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Common craniosynostosis syndromes v1.3 Eleanor Williams Panel version has been signed off
Common craniosynostosis syndromes v1.0 Eleanor Williams promoted panel to version 1.0
Common craniosynostosis syndromes v0.15 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Common craniosynostosis syndromes v0.14 Eleanor Williams List of related panels changed from to R99
Common craniosynostosis syndromes v0.12 FGFR3 Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Tracy Lester on Craniosynostosis panel - specific GOF variants in ex7 & 10 only
Common craniosynostosis syndromes v0.12 FGFR3 Eleanor Williams Mode of pathogenicity for gene: FGFR3 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
Common craniosynostosis syndromes v0.11 FGFR2 Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - Gain-of-function missense mutations are associated with a range of classical craniosynostosis phenotypes
Common craniosynostosis syndromes v0.11 FGFR2 Eleanor Williams Mode of pathogenicity for gene: FGFR2 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
Common craniosynostosis syndromes v0.10 EFNB1 Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - rare example of cellular interference
Common craniosynostosis syndromes v0.10 EFNB1 Eleanor Williams Mode of pathogenicity for gene: EFNB1 was changed from to Other
Common craniosynostosis syndromes v0.9 FGFR1 Eleanor Williams Added comment: Comment on mode of pathogenicity: From reviews on the Craniosynostosis panel - a very limited number of gain of function mutations are associated with craniosynostosis
Common craniosynostosis syndromes v0.9 FGFR1 Eleanor Williams Mode of pathogenicity for gene: FGFR1 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
Common craniosynostosis syndromes v0.8 FGFR3 Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team
Common craniosynostosis syndromes v0.8 FGFR3 Eleanor Williams Phenotypes for gene: FGFR3 were changed from to Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601
Common craniosynostosis syndromes v0.7 FGFR2 Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team
Common craniosynostosis syndromes v0.7 FGFR2 Eleanor Williams Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Common craniosynostosis syndromes v0.6 FGFR2 Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team
Common craniosynostosis syndromes v0.6 FGFR2 Eleanor Williams Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Common craniosynostosis syndromes v0.5 FGFR1 Eleanor Williams Phenotypes for gene: FGFR1 were changed from to Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome
Common craniosynostosis syndromes v0.4 TWIST1 Eleanor Williams Phenotypes for gene: TWIST1 were changed from to Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400
Common craniosynostosis syndromes v0.3 TWIST1 Eleanor Williams reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 TCF12 Eleanor Williams reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 FGFR3 Eleanor Williams reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 FGFR2 Eleanor Williams reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 FGFR1 Eleanor Williams reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 ERF Eleanor Williams reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 EFNB1 Eleanor Williams reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.2 TWIST1 Eleanor Williams gene: TWIST1 was added
gene: TWIST1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Common craniosynostosis syndromes v0.2 TCF12 Eleanor Williams gene: TCF12 was added
gene: TCF12 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF12 were set to Craniosynostosis 3 615314
Common craniosynostosis syndromes v0.2 FGFR3 Eleanor Williams gene: FGFR3 was added
gene: FGFR3 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Common craniosynostosis syndromes v0.2 FGFR2 Eleanor Williams gene: FGFR2 was added
gene: FGFR2 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Common craniosynostosis syndromes v0.2 FGFR1 Eleanor Williams gene: FGFR1 was added
gene: FGFR1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Common craniosynostosis syndromes v0.2 ERF Eleanor Williams gene: ERF was added
gene: ERF was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ERF were set to Chitayat syndrome 617180; Craniosynostosis 4 600775
Common craniosynostosis syndromes v0.2 EFNB1 Eleanor Williams gene: EFNB1 was added
gene: EFNB1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia 304110
Common craniosynostosis syndromes v0.0 Ellen McDonagh Added Panel Common craniosynostosis syndromes
Set panel types to: GMS Rare Disease