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 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
  • Chitayat syndrome 617180
  • Craniosynostosis 4 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
  • Osteoglophonic dysplasia
  • Pfeiffer syndrome
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 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
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 602849
  • Crouzon syndrome with acanthosis nigricans 612247
  • Thanatophoric dysplasia, type I 187600
  • Thanatophoric dysplasia, type II 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 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 123100
  • Saethre-Chotzen syndrome with or without eyelid anomalies 101400
Tags

Major version comments

Downloads

Download lists

Download Version