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Common craniosynostosis syndromes v1.13 | TWIST1 | Eleanor Williams Phenotypes for gene: TWIST1 were changed from Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400 to Craniosynostosis 1 OMIM:123100; Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common craniosynostosis syndromes v1.12 | TCF12 | Eleanor Williams Phenotypes for gene: TCF12 were changed from Craniosynostosis 3 615314 to Craniosynostosis 3 OMIM:615314 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common craniosynostosis syndromes v1.11 | FGFR3 | Eleanor Williams Phenotypes for gene: FGFR3 were changed from Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans OMIM:612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common craniosynostosis syndromes v1.10 | FGFR3 | Eleanor Williams Phenotypes for gene: FGFR3 were changed from Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common craniosynostosis syndromes v1.9 | 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 OMIM:207410; Apert syndrome OMIM:101200; Beare-Stevenson cutis gyrata syndrome OMIM:123790; Pfeiffer syndrome OMIM:101600; Craniofacial-skeletal-dermatologic dysplasia OMIM:101600; Crouzon syndrome OMIM:123500; Jackson-Weiss syndrome OMIM:123150; Saethre-Chotzen syndrome OMIM:101400; Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common craniosynostosis syndromes v1.8 | FGFR1 | Eleanor Williams Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600 to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600; Trigonocephaly 1 OMIM:190440 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common craniosynostosis syndromes v1.7 | FGFR1 | Eleanor Williams Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common craniosynostosis syndromes v1.6 | ERF | Eleanor Williams Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4 OMIM:600775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common craniosynostosis syndromes v1.5 | ERF | Eleanor Williams Phenotypes for gene: ERF were changed from Chitayat syndrome 617180; Craniosynostosis 4 600775 to Craniosynostosis 4 600775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common craniosynostosis syndromes v1.4 | EFNB1 | Eleanor Williams Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia 304110 to Craniofrontonasal dysplasia OMIM:304110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Common craniosynostosis syndromes v0.0 |
Ellen McDonagh Added Panel Common craniosynostosis syndromes Set panel types to: GMS Rare Disease |