{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1490","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1488","results":[{"created":"2020-12-03T10:58:41.097394+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5511","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXA2 as ready","entity_name":"FOXA2","entity_type":"gene"},{"created":"2020-12-03T10:58:41.086420+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5511","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxa2 has been classified as Green List (High Evidence).","entity_name":"FOXA2","entity_type":"gene"},{"created":"2020-12-03T10:58:32.644906+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5511","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXA2 as Green List (high evidence)","entity_name":"FOXA2","entity_type":"gene"},{"created":"2020-12-03T10:58:32.637113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5511","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxa2 has been classified as Green List (High Evidence).","entity_name":"FOXA2","entity_type":"gene"},{"created":"2020-12-03T10:57:47.008166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5510","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXA2 was added\ngene: FOXA2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXA2 were set to 29329447; 28973288; 11445544\nPhenotypes for gene: FOXA2 were set to Hyperinsulinaemia\nReview for gene: FOXA2 was set to GREEN\nAdded comment: At least two families reported and functional data. \nSources: Expert Review","entity_name":"FOXA2","entity_type":"gene"},{"created":"2020-12-03T08:20:47.804081+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP7 as ready","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:20:47.792471+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp7 has been classified as Green List (High Evidence).","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:20:42.828273+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP7 were changed from  to Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:20:11.754062+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP7 were set to ","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:19:40.279950+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: USP7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:19:09.868352+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26365382, 30679821; Phenotypes: Hao-Fountain syndrome, MIM# 616863, Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:17:31.733073+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5509","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP7 were changed from Intellectual disability; Autism to Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:17:09.482754+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5508","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP7 were set to 30679821","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:16:46.284907+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5507","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: USP7: Added comment: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.; Changed publications: 26365382, 30679821; Changed phenotypes: Hao-Fountain syndrome, MIM# 616863, Intellectual disability, Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:16:01.478557+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP7 were changed from ID; Autism to Hao-Fountain syndrome, MIM# 616863; ID; Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:15:27.078606+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3228","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP7 were set to 30679821","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:14:48.382373+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3227","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: USP7: Changed publications: 26365382, 30679821","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T08:14:11.666247+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3227","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hao-Fountain syndrome, MIM# 616863; Mode of inheritance: None","entity_name":"USP7","entity_type":"gene"},{"created":"2020-12-03T05:45:30.665338+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5507","user_name":"Eleanor Williams","item_type":"entity","text":"gene: FKBP8 was added\ngene: FKBP8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FKBP8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FKBP8 were set to 32969478\nPhenotypes for gene: FKBP8 were set to spina bifida HP:0002414\nReview for gene: FKBP8 was set to AMBER\nAdded comment: Not associated with a phenotype in OMIM. \r\n\r\nPMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects.\r\n\r\nSufficient cases to rate green, but only the FKBP8 gene looked at so perhaps some caution required while further evidence is gathered. \nSources: Literature","entity_name":"FKBP8","entity_type":"gene"},{"created":"2020-12-03T04:40:32.392161+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5507","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: TONSL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30773277, 30773278, 32959051; Phenotypes: Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510, spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T03:15:22.745814+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5507","user_name":"Eleanor Williams","item_type":"entity","text":"changed review comment from: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging.  the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). \nSources: Literature; to: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging.  the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families).  Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.\r\n\r\nSources: Literature","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T03:00:54.362455+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5507","user_name":"Eleanor Williams","item_type":"entity","text":"gene: CAPN15 was added\ngene: CAPN15 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPN15 were set to 32885237\nPhenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589\nReview for gene: CAPN15 was set to GREEN\nAdded comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging.  the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). \nSources: Literature","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T02:14:32.360588+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5507","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-12-02T22:37:16.396811+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3227","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32409512; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-02T18:38:38.872898+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5507","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYF5 as ready","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:38:38.861643+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5507","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myf5 has been classified as Green List (High Evidence).","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:38:31.244123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5507","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYF5 were changed from  to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:38:12.842232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5506","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYF5 were set to ","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:37:55.501682+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5505","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:37:38.652447+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5504","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29887215, 15386014, 1423602, 9268580, 8918877; Phenotypes: Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:36:42.213207+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYF5 were set to PMID: 29887215","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:35:22.501712+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYF5 as ready","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:35:22.494233+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myf5 has been classified as Green List (High Evidence).","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:35:11.090506+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYF5 as Green List (high evidence)","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:35:11.081231+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myf5 has been classified as Green List (High Evidence).","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T18:34:39.493959+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGUOK as ready","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-12-02T18:34:39.485887+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dguok has been classified as Green List (High Evidence).","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-12-02T18:34:34.475721+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DGUOK as Green List (high evidence)","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-12-02T18:34:34.463953+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dguok has been classified as Green List (High Evidence).","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-12-02T18:34:22.343217+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRM2B as ready","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-12-02T18:34:22.327826+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rrm2b has been classified as Green List (High Evidence).","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-12-02T18:34:15.380103+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RRM2B as Green List (high evidence)","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-12-02T18:34:15.369322+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rrm2b has been classified as Green List (High Evidence).","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-12-02T18:33:10.696185+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG2 as ready","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-12-02T18:33:10.683334+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg2 has been classified as Green List (High Evidence).","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-12-02T18:33:02.044196+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLG2 were set to PMID: 21555342; 16685652","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-12-02T18:32:53.134317+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLG2 as Green List (high evidence)","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-12-02T18:32:53.121383+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg2 has been classified as Green List (High Evidence).","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-12-02T18:28:58.261505+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37421-Loss as ready","entity_name":"ISCA-37421-Loss","entity_type":"region"},{"created":"2020-12-02T18:28:58.254144+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37421-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37421-Loss","entity_type":"region"},{"created":"2020-12-02T18:28:54.450314+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37421-Loss as Green List (high evidence)","entity_name":"ISCA-37421-Loss","entity_type":"region"},{"created":"2020-12-02T18:28:54.442386+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37421-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37421-Loss","entity_type":"region"},{"created":"2020-12-02T18:28:45.307613+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37421-Loss was added\nRegion: ISCA-37421-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37421-Loss.\nMode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37421-Loss were set to 32655619\nPhenotypes for Region: ISCA-37421-Loss were set to Chromosome 1q21.1 deletion syndrome, MIM#\t612474; intellectual disability; microcephaly; congenital anomalies\nReview for Region: ISCA-37421-Loss was set to GREEN\nAdded comment: Well established CNV. \nSources: Expert list","entity_name":"ISCA-37421-Loss","entity_type":"region"},{"created":"2020-12-02T18:24:11.852130+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37421-Gain as ready","entity_name":"ISCA-37421-Gain","entity_type":"region"},{"created":"2020-12-02T18:24:11.844758+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37421-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37421-Gain","entity_type":"region"},{"created":"2020-12-02T18:24:05.349065+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37421-Gain as Green List (high evidence)","entity_name":"ISCA-37421-Gain","entity_type":"region"},{"created":"2020-12-02T18:24:05.341473+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37421-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37421-Gain","entity_type":"region"},{"created":"2020-12-02T18:23:56.211912+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37421-Gain was added\nRegion: ISCA-37421-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37421-Gain.\nMode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37421-Gain were set to 32655619\nPhenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome, MIM#\t612475; intellectual disability; autism; macrocephaly\nReview for Region: ISCA-37421-Gain was set to GREEN\nAdded comment: Well established CNV \nSources: Expert list","entity_name":"ISCA-37421-Gain","entity_type":"region"},{"created":"2020-12-02T18:11:32.145178+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37420-Loss as ready","entity_name":"ISCA-37420-Loss","entity_type":"region"},{"created":"2020-12-02T18:11:32.135410+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37420-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37420-Loss","entity_type":"region"},{"created":"2020-12-02T18:11:28.863177+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37420-Loss as Green List (high evidence)","entity_name":"ISCA-37420-Loss","entity_type":"region"},{"created":"2020-12-02T18:11:28.855517+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37420-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37420-Loss","entity_type":"region"},{"created":"2020-12-02T18:11:00.270847+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37420-Loss was added\nRegion: ISCA-37420-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37420-Loss.\nMode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37420-Loss were set to Koolen-De Vries syndrome, MIM#\t610443; intellectual disability; hypotonia; dysmorphic features\nReview for Region: ISCA-37420-Loss was set to GREEN\nAdded comment: Well established CNV, features of KDVS due to KANSL1 deletion. \nSources: Expert list","entity_name":"ISCA-37420-Loss","entity_type":"region"},{"created":"2020-12-02T18:06:22.666519+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA_37418-Loss as ready","entity_name":"ISCA_37418-Loss","entity_type":"region"},{"created":"2020-12-02T18:06:22.654793+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca_37418-loss has been classified as Green List (High Evidence).","entity_name":"ISCA_37418-Loss","entity_type":"region"},{"created":"2020-12-02T18:06:18.818859+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA_37418-Loss as Green List (high evidence)","entity_name":"ISCA_37418-Loss","entity_type":"region"},{"created":"2020-12-02T18:06:18.808894+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca_37418-loss has been classified as Green List (High Evidence).","entity_name":"ISCA_37418-Loss","entity_type":"region"},{"created":"2020-12-02T18:06:10.323349+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA_37418-Loss was added\nRegion: ISCA_37418-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA_37418-Loss.\nMode of inheritance for Region: ISCA_37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA_37418-Loss were set to Smith-Magenis syndrome, MIM#\t182290; intellectual disability; dysmorphic features; behavioural issues\nReview for Region: ISCA_37418-Loss was set to GREEN\nAdded comment: Well established CNV, features of SMS due to RAI1 deletion. \nSources: Expert list","entity_name":"ISCA_37418-Loss","entity_type":"region"},{"created":"2020-12-02T15:17:10.502494+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37418-Gain as ready","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2020-12-02T15:17:10.491641+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37418-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2020-12-02T15:17:06.074991+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37418-Gain as Green List (high evidence)","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2020-12-02T15:17:06.067476+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37418-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2020-12-02T15:16:58.587432+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37418-Gain was added\nRegion: ISCA-37418-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM#\t610883; intellectual disability; hypotonia; congenital anomalies\nReview for Region: ISCA-37418-Gain was set to GREEN\nAdded comment: Well established CNV. Reciprocal duplication of the 17p11.2 deletion causing Smith-Magenis syndrome. \nSources: Expert list","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2020-12-02T15:04:08.811761+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.559","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TARS2 were set to 24827421; 26811336","entity_name":"TARS2","entity_type":"gene"},{"created":"2020-12-02T15:03:28.350051+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5504","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TARS2 were set to 24827421; 26811336","entity_name":"TARS2","entity_type":"gene"},{"created":"2020-12-02T15:03:08.709602+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5503","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TARS2: Added comment: Second family reported, single affected individual, compound heterozygous missense variants, computational data only in support of pathogenicity.; Changed publications: 24827421, 26811336, 33153448","entity_name":"TARS2","entity_type":"gene"},{"created":"2020-12-02T15:02:21.378766+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TARS2: Added comment: Second family reported, single affected individual, compound het missense variants, computational data only in support of pathogenicity.; Changed publications: 24827421, 26811336, 33153448","entity_name":"TARS2","entity_type":"gene"},{"created":"2020-12-02T12:30:38.370587+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AVP as ready","entity_name":"AVP","entity_type":"gene"},{"created":"2020-12-02T12:30:38.357470+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: avp has been classified as Green List (High Evidence).","entity_name":"AVP","entity_type":"gene"},{"created":"2020-12-02T12:30:33.154578+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AVP as Green List (high evidence)","entity_name":"AVP","entity_type":"gene"},{"created":"2020-12-02T12:30:33.145788+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: avp has been classified as Green List (High Evidence).","entity_name":"AVP","entity_type":"gene"},{"created":"2020-12-02T12:30:25.549474+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AVP was added\ngene: AVP was added to Diabetes Insipidus. Sources: Expert list\nMode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AVP were set to 6526016; 1840604; 8554046\nPhenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700\nReview for gene: AVP was set to GREEN\ngene: AVP was marked as current diagnostic\nAdded comment: Well-established cause of neurohypophyseal diabetes insipidus, and supporting rat model. \nSources: Expert list","entity_name":"AVP","entity_type":"gene"},{"created":"2020-12-02T12:24:36.476051+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AQP2 as ready","entity_name":"AQP2","entity_type":"gene"},{"created":"2020-12-02T12:24:36.463301+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aqp2 has been classified as Green List (High Evidence).","entity_name":"AQP2","entity_type":"gene"},{"created":"2020-12-02T12:24:32.198551+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AQP2 as Green List (high evidence)","entity_name":"AQP2","entity_type":"gene"},{"created":"2020-12-02T12:24:32.190567+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aqp2 has been classified as Green List (High Evidence).","entity_name":"AQP2","entity_type":"gene"},{"created":"2020-12-02T12:24:22.909157+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AQP2 was added\ngene: AQP2 was added to Diabetes Insipidus. Sources: Expert list\nMode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AQP2 were set to 7524315; 20301356; 27156763; 9649557\nPhenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800\nReview for gene: AQP2 was set to GREEN\ngene: AQP2 was marked as current diagnostic\nAdded comment: Well-established cause of nephrogenic diabetes insipidus. Loss of function is the mechanism of disease for the recessive form, while the dominantly inherited form is caused by pathogenic variants with a dominant negative effect. \nSources: Expert list","entity_name":"AQP2","entity_type":"gene"},{"created":"2020-12-02T11:52:45.138792+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AVPR2 as Green List (high evidence)","entity_name":"AVPR2","entity_type":"gene"},{"created":"2020-12-02T11:52:45.128153+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: avpr2 has been classified as Green List (High Evidence).","entity_name":"AVPR2","entity_type":"gene"},{"created":"2020-12-02T11:30:28.641809+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AVPR2 was added\ngene: AVPR2 was added to Diabetes Insipidus. Sources: Expert list\nSV/CNV tags were added to gene: AVPR2.\nMode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AVPR2 were set to 1356229; 20301356; 27156763\nPhenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic MIM#304800\nReview for gene: AVPR2 was set to GREEN\ngene: AVPR2 was marked as current diagnostic\nAdded comment: Well-established cause of nephrogenic diabetes insipidus (most common cause). ~10% of disease-causing variants are large deletions. females are unlikely to be affected, but heterozygous females can exhibit variable degrees of polyuria and polydipsia because of skewed X chromosome inactivation \nSources: Expert list","entity_name":"AVPR2","entity_type":"gene"},{"created":"2020-12-02T11:15:56.401996+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.66","user_name":"Shannon LeBlanc","item_type":"entity","text":"gene: POLG2 was added\ngene: POLG2 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POLG2 were set to PMID: 21555342; 16685652\nPhenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type) - 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 - 610131\nReview for gene: POLG2 was set to GREEN\nAdded comment: PEOA4 - age of onset range from infancy to adulthood. \nSources: Literature","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-12-02T11:08:17.605101+11:00","panel_name":"Diabetes Insipidus","panel_id":3445,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added Panel Diabetes Insipidus\nSet panel types to: Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-12-02T11:05:56.800519+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.66","user_name":"Shannon LeBlanc","item_type":"entity","text":"gene: RRM2B was added\ngene: RRM2B was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RRM2B were set to PMID: 17486094; 19138848; 24741716; 31462754\nPhenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) - 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) - 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 - 613077\nReview for gene: RRM2B was set to GREEN\nAdded comment: Neonatal onset. Ophthalmoplegia and ptosis are common features. \nSources: Literature","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-12-02T10:59:17.192628+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.66","user_name":"Shannon LeBlanc","item_type":"entity","text":"gene: DGUOK was added\ngene: DGUOK was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DGUOK were set to PMID: 11687800; 12205643; 15887277\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM 617070; portal hypertension, non cirrhotic OMIM 617068\nReview for gene: DGUOK was set to GREEN\nAdded comment: Mitochondrial DNA depletion syndrome-3: onset in infancy, progressive external ophthalmoplegia is a feature. \nSources: Literature","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-12-02T10:48:37.220910+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.66","user_name":"Shannon LeBlanc","item_type":"entity","text":"gene: MYF5 was added\ngene: MYF5 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYF5 were set to PMID: 29887215\nPhenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855\nReview for gene: MYF5 was set to GREEN\nAdded comment: congenital non-progressive external ophthalmoplegia and ptosis. Other features include hypoplastic or missing ribs with fusion anomalies. Torticollis and scoliosis develops during childhood.\r\n\r\nPMID 29887215: three unrelated consanguineous families with homozygous LOF mutations: Two Turkish families with a homozygous 10bp deletion (frameshift), predicted to undergo NMD. Two sisters from a Yemeni family with a homozygous missense variant in exon 1 - in vitro assays showed LOF for the missense variant. \r\n\r\nThe clinical phenotype overlaps strikingly with several MYF5 knockout mouse models. (PMID: 15386014, 1423602, 9268580, 8918877). \nSources: Literature","entity_name":"MYF5","entity_type":"gene"},{"created":"2020-12-02T08:50:46.825916+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.75","user_name":"Elena Savva","item_type":"entity","text":"Region: ISCA-37441-Loss was added\nRegion: ISCA-37441-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37441-Loss were set to PMID: 20140962\nPhenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224\nReview for Region: ISCA-37441-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nCraniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina \nSources: Expert list","entity_name":"ISCA-37441-Loss","entity_type":"region"},{"created":"2020-12-02T08:48:19.580731+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.75","user_name":"Elena Savva","item_type":"entity","text":"Region: ISCA-37440-Loss was added\nRegion: ISCA-37440-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250\nPhenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome\nReview for Region: ISCA-37440-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nIncludes the deletion of SLC3A1, PREPL, C2orf34 and PPM1B\r\n\r\nHypotonia-cystinuria syndrome is the deletion of only SLC3A1 and PREPL \nSources: Expert list","entity_name":"ISCA-37440-Loss","entity_type":"region"},{"created":"2020-12-02T08:36:59.253015+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.75","user_name":"Elena Savva","item_type":"entity","text":"Region: ISCA-37439-Gain was added\nRegion: ISCA-37439-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37439-Gain 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 Region: ISCA-37439-Gain were set to PMID: 20004760\nPhenotypes for Region: ISCA-37439-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815\nReview for Region: ISCA-37439-Gain was set to GREEN\nAdded comment: Established CNV\r\n\r\n3 mothers, who were more mildly affected with learning difficulties, also carried the duplication with non-random X inactivation.\r\n\r\nCauses mental retardation, both syndromic and non syndromic \nSources: Expert list","entity_name":"ISCA-37439-Gain","entity_type":"region"},{"created":"2020-12-02T08:29:21.951114+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.75","user_name":"Elena Savva","item_type":"entity","text":"Region: ISCA-37436-Loss was added\nRegion: ISCA-37436-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37436-Loss were set to PMID: 32356557; 31118906; 24726093\nPhenotypes for Region: ISCA-37436-Loss were set to Hereditary neuropathy with liability to pressure palsies\nReview for Region: ISCA-37436-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nDeletion of PMP22 the main cause of disease, which may include psychiatric conditions\r\n\r\nThickening of the myelin sheath, called “tomacula”, is considered the hallmark of the disease \nSources: Expert list","entity_name":"ISCA-37436-Loss","entity_type":"region"},{"created":"2020-12-02T08:20:41.220374+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.75","user_name":"Elena Savva","item_type":"entity","text":"Region: ISCA-37436-Gain was added\nRegion: ISCA-37436-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37436-Gain were set to PMID: 32648354\nPhenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A\nReview for Region: ISCA-37436-Gain was set to GREEN\nAdded comment: It is suspected that de novo CMT1A cases tend to exhibit relatively mild symptoms compared to non‐de novo cases \nSources: Expert list","entity_name":"ISCA-37436-Gain","entity_type":"region"}]}