872\nPhenotypes for gene: CHST11 were set to Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167\nReview for gene: CHST11 was set to GREEN\nAdded comment: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum. Two unrelated families reported, note one had a homozygous deletion. \nSources: Expert list","entity_name":"CHST11","entity_type":"gene"},{"created":"2022-02-24T16:01:22.201936+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4169","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PRDM15 as Amber List (moderate evidence)","entity_name":"PRDM15","entity_type":"gene"},{"created":"2022-02-24T16:01:22.190789+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4169","user_name":"Chirag Patel","item_type":"entity","text":"Gene: prdm15 has been classified as Amber List (Moderate Evidence).","entity_name":"PRDM15","entity_type":"gene"},{"created":"2022-02-24T16:01:10.707025+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4168","user_name":"Chirag Patel","item_type":"entity","text":"gene: PRDM15 was added\ngene: PRDM15 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM15 were set to PMID: 31950080\nPhenotypes for gene: PRDM15 were set to Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies\nReview for gene: PRDM15 was set to AMBER\nAdded comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data. Two additional homozygous missense identified with isolated SRNS. \nSources: Expert list","entity_name":"PRDM15","entity_type":"gene"},{"created":"2022-02-24T15:59:15.695612+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4167","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NODAL as Red List (low evidence)","entity_name":"NODAL","entity_type":"gene"},{"created":"2022-02-24T15:59:15.685167+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4167","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nodal has been classified as Red List (Low Evidence).","entity_name":"NODAL","entity_type":"gene"},{"created":"2022-02-24T15:56:25.585545+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FERMT3 as ready","entity_name":"FERMT3","entity_type":"gene"},{"created":"2022-02-24T15:56:25.573877+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fermt3 has been classified as Red List (Low Evidence).","entity_name":"FERMT3","entity_type":"gene"},{"created":"2022-02-24T15:41:58.722741+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4166","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RNF113A as Green List (high evidence)","entity_name":"RNF113A","entity_type":"gene"},{"created":"2022-02-24T15:41:58.710635+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4166","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rnf113a has been classified as Green List (High Evidence).","entity_name":"RNF113A","entity_type":"gene"},{"created":"2022-02-24T15:41:48.360609+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4165","user_name":"Chirag Patel","item_type":"entity","text":"gene: RNF113A was added\ngene: RNF113A was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RNF113A were set to PMID: 25612912; 31793730; 31880405\nPhenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953\nReview for gene: RNF113A was set to GREEN\nAdded comment: Four families reported, two with same variant. Clinical features include ID, microcephaly, IUGR/growth failure, hypogonadism, and sparse/brittle hair. One of the families had antenatal presentation. \nSources: Expert list","entity_name":"RNF113A","entity_type":"gene"},{"created":"2022-02-24T15:40:30.402105+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4164","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RAP1B as Green List (high evidence)","entity_name":"RAP1B","entity_type":"gene"},{"created":"2022-02-24T15:40:30.384067+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4164","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rap1b has been classified as Green List (High Evidence).","entity_name":"RAP1B","entity_type":"gene"},{"created":"2022-02-24T15:40:04.576093+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4163","user_name":"Chirag Patel","item_type":"entity","text":"gene: RAP1B was added\ngene: RAP1B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAP1B were set to PMID: 32627184; 26280580\nPhenotypes for gene: RAP1B were set to Syndromic intellectual disability; short stature\nReview for gene: RAP1B was set to GREEN\nAdded comment: Three unrelated individuals reported, Kabuki-like disorder (multiple malformations, microcephaly, learning difficulties, dysmorphism and other features). \nSources: Literature","entity_name":"RAP1B","entity_type":"gene"},{"created":"2022-02-24T15:37:28.902153+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4162","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RAD50 as Green List (high evidence)","entity_name":"RAD50","entity_type":"gene"},{"created":"2022-02-24T15:37:28.881939+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4162","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rad50 has been classified as Green List (High Evidence).","entity_name":"RAD50","entity_type":"gene"},{"created":"2022-02-24T15:36:40.956725+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4161","user_name":"Chirag Patel","item_type":"entity","text":"gene: RAD50 was added\ngene: RAD50 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD50 were set to PMID: 19409520; 32212377; 33378670\nPhenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118\nReview for gene: RAD50 was set to GREEN\nAdded comment: Nijmegen breakage syndrome-like disorder (NBSLD) is an autosomal recessive disorder characterized by severe prenatal growth retardation and persistent postnatal growth restriction, congenital microcephaly, borderline to mildly impaired intellectual development, normal sexual development, and radioresistant DNA synthesis with no immunodeficiency, myelodysplasia, or early neurodegeneration. Three unrelated families reported. \nSources: Expert list","entity_name":"RAD50","entity_type":"gene"},{"created":"2022-02-24T15:34:21.126990+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4160","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PROP1 as Red List (low evidence)","entity_name":"PROP1","entity_type":"gene"},{"created":"2022-02-24T15:34:21.114711+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4160","user_name":"Chirag Patel","item_type":"entity","text":"Gene: prop1 has been classified as Red List (Low Evidence).","entity_name":"PROP1","entity_type":"gene"},{"created":"2022-02-24T15:28:19.433008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4159","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LHX4 as Red List (low evidence)","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-02-24T15:28:19.423589+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4159","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lhx4 has been classified as Red List (Low Evidence).","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-02-24T15:28:08.732682+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4158","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-02-24T15:21:04.078733+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4158","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FRA10AC1 as Green List (high evidence)","entity_name":"FRA10AC1","entity_type":"gene"},{"created":"2022-02-24T15:21:04.056932+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4158","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fra10ac1 has been classified as Green List (High Evidence).","entity_name":"FRA10AC1","entity_type":"gene"},{"created":"2022-02-24T15:20:50.145027+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4157","user_name":"Chirag Patel","item_type":"entity","text":"gene: FRA10AC1 was added\ngene: FRA10AC1 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRA10AC1 were set to PMID: 34694367\nPhenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related\nReview for gene: FRA10AC1 was set to GREEN\nAdded comment: 5 individuals from 3 unrelated families reported. Variable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. \nSources: Expert list","entity_name":"FRA10AC1","entity_type":"gene"},{"created":"2022-02-24T15:17:14.182583+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4156","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DNA2 as Green List (high evidence)","entity_name":"DNA2","entity_type":"gene"},{"created":"2022-02-24T15:17:14.168518+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4156","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dna2 has been classified as Green List (High Evidence).","entity_name":"DNA2","entity_type":"gene"},{"created":"2022-02-24T15:17:04.330948+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4155","user_name":"Chirag Patel","item_type":"entity","text":"gene: DNA2 was added\ngene: DNA2 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNA2 were set to PMID: 24389050; 31045292\nPhenotypes for gene: DNA2 were set to Seckel syndrome 8, MIM#615807\nReview for gene: DNA2 was set to GREEN\nAdded comment: Three families described with bi-allelic variants in this gene and a primordial dwarfism/Seckel syndrome phenotype (intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance). Note this gene is associated with multiple phenotypes. \nSources: Expert list","entity_name":"DNA2","entity_type":"gene"},{"created":"2022-02-24T15:13:21.229689+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4154","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BRD4 as Green List (high evidence)","entity_name":"BRD4","entity_type":"gene"},{"created":"2022-02-24T15:13:21.220267+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4154","user_name":"Chirag Patel","item_type":"entity","text":"Gene: brd4 has been classified as Green List (High Evidence).","entity_name":"BRD4","entity_type":"gene"},{"created":"2022-02-24T15:13:10.006866+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4153","user_name":"Chirag Patel","item_type":"entity","text":"gene: BRD4 was added\ngene: BRD4 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299\nPhenotypes for gene: BRD4 were set to Cornelia de Lange syndrome (no OMIM# yet)\nReview for gene: BRD4 was set to GREEN\nAdded comment: Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, prenatal onset growth retardation, and developmental delay. About 1% of patients have mutations in the BRD4 gene. % patients reported with functional evidence. \nSources: Expert list","entity_name":"BRD4","entity_type":"gene"},{"created":"2022-02-24T14:59:57.960846+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4152","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PPP1R12A as Green List (high evidence)","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2022-02-24T14:59:57.949784+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4152","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ppp1r12a has been classified as Green List (High Evidence).","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2022-02-24T14:59:45.874934+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4151","user_name":"Chirag Patel","item_type":"entity","text":"gene: PPP1R12A was added\ngene: PPP1R12A was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP1R12A were set to PMID: 31883643\nPhenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development\nReview for gene: PPP1R12A was set to GREEN\nAdded comment: 12 unrelated individuals now published. \nSources: Expert list","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2022-02-24T14:57:06.921814+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4150","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MNS1 as Green List (high evidence)","entity_name":"MNS1","entity_type":"gene"},{"created":"2022-02-24T14:57:06.912727+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4150","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mns1 has been classified as Green List (High Evidence).","entity_name":"MNS1","entity_type":"gene"},{"created":"2022-02-24T14:56:32.896430+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4149","user_name":"Chirag Patel","item_type":"entity","text":"gene: MNS1 was added\ngene: MNS1 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MNS1 were set to PMID: 31534215; 30148830\nPhenotypes for gene: MNS1 were set to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility 618948\nReview for gene: MNS1 was set to GREEN\nAdded comment: Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated. \nSources: Expert list","entity_name":"MNS1","entity_type":"gene"},{"created":"2022-02-24T14:55:09.829125+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4148","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CFAP52 as Green List (high evidence)","entity_name":"CFAP52","entity_type":"gene"},{"created":"2022-02-24T14:55:09.818263+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4148","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cfap52 has been classified as Green List (High Evidence).","entity_name":"CFAP52","entity_type":"gene"},{"created":"2022-02-24T14:54:56.682285+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4147","user_name":"Chirag Patel","item_type":"entity","text":"gene: CFAP52 was added\ngene: CFAP52 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP52 were set to PMID: 25469542; 33139725\nPhenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607\nReview for gene: CFAP52 was set to GREEN\nAdded comment: Five unrelated families and functional data. \nSources: Expert list","entity_name":"CFAP52","entity_type":"gene"},{"created":"2022-02-24T14:54:00.228775+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4146","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CFAP45 as Green List (high evidence)","entity_name":"CFAP45","entity_type":"gene"},{"created":"2022-02-24T14:54:00.215510+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4146","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cfap45 has been classified as Green List (High Evidence).","entity_name":"CFAP45","entity_type":"gene"},{"created":"2022-02-24T14:53:46.539262+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4145","user_name":"Chirag Patel","item_type":"entity","text":"gene: CFAP45 was added\ngene: CFAP45 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP45 were set to PMID: 33139725\nPhenotypes for gene: CFAP45 were set to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608\nReview for gene: CFAP45 was set to GREEN\nAdded comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype. \nSources: Expert list","entity_name":"CFAP45","entity_type":"gene"},{"created":"2022-02-24T14:43:52.262067+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4144","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: EDN3 as Green List (high evidence)","entity_name":"EDN3","entity_type":"gene"},{"created":"2022-02-24T14:43:52.252566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4144","user_name":"Chirag Patel","item_type":"entity","text":"Gene: edn3 has been classified as Green List (High Evidence).","entity_name":"EDN3","entity_type":"gene"},{"created":"2022-02-24T14:43:37.618446+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4143","user_name":"Chirag Patel","item_type":"entity","text":"gene: EDN3 was added\ngene: EDN3 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EDN3 were set to PMID: 8630502; 11303518; 9359047; 10231870; 30171849; 27370713\nPhenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712\nReview for gene: EDN3 was set to GREEN\nAdded comment: Variants in this gene have been reported in both isolated HD and syndromic HD, variable penetrance. However, the variants reported in PMID 9359047 with isolated HD are present at high frequencies in gnomad: p.Ala17Thr >800 hets in gnomad, p.Ala224Thr >100 hets. Association with syndromic neural crest disorders is more definitive, and HD is reported in a proportion of individuals. \nSources: Expert list","entity_name":"EDN3","entity_type":"gene"},{"created":"2022-02-24T14:35:17.981473+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11070","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SOST as ready","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:35:17.969763+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11070","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sost has been classified as Green List (High Evidence).","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:35:11.678557+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11070","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SOST were changed from  to Sclerosteosis 1, OMIM#269500; Craniodiaphyseal dysplasia, OMIM#122860","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:34:52.390650+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11069","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SOST were set to ","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:34:44.718658+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11068","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SOST was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:34:23.447433+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4142","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SOST as ready","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:34:23.429193+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4142","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sost has been classified as Green List (High Evidence).","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:34:11.930837+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4142","user_name":"Seb Lunke","item_type":"entity","text":"changed review comment from: Well established association with recessive Sclerosteosis 1 (OMIM#122860) characterised by overgrowth and multiple facial and skeletal abnormalities\r\n\r\nDominant association with Craniodiaphyseal dysplasia (OMIM#122860) has been described in two indipendent patients only, with different missense variants at the same residue (V21M, V21L)\r\n\r\nNOTE: Common 52-kb deletion downstream of SOST (van Buchem disease, MIM#239100); to: Well established association with recessive Sclerosteosis 1 (OMIM#269500) characterised by overgrowth and multiple facial and skeletal abnormalities\r\n\r\nDominant association with Craniodiaphyseal dysplasia (OMIM#122860) has been described in two indipendent patients only, with different missense variants at the same residue (V21M, V21L)\r\n\r\nNOTE: Common 52-kb deletion downstream of SOST (van Buchem disease, MIM#239100)","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:33:57.644545+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11067","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301406, 35160258, 21221996, 17853455; Phenotypes: Sclerosteosis 1, OMIM#269500, Craniodiaphyseal dysplasia, OMIM#122860; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:33:35.250764+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4142","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SOST were changed from Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; SOST-Related Sclerosing Bone Dysplasias 122860 to Sclerosteosis 1, OMIM#269500; Craniodiaphyseal dysplasia, OMIM#122860","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:32:07.249117+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4141","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301406, 35160258, 21221996, 17853455; Phenotypes: Sclerosteosis 1, OMIM#122860, Craniodiaphyseal dysplasia, OMIM#122860; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SOST","entity_type":"gene"},{"created":"2022-02-24T14:10:30.950962+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4141","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SOX2 as ready","entity_name":"SOX2","entity_type":"gene"},{"created":"2022-02-24T14:10:30.935329+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4141","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sox2 has been classified as Green List (High Evidence).","entity_name":"SOX2","entity_type":"gene"},{"created":"2022-02-24T14:10:26.360891+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4141","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SOX2 were changed from AEG SYNDROME; MICROPHTHALMIA SYNDROMIC TYPE 3 to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900","entity_name":"SOX2","entity_type":"gene"},{"created":"2022-02-24T14:10:17.456712+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4140","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SOX2 were set to ","entity_name":"SOX2","entity_type":"gene"},{"created":"2022-02-24T14:10:08.007304+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4139","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SOX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX2","entity_type":"gene"},{"created":"2022-02-24T14:05:22.423530+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4138","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SOX3 as ready","entity_name":"SOX3","entity_type":"gene"},{"created":"2022-02-24T14:05:22.412210+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4138","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sox3 has been classified as Amber List (Moderate Evidence).","entity_name":"SOX3","entity_type":"gene"},{"created":"2022-02-24T14:05:02.428938+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4138","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SOX3 were set to ","entity_name":"SOX3","entity_type":"gene"},{"created":"2022-02-24T14:04:01.771413+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4137","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on mode of pathogenicity: Mouse model demonstrates that mechanism of disease is polyAlanine tract leading to a loss of function of the protein","entity_name":"SOX3","entity_type":"gene"},{"created":"2022-02-24T14:04:01.677167+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4137","user_name":"Seb Lunke","item_type":"entity","text":"Mode of pathogenicity for gene: SOX3 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"SOX3","entity_type":"gene"},{"created":"2022-02-24T14:03:19.383465+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4136","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SOX3 as Amber List (moderate evidence)","entity_name":"SOX3","entity_type":"gene"},{"created":"2022-02-24T14:03:19.378440+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4136","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Ala Repeat expansion linked to growth hormone deficiency, but not much evidence so far, onset appears post-natal, and described brain MRI findings appear subtle.","entity_name":"SOX3","entity_type":"gene"},{"created":"2022-02-24T14:03:19.345158+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4136","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sox3 has been classified as Amber List (Moderate Evidence).","entity_name":"SOX3","entity_type":"gene"},{"created":"2022-02-24T14:00:12.701954+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FERMT3 as Red List (low evidence)","entity_name":"FERMT3","entity_type":"gene"},{"created":"2022-02-24T14:00:12.687711+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fermt3 has been classified as Red List (Low Evidence).","entity_name":"FERMT3","entity_type":"gene"},{"created":"2022-02-24T13:37:27.552170+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4134","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SPAG1 as ready","entity_name":"SPAG1","entity_type":"gene"},{"created":"2022-02-24T13:37:27.545231+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4134","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment when marking as ready: Situs inversus in 50% of patients","entity_name":"SPAG1","entity_type":"gene"},{"created":"2022-02-24T13:37:27.513214+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4134","user_name":"Seb Lunke","item_type":"entity","text":"Gene: spag1 has been classified as Green List (High Evidence).","entity_name":"SPAG1","entity_type":"gene"},{"created":"2022-02-24T13:36:24.352774+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4134","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SPAG1 were changed from PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. to Ciliary dyskinesia, primary, 28 (MIM#615505)","entity_name":"SPAG1","entity_type":"gene"},{"created":"2022-02-24T13:36:12.806692+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4133","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on publications: 32622824 Withdrawn","entity_name":"SPAG1","entity_type":"gene"},{"created":"2022-02-24T13:36:12.772946+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4133","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SPAG1 were set to ","entity_name":"SPAG1","entity_type":"gene"},{"created":"2022-02-24T12:50:13.920048+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.9","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: RASGRP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28637664, 28726538, 28762304, 30046681, 34066320, 33711653, 33376940, 32609603, 30849270, 30046681; Phenotypes: ?Bleeding disorder, platelet-type, 18 - MIM#615888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RASGRP2","entity_type":"gene"},{"created":"2022-02-24T12:40:03.292751+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.9","user_name":"Krithika Murali","item_type":"entity","text":"Deleted their review","entity_name":"RASGRP2","entity_type":"gene"},{"created":"2022-02-24T12:36:40.303786+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.9","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: RASGRP2: Rating: RED; Mode of pathogenicity: None; Publications: 28637664, 28726538, 28762304, 30046681, 34066320, 33711653, 33376940, 32609603, 30849270, 30046681; Phenotypes: ?Bleeding disorder, platelet-type, 18  - MIM#615888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RASGRP2","entity_type":"gene"},{"created":"2022-02-24T12:34:43.652257+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4132","user_name":"Krithika Murali","item_type":"entity","text":"gene: RASGRP2 was added\ngene: RASGRP2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RASGRP2 were set to 28637664; 28726538; 28762304; 30046681; 34066320; 33711653; 33376940; 32609603; 30849270; 30046681\nPhenotypes for gene: RASGRP2 were set to ?Bleeding disorder, platelet-type, 18 - MIM#615888\nReview for gene: RASGRP2 was set to RED\nAdded comment: Postnatal presentation only with no antenatal features reported. \nSources: Literature","entity_name":"RASGRP2","entity_type":"gene"},{"created":"2022-02-24T12:02:15.364999+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4132","user_name":"Belinda Chong","item_type":"entity","text":"gene: ALG14 was added\ngene: ALG14 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG14 were set to 23404334; 28733338; 30221345; 23404334; 28733338\nPhenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation\nReview for gene: ALG14 was set to GREEN\ngene: ALG14 was marked as current diagnostic\nAdded comment: Three OMIM disorders however, only Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 with prenatal manifestations.\r\n\r\n5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation. The three OMIM disorders may represent a spectrum of severity for CDG. \nSources: Literature","entity_name":"ALG14","entity_type":"gene"},{"created":"2022-02-24T11:44:47.287754+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4132","user_name":"Krithika Murali","item_type":"entity","text":"gene: PLEKHM1 was added\ngene: PLEKHM1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PLEKHM1 were set to 17404618; 17997709; 27291868; 27777970; 28290981\nPhenotypes for gene: PLEKHM1 were set to ?Osteopetrosis, autosomal recessive 6  - MIM#611497; Osteopetrosis, autosomal dominant 3 - MIM#618107\nReview for gene: PLEKHM1 was set to RED\nAdded comment: No antenatal features reported. \r\n\r\n--\r\nPMID: 17997709 Del Fattore et al 2008 - female proband with monoallelic variant, no antenatal features reported.\r\n\r\nPMID: 27291868 Bo et al 2016 - male proband with osteopetrosis and heterozygous de novo variant. No antenatal features reported.\r\n\r\nPMID: 28290981 Moore et al 2017 - compound het variants, osteopetrosis diagnosis in a 19 year old. No antenatal features reported.\r\n\r\nPMID: 21054159 Almarzooqi et al 2010 - heterozygous variant, infantile osteopetrosis and xanthogranuloma, uncomplicated pregnancy. \nSources: Literature","entity_name":"PLEKHM1","entity_type":"gene"},{"created":"2022-02-24T10:52:16.412113+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4132","user_name":"Krithika Murali","item_type":"entity","text":"gene: FERMT3 was added\ngene: FERMT3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FERMT3 were set to 31068971; 34485203; 33391282; 31724816; 30412664; 25854317; 28095295; 26359933; 25072369; 22134107; 20216991; 19234463; 19234460; 18779414\nPhenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III - MIM#612840\nReview for gene: FERMT3 was set to RED\nAdded comment: Biallelic variants associated with LAD3 syndrome (primary immunodeficiency and platelet function defects). Symptom onset reported from birth, no antenatal features reported.\r\n\r\n---\r\n\r\nPMID: 34485203 Yahya et al 2021 - no antenatal issues reported\r\n\r\nPMID: 33391282 Kambli et al 2020 - no antenatal features reported for 5 individuals with LAD3\r\n\r\nPMID 31068971 Shahid et al 2019 - no antenatal features\r\n\r\nPMID: 31724816 Manukjan et al 2019 - no antenatal issues reported in 1 affected individual\r\n\r\nPMID: 28095295 Palagano et al 2017 - report female proband with infantile-onset osteopetrosis and symptomatic haematological anomalies at birth requiring bone marrow transplant. Authors postulate in utero onset but no antenatal features reported.\r\n\r\nPMID: 26359933 Suratannon et al 2016 - report a female Thai proband with a milder/atypical phenotype, no antenatal features reported\r\n\r\nPMID: 25854317 Crazzolara et al 2015 - presented D7 of life with infection, bleeeding issues and noted radiologically to have dense bones. No antenatal features.\r\n\r\nPMID: 25072369 Stepensky et al 2015 - report 3 individuals with bleeding tendency from birth and onset of recurrent infections as an infant, normal antenatal history.\r\n\r\nPMID: 20357244 McDowall et al 2010 - symptom onset from birth, no antenatal features\r\n\r\nPMID: 20216991 Jurk et al 2010 - 2 affected siblings, no antenatal features reported.\r\n\r\nPMID: 19234463 Svensson et al 2009 - no antenatal features reported\r\n\r\nPMID: 19234460 Malinin et al 2009 - no antenatal features reported\r\n\r\nPMID: 19064721 Kuijpers et al 2009 - 9 individuals from 7 unrelated families, no antenatal features reported. \nSources: Literature","entity_name":"FERMT3","entity_type":"gene"},{"created":"2022-02-24T10:08:02.028357+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA5 as ready","entity_name":"SPATA5","entity_type":"gene"},{"created":"2022-02-24T10:08:01.983293+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5 has been classified as Green List (High Evidence).","entity_name":"SPATA5","entity_type":"gene"},{"created":"2022-02-24T10:07:56.710357+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPATA5 were changed from EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577","entity_name":"SPATA5","entity_type":"gene"},{"created":"2022-02-24T10:07:40.980984+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4131","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPATA5 were set to ","entity_name":"SPATA5","entity_type":"gene"},{"created":"2022-02-24T10:06:52.803651+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPEG as ready","entity_name":"SPEG","entity_type":"gene"},{"created":"2022-02-24T10:06:52.794916+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: speg has been classified as Green List (High Evidence).","entity_name":"SPEG","entity_type":"gene"},{"created":"2022-02-24T10:00:53.190764+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPEG were changed from CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY to Centronuclear myopathy 5, MIM# 615959","entity_name":"SPEG","entity_type":"gene"}]}