Description
This panel is used for clinical indication 'R99 Common craniosynostosis syndromes' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R99 Common craniosynostosis syndromes'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/507/?version=1.2) was signed off under NHS Genomic Medicine Service governance on 13 Feb 2020.

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

1 reviewer

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

7 Entities

7 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green Green List (high evidence)
EFNB1
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Craniofrontonasal dysplasia OMIM:304110
Tags
Green Green List (high evidence)
ERF
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Craniosynostosis 4 OMIM:600775
Tags
Green Green List (high evidence)
FGFR1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Jackson-Weiss syndrome OMIM:123150
  • Osteoglophonic dysplasia OMIM:166250
  • Pfeiffer syndrome OMIM:101600
  • Trigonocephaly 1 OMIM:190440
Tags
Green Green List (high evidence)
FGFR2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 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
Tags
Green Green List (high evidence)
FGFR3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Muenke syndrome OMIM:602849
  • Crouzon syndrome with acanthosis nigricans OMIM:612247
  • Thanatophoric dysplasia, type I OMIM:187600
  • Thanatophoric dysplasia, type II OMIM:187601
Tags
Green Green List (high evidence)
TCF12
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Craniosynostosis 3 OMIM:615314
Tags
Green Green List (high evidence)
TWIST1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Craniosynostosis 1 OMIM:123100
  • Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400
Tags

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