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Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 AKT2 Catherine Snow Classified gene: AKT2 as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 AKT2 Catherine Snow Gene: akt2 has been classified as Green List (High Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.93 AKT2 Catherine Snow gene: AKT2 was added
gene: AKT2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert Review
missense tags were added to gene: AKT2.
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT2 were set to 28502730
Phenotypes for gene: AKT2 were set to Segmental overgrowth disorders
Added comment: Comment on list classification: After consultation with Genomics England clinical team who identified AKT2 in the review paper PMID:28502730 – "4 cases summarised, they all have the same missense variant, and I can’t see if any work has been done re mechanism e.g. gain of function". Advised rating as Green, although admitted "it would be borderline as a mosaic disorder and a single variant".
Sources: Expert Review
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 HIST1H1E Louise Daugherty commented on gene: HIST1H1E: Added new-gene-name tag, new approved HGNC gene symbol for HIST1H1E is H1-4
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 MTOR Louise Daugherty Mode of inheritance for gene: MTOR was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.90 KCNQ1OT1 Louise Daugherty commented on gene: KCNQ1OT1: from OMIM : In 2 related individuals with Beckwith-Wiedemann syndrome, Niemitz et al. (2004) described 1 case where the deletion was maternally inherited; in the other, it was paternally inherited. In the case of maternal inheritance, the deletion caused BWS with silencing of p57(KIP2) (CDKN1C; 600856), indicating that an element important for the regulation of p57(KIP2) expression had been deleted. When inherited paternally, there was no BWS phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans.
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.90 HERC1 Louise Daugherty commented on gene: HERC1: Review and Amber rating from Kate Tatton-Brown April 2017: Limited evidence currently that an overgrowth gene although may be very rare contributor to overgrowth
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.90 OFD1 Louise Daugherty reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.90 OFD1 Louise Daugherty Publications for gene: OFD1 were set to PMID: 23036093
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 HIST1H1E Louise Daugherty edited their review of gene: HIST1H1E: Added comment: Review and Green rating from Kate Tatton-Brown April 2017 ; Paper in press with AJHG but we only have five cases currently. We need to ascertain more cases before we can say that the gene is an overgrowth gene. We wil be reporting variants in clinical practice soon; Changed rating: AMBER
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 PPP2R5D Louise Daugherty edited their review of gene: PPP2R5D: Added comment: Review and Amber rating from Kate Tatton-Brown April 2017: Few cases at the moment to be certain about the phenotype; Changed rating: AMBER
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 KCNQ1OT1 Louise Daugherty Classified gene: KCNQ1OT1 as Amber List (moderate evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 KCNQ1OT1 Louise Daugherty Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.88 KCNQ1OT1 Louise Daugherty Phenotypes for gene: KCNQ1OT1 were changed from Beckwith-Wiedemann Syndrome to Beckwith-Wiedemann Syndrome, 130650
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.87 KCNQ1OT1 Louise Daugherty Mode of inheritance for gene: KCNQ1OT1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.86 KCNQ1OT1 Louise Daugherty Classified gene: KCNQ1OT1 as Amber List (moderate evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.86 KCNQ1OT1 Louise Daugherty Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.85 MTOR Louise Daugherty Publications for gene: MTOR were set to 28475857
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.84 AKT3 Louise Daugherty Publications for gene: AKT3 were set to 28475857
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.83 AKT3 Louise Daugherty Classified gene: AKT3 as Amber List (moderate evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.83 AKT3 Louise Daugherty Gene: akt3 has been classified as Amber List (Moderate Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.82 AKT3 Louise Daugherty edited their review of gene: AKT3: Changed rating: AMBER
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.82 AKT3 Louise Daugherty gene: AKT3 was added
gene: AKT3 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list
Mode of inheritance for gene: AKT3 was set to Other
Publications for gene: AKT3 were set to 28475857
Phenotypes for gene: AKT3 were set to Human overgrowth syndrome type; Overgrowth with Intellectual disability
Review for gene: AKT3 was set to GREEN
Added comment: Review and Green rating from Kate Tatton-Brown April 2017; Paper in press with AJHG. Likely activating mutations
Sources: Expert list
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.81 MTOR Louise Daugherty Classified gene: MTOR as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.81 MTOR Louise Daugherty Gene: mtor has been classified as Green List (High Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.80 MTOR Louise Daugherty gene: MTOR was added
gene: MTOR was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list
Mode of inheritance for gene: MTOR was set to Other
Publications for gene: MTOR were set to 28475857
Phenotypes for gene: MTOR were set to Overgrowth with Intellectual disability; Human overgrowth syndrome type
Review for gene: MTOR was set to GREEN
Added comment: Review and Green rating from Kate Tatton-Brown April 2017; Paper in press with AJHG. Activating mutations. We wil be reporting variants in clinical practice soon
Sources: Expert list
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.79 PIK3CA Louise Daugherty Classified gene: PIK3CA as Amber List (moderate evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.79 PIK3CA Louise Daugherty Gene: pik3ca has been classified as Amber List (Moderate Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.78 H19 Louise Daugherty Classified gene: H19 as Amber List (moderate evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.78 H19 Louise Daugherty Gene: h19 has been classified as Amber List (Moderate Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.77 H19 Louise Daugherty Mode of inheritance for gene: H19 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.76 PIK3CA Louise Daugherty Publications for gene: PIK3CA were set to 28475857
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.75 PIK3CA Louise Daugherty Publications for gene: PIK3CA were set to
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.74 PIK3CA Louise Daugherty Phenotypes for gene: PIK3CA were changed from Human overgrowth syndrome type to Human overgrowth syndrome type; Overgrowth with Intellectual disability
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.73 PIK3CA Louise Daugherty Mode of inheritance for gene: PIK3CA was changed from Unknown to Other
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.72 PIK3CA Louise Daugherty edited their review of gene: PIK3CA: Added comment: Review and Green rating from Kate Tatton-Brown April 2017: Activating mutations. We wil be reporting variants in clinical practice soon; Changed rating: GREEN
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.72 IGF2 Louise Daugherty Publications for gene: IGF2 were set to PMID: 17325026
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.71 KCNQ1OT1 Louise Daugherty reviewed gene: KCNQ1OT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.71 KCNQ1OT1 Louise Daugherty Publications for gene: KCNQ1OT1 were set to PMID: 12949703
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.70 IGF2 Louise Daugherty reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.70 H19 Louise Daugherty Mode of inheritance for gene: H19 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.69 H19 Louise Daugherty Publications for gene: H19 were set to PMID: 18836444
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.68 H19 Louise Daugherty edited their review of gene: H19: Changed mode of pathogenicity: Other
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.68 H19 Louise Daugherty reviewed gene: H19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.68 CDKN1C Louise Daugherty Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome; OMIM 130650; IMAGE syndrome, 614732 to Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.67 CDKN1C Louise Daugherty Publications for gene: CDKN1C were set to 20803657; 8841187; 20301568; 22585446; 26077438; 9341892; 26077438; 11414765; 10424811
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.66 CDKN1C Louise Daugherty Publications for gene: CDKN1C were set to PMID: 20803657; 8841187; 20301568; 22585446; 26077438; 9341892; 26077438; 11414765; 10424811
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.65 CDKN1C Louise Daugherty edited their review of gene: CDKN1C: Added comment: Review and Green rating from Kate Tatton-Brown April 2017: Note the mutations that cause Beckwith are different from the clustered CDKN1C mutations that cause IMAGe syndrome; Changed publications: 20301568, 22585446, 26077438, 9341892, 26077438, 11414765, 10424811, 9311733
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.65 PTEN Louise Daugherty Phenotypes for gene: PTEN were changed from Overgrowth with Intellectual disability Human overgrowth syndrome type to Overgrowth with Intellectual disability; Human overgrowth syndrome type
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.64 PTEN Louise Daugherty Classified gene: PTEN as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.64 PTEN Louise Daugherty Gene: pten has been classified as Green List (High Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.63 PTEN Louise Daugherty Publications for gene: PTEN were set to
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.62 PTEN Louise Daugherty Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.61 PTEN Louise Daugherty Phenotypes for gene: PTEN were changed from Human overgrowth syndrome type to Overgrowth with Intellectual disability Human overgrowth syndrome type
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.60 PTEN Louise Daugherty edited their review of gene: PTEN: Added comment: Review and Green rating from Kate Tatton-Brown April 2017; Changed rating: GREEN
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.60 EED Louise Daugherty Phenotypes for gene: EED were changed from Cohen-Gibson syndrome 617561 to Cohen-Gibson syndrome, 617561; Human overgrowth syndrome type; Overgrowth with Intellectual disability
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.59 EED Louise Daugherty Publications for gene: EED were set to 25787343; 27193220; 27868325; 28229514
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.58 EED Louise Daugherty edited their review of gene: EED: Added comment: Review and Green rating from Kate Tatton-Brown April 2017. Paper in press with AJHG. Also 28229514, 25787343, 27193220, 27868325. We wil be reporting variants in clinical practice soon; Changed rating: GREEN
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.58 BRWD3 Louise Daugherty Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, 300659; macrocephaly to Mental retardation, X-linked 93, 300659; macrocephaly; intellectual disability
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.57 BRWD3 Louise Daugherty Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93 300659 to Mental retardation, X-linked 93, 300659; macrocephaly
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.56 BRWD3 Louise Daugherty Publications for gene: BRWD3 were set to
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.55 BRWD3 Louise Daugherty edited their review of gene: BRWD3: Added comment: Review and Green rating from Kate Tatton-Brown April 2017. The paper is in press with American Journal of Human Genetics. Mutations in BRWD3 cause macrocephaly rather than overgrowth per se. We wil be reporting variants in clinical practice soon; Changed rating: GREEN
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.55 CHD8 Louise Daugherty Classified gene: CHD8 as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.55 CHD8 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green due to expert external review
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.55 CHD8 Louise Daugherty Gene: chd8 has been classified as Green List (High Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.54 CHD8 Louise Daugherty Phenotypes for gene: CHD8 were changed from Overgrowth with Intellectual disability; Human overgrowth syndrome type to {Autism, susceptibility to, 18}, 615032; Overgrowth with Intellectual disability; Human overgrowth syndrome type
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.53 CHD8 Louise Daugherty Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18}, 615032; Human overgrowth syndrome type to Overgrowth with Intellectual disability; Human overgrowth syndrome type
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.52 CHD8 Louise Daugherty Publications for gene: CHD8 were set to
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.51 CHD8 Louise Daugherty edited their review of gene: CHD8: Added comment: Review and Green rating from Kate Tatton-Brown April 2017. Paper in press with AJHG. We wil be reporting variants in clinical practice soon.; Changed rating: GREEN
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.51 CHD8 Louise Daugherty Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.50 GPC3 Louise Daugherty reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.50 GPC3 Louise Daugherty Publications for gene: GPC3 were set to PMID: 8589713
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.49 NFIX Louise Daugherty reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.49 DNMT3A Louise Daugherty edited their review of gene: DNMT3A: Added comment: Review and Green rating from Kate Tatton-Brown April 2017: mutations can be difficult to interpret because of clonal haematopoiesis: mechanism of pathogenesis not currently understood- LOF?; Changed publications: 24614070, 26866722, 27701732, 20301652
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.49 NFIX Louise Daugherty Publications for gene: NFIX were set to PMID: 25118028
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.48 NSD1 Louise Daugherty Publications for gene: NSD1 were set to PMID: 23592277
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.47 NSD1 Louise Daugherty Added comment: Comment on publications: 14997421 removed not relevant
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.47 NSD1 Louise Daugherty Publications for gene: NSD1 were set to PMID: 23592277; 14997421
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.46 NSD1 Louise Daugherty reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.46 EZH2 Louise Daugherty Publications for gene: EZH2 were set to 23592277; 22177091
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.45 EZH2 Louise Daugherty reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.45 EZH2 Louise Daugherty Publications for gene: EZH2 were set to PMID: 23592277; 22177091
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.44 NFIB Ivone Leong Classified gene: NFIB as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.44 NFIB Ivone Leong Gene: nfib has been classified as Green List (High Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.43 NFIB Ivone Leong gene: NFIB was added
gene: NFIB was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, 618286
Review for gene: NFIB was set to GREEN
Added comment: NFIB is associated with a phenotype in OMIM and probably associated with a phenotype in Gene2Phenotype.
Expert review from Konstantinos Varvagiannis: "Schanze et al. (PMID: 30388402) report on the phenotype related to NFIB haploinsufficiency. 10 individuals with intragenic NFIB or larger deletions encompassing also other genes as well as 8 individuals with nucleotide variants (5 loss-of-function and 3 missense ones) are described. Intellectual disability was a universal feature while macrocephaly was noted in the majority of the patients. The phenotype of individuals deletions was similar to the phenotype of intragenic mutations as also seems to be the case with the degree of ID. Functional studies support loss of function for the pathogenic missense variants reported. Cortical-specific knockout of Nfib in mice results in enlargement of the cortex." -- copied from "Intellectual disability" panel (code: 285).
After discussion with the clinical team, it was decided that NFIB is relevant for the " Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders" panel and there is enough evidence to support a gene-disease association. Therefore, NFIB has been given a green gene rating.
Sources: Expert list
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.42 ISCA-37425-Loss Louise Daugherty Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders DNMT3A Helen Brittain classified DNMT3A as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders BRWD3 Helen Brittain marked BRWD3 as ready
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders BRWD3 Helen Brittain classified BRWD3 as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders BRWD3 Helen Brittain reviewed BRWD3
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Louise Daugherty commented on HIST1H1E
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders ASXL2 Sarah Leigh classified ASXL2 as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders ASXL2 Sarah Leigh Added gene to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Rebecca Foulger commented on EED
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Rebecca Foulger classified HIST1H1E as green
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Rebecca Foulger edited their review of HIST1H1E
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Sarah Leigh classified EED as green
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Sarah Leigh commented on EED
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Sarah Leigh reviewed EED
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Rebecca Foulger commented on HIST1H1E
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CDKN1C Helen Brittain classified CDKN1C as green
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CDKN1C Helen Brittain reviewed CDKN1C
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HERC1 Ellen McDonagh commented on HERC1
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CDKN1C Louise Daugherty commented on CDKN1C
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PIK3CA Louise Daugherty added PIK3CA to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PIK3CA Louise Daugherty reviewed PIK3CA
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PPP2R5D Louise Daugherty added PPP2R5D to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PPP2R5D Louise Daugherty reviewed PPP2R5D
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PTEN Louise Daugherty added PTEN to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PTEN Louise Daugherty reviewed PTEN
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders BRWD3 Louise Daugherty added BRWD3 to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders BRWD3 Louise Daugherty reviewed BRWD3
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Louise Daugherty added EED to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Louise Daugherty reviewed EED
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CHD8 Louise Daugherty commented on CHD8
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CHD8 Louise Daugherty edited their review of CHD8
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CHD8 Louise Daugherty added CHD8 to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CHD8 Louise Daugherty reviewed CHD8
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HERC1 Louise Daugherty edited their review of HERC1
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Louise Daugherty commented on HIST1H1E
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Louise Daugherty added HIST1H1E to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Louise Daugherty reviewed HIST1H1E
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders DNMT3A Louise Daugherty edited their review of DNMT3A
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders DNMT3A Louise Daugherty edited their review of DNMT3A
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HERC1 Louise Daugherty added HERC1 to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HERC1 Louise Daugherty reviewed HERC1
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CDKN1C Louise Daugherty reviewed CDKN1C
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders DNMT3A Louise Daugherty added DNMT3A to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders DNMT3A Louise Daugherty reviewed DNMT3A
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders KCNQ1OT1 Ellen McDonagh commented on KCNQ1OT1
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders H19 Ellen McDonagh commented on H19