Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R100 Rare syndromic craniosynostosis or isolated multisuture synostosis' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 'R100 Rare syndromic craniosynostosis or isolated multisuture synostosis'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/168/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (17/September/2019).

This panel will continue to be curated. 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 for the GMS panels.

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Tracy Lester (Genetics laboratory, Oxford UK)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Andrew Wilkie (University of Oxford)

    Group: GeCIP domain
    Workplace: Research lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

116 Entities

116 reviewed, 55 green

List Entity Reviews Mode of inheritance Details
116 Entitiess
Green Green List (high evidence)
ALPL
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • hypophosphatasia
Tags
Green Green List (high evidence)
ALX4
4 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Parietal foramina
  • Parietal foramina 2, (AD), 609597
  • Frontonasal dysplasia 2, (AR), 613451
Tags
Green Green List (high evidence)
ARSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis VI (MPS6) 253200
Tags
Green Green List (high evidence)
ASXL1
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bohring-Opitz syndrome, 605039
  • Metopic synostosis frequently associated with Bohring-Opitz syndrome
Tags
Green Green List (high evidence)
BRAF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • cardiofaciocutaneous syndrome type 115150
  • Noonan syndrome type 7 613706
Tags
Green Green List (high evidence)
CDC45
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coronal synostosis
  • Meier-Gorlin syndrome 7, 617063
Tags
Green Green List (high evidence)
COLEC11
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 265050
  • 3MC syndrome 2 265050
Tags
Green Green List (high evidence)
CTSK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pycnodysostosis 265800
  • 265800
Tags
Green Green List (high evidence)
CYP26B1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Tags
Green Green List (high evidence)
EFNB1
4 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 304110
  • Craniofrontonasal syndrome 304110
Tags
  • x-linked-over-dominance
Green Green List (high evidence)
ERF
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis 4, 600775
  • Craniosynostosis 4
Tags
Green Green List (high evidence)
FAM20C
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Raine syndrome 259775
Tags
Green Green List (high evidence)
FGFR1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Craniosynostosis
Tags
Green Green List (high evidence)
FGFR2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Crouzon syndrome, 123500
  • Jackson-Weiss syndrome, 123150
  • Beare-Stevenson cutis gyrata syndrome, 123790
  • Pfeiffer syndrome, 101600
  • Apert syndrome, 101200
  • Saethre-Chotzen
  • Craniosynostosis, nonspecific syndrome, 101400
  • Gastric cance
  • Craniosynostosis
Tags
Green Green List (high evidence)
FGFR3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Muenke syndrome
  • Crouzon syndrome with acanthosis nigricans
Tags
Green Green List (high evidence)
FLNA
4 reviews
2 green
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
  • frontometaphyseal dysplasia
  • oto-palato-digital syndromes
  • melnick-needles syndrome
Tags
Green Green List (high evidence)
GLI3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Greig cephalopolysyndactyly syndrome 175700
  • 175700
Tags
Green Green List (high evidence)
GNAS
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 103580
  • pseudohypoparathyroidism type 1a 103580
  • pseudohypoparathyroidism type 1a
Tags
Green Green List (high evidence)
GNPTAB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 252500
  • Mucolipidosis II alpha/beta(I cell disease) 252500
Tags
Green Green List (high evidence)
HUWE1
3 reviews
2 green
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
  • X-linked intellectual disability with CSS
Tags
Green Green List (high evidence)
IDS
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900
  • 309900
Tags
Green Green List (high evidence)
IDUA
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 607016
  • Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014
  • 607014
Tags
Green Green List (high evidence)
IFT122
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • cranioectodermal dysplasia
  • Cranioectodermal dysplasia type 1 218330
Tags
Green Green List (high evidence)
IHH
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 185900
  • chr2q35dup syndrome 185900
  • Acrocapitofermoral dysplasia 607778
  • bracydactyly type A1 112500
Tags
Green Green List (high evidence)
IL11RA
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis and dental anomalies, 614188
  • Craniosynostosis And Dental Anomalies
Tags
Green Green List (high evidence)
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
ISCA-37441-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Potocki-Shaffer syndrome
  • multiple exostoses
  • biparietal foramina
  • intellectual disability
  • strabismus
  • minor craniofacial anomalies
  • myopia
  • ophthalmologic anomalies
  • 601224
  • mental retardation
  • enlarged anterior fontanel
  • genital abnormalities in males
  • parietal foramina
  • developmental delay
Tags
Green Green List (high evidence)
JAG1
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Alagille syndrome
Tags
Green Green List (high evidence)
KAT6A
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mental retardation (with Craniosynostosis), 616268
Tags
Green Green List (high evidence)
KMT2D
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Kabuki syndrome 147920
  • 147920
Tags
Green Green List (high evidence)
KRAS
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • cardiofaciocutaneous syndrome type 2 615278
  • Noonan syndrome type 3 609942
  • 615278
  • 609942
Tags
Green Green List (high evidence)
MEGF8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 614976
  • Carpenter 2 614976
Tags
Green Green List (high evidence)
MSX2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis, type 2, 604757
  • Parietal foramina 1, 168500
  • Parietal foramina with cleidocranial dysplasia, 168550
  • Craniosynostosis
  • MSX2-related craniosynostosis
Tags
Green Green List (high evidence)
P4HB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cole-Carpenter syndrome 1 112240
Tags
Green Green List (high evidence)
PHEX
4 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • X-linked hypophosphataemic rickets
Tags
Green Green List (high evidence)
POR
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 201750
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Tags
Green Green List (high evidence)
PTPN11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome type 1 163950
  • leopard syndrome 151100
Tags
Green Green List (high evidence)
RAB23
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Carpenter syndrome 201000
  • 201000
Tags
Green Green List (high evidence)
RECQL4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 218600
  • Baller-Gerold syndrome 218600
Tags
Green Green List (high evidence)
RUNX2
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Craniosynostosis
  • 156510
Tags
  • gene-duplication
Green Green List (high evidence)
SKI
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Shprintzen-Goldberg syndrome 182212
  • 182212
Tags
Green Green List (high evidence)
SLC25A24
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fontaine progeroid syndrome 612289
  • Gorlin-Chaudhry-Moss
Tags
Green Green List (high evidence)
SMAD6
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • metopic synostosis
  • sagittal synostosis
  • {Craniosynostosis 7, susceptibility to} 617439
Tags
  • curated-variant-list
  • polygenic
Green Green List (high evidence)
SMO
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Curry-Jones syndrome, somatic mosaic, 601707
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
SPECC1L
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Opitz GBBB syndrome, type II 145410
Tags
Green Green List (high evidence)
STAT3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyper IgE recurrent infection syndrome 147060
  • 147060
Tags
Green Green List (high evidence)
TCF12
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis 3, 615314
  • Craniosynostosis 3
Tags
Green Green List (high evidence)
TFAP2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Char syndrome 169100
Tags
Green Green List (high evidence)
TGFBR1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Loeys-Dietz syndrome 1 609192
  • 609192
Tags
Green Green List (high evidence)
TGFBR2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 610168
  • Loeys-Dietz syndrome 2 610168
Tags
Green Green List (high evidence)
TLK2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • AD MR type 57 - 618050
Tags
Green Green List (high evidence)
TMCO1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MR syndrome
  • Cerebrofaciothoracic dysplasia/ craniofacial dysmorphism
  • skeletal anomalies
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980
Tags
Green Green List (high evidence)
TWIST1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Saethre-Chotzen syndrome, 101400
  • Saethre-Chotzen syndrome with eyelid anomalies, 101400
  • Craniosynostosis, type 1, 123100
  • Robinow-Sorauf syndrome, 180750
Tags
Green Green List (high evidence)
WDR35
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cranioectodermal dysplasia type 2 (Sensenbrenner syndrome) 613610
  • 613610
Tags
Green Green List (high evidence)
ZEB2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mowat-Wilson syndrome 235730
  • 235730
Tags
Green Green List (high evidence)
ZIC1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Craniosynostosis 6 616602
  • 616602
Tags
Amber Amber List (moderate evidence)
B3GAT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Craniosynostosis and bone fragility
Tags
Amber Amber List (moderate evidence)
ESCO2
3 reviews
1 red
Not set
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Roberts syndrome
  • SC phocomelia syndrome
Tags
Amber Amber List (moderate evidence)
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss
Region
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Koolen-de Vries/KANSL haploinsufficiency syndrome.
Tags
Amber Amber List (moderate evidence)
PPP1CB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 2 617506
Tags
Amber Amber List (moderate evidence)
PRRX1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • craniosynostosis, various combinations of sutures
Tags
Amber Amber List (moderate evidence)
SEC24D
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cole-Carpenter syndrome 2 616294
Tags
Amber Amber List (moderate evidence)
SHOC2
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Noonan-like syndrome with loose anagen hair 607721
Tags
Amber Amber List (moderate evidence)
SIX1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • sagittal synostosis, multi-suture synostosis
Tags
Red Red List (low evidence)
ABCC9
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • hypertrichotic osteochondrodysplasia, Cantu syndrome 239850
Tags
Red Red List (low evidence)
ADAMTSL4
3 reviews
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ectopia lentis 225200/225100
Tags
Red Red List (low evidence)
AHDC1
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • Xia-Gibbs syndrome 615829
Tags
Red Red List (low evidence)
ALX1
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Frontonasal dysplasia type 3
Tags
Red Red List (low evidence)
ALX3
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Frontonasal dysplasia type 1 (frontorhiny)
Tags
Red Red List (low evidence)
ATR
3 reviews
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Seckel syndrome 1 210600
Tags
Red Red List (low evidence)
AXIN2
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Oligodontia-colorectal cancer syndrome 604025
Tags
Red Red List (low evidence)
BBS9
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 9 615986
Tags
Red Red List (low evidence)
BMP4
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • orofacial cleft
  • Microphthalmia, syndromic type 6 607932
Tags
Red Red List (low evidence)
CCBE1
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Hennekam-lymphangiectasia-lymphedema syndrome 1 235510
Tags
Red Red List (low evidence)
CD96
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • C syndrome
Tags
Red Red List (low evidence)
CEP120
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • short rib thoracic dysplasia 13 +/- polydactyly
  • Joubert syndrome 31
Tags
Red Red List (low evidence)
CHST3
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations
Tags
Red Red List (low evidence)
COLEC10
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • MC syndrome 3 248340
Tags
Red Red List (low evidence)
CRTAP
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • Cole Carpenter
Tags
Red Red List (low evidence)
DHRS3
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
Phenotypes
  • coronal craniosynostosis, septal heart defects
Tags
Red Red List (low evidence)
EDNRB
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Waardenburg syndrome
  • ABCD syndrome
  • Hirschprung disease
Tags
Red Red List (low evidence)
EFNA4
3 reviews
2 red
Not set
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
FBN1
3 reviews
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Marfan syndrome
Tags
Red Red List (low evidence)
FGF3
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • congenital deafness with inner ear agenesis, microtia and microdontia
Tags
Red Red List (low evidence)
FGF9
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
FLNB
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • spondylo-carpel-tarsel dysplasia
  • Larsen syndrome (dominant)
  • atelsteogenesis type 1/3
Tags
Red Red List (low evidence)
FREM1
3 reviews
2 red
Not set
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Manitoba oculotrichoanal syndrome
  • bifid nose
  • trigonocephaly
Tags
Red Red List (low evidence)
GPC3
3 reviews
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Simpson-Golabi-Behmel syndrome
Tags
Red Red List (low evidence)
IFT140
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia with or without polydactyly
  • asphyxiating thoracic dysplasia (ATD,Jeune)
Tags
Red Red List (low evidence)
IFT43
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 18 with polydactyly 617866
  • Cranioectodermal dysplasia type 3 614099
Tags
Red Red List (low evidence)
IGF1R
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Resistance to insulin-like growth factor I
Tags
Red Red List (low evidence)
IMPAD1
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type
Tags
Red Red List (low evidence)
IRX5
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Hamamy syndrome
Tags
Red Red List (low evidence)
KANSL1
1 review
Not set
Sources
  • Expert Review Red
Phenotypes
  • Koolen-de Vries/KANSL haploinsufficiency syndrome.
Tags
Red Red List (low evidence)
KAT6B
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • KAT6B-related disorders
Tags
Red Red List (low evidence)
KDM6A
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Kabuki syndrome 2 300867
Tags
Red Red List (low evidence)
LMX1B
3 reviews
2 red
Not set
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Nail-patella syndrome - LOF
Tags
Red Red List (low evidence)
LRP5
3 reviews
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
MASP1
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • 3MC syndrome 1 257920
Tags
Red Red List (low evidence)
NFIA
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
NFIX
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • Marshall-Smith syndrome
Tags
Red Red List (low evidence)
NOG
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Tarsal-carpal coalition syndrome
  • Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome)
  • Brachydactyly type B2
  • Multiple synostosis syndrome
  • Symphalangism, proximal
Tags
Red Red List (low evidence)
OSTM1
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • AR osteopetrosis 5
Tags
Red Red List (low evidence)
PAX3
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Waardenburg syndrome
  • Craniofacial-deafness-hand syndrome
Tags
Red Red List (low evidence)
PTPRD
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
RSPRY1
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SCARF2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Van den Ende-Gupta syndrome
Tags
Red Red List (low evidence)
SCN4A
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SH3PXD2B
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Borrone dermato-cardio-skeletal syndrome
  • Frank-ter-har 249420
  • 249420
Tags
Red Red List (low evidence)
SLC3A2
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • no disorder assigned on OMIM - possible role in immune function based on mouse studies.
Tags
Red Red List (low evidence)
SOX10
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Hirschsprung disease
  • Waardenburg syndrome
  • Peripheral demyelinating neuropathy
  • central dysmyelination
Tags
Red Red List (low evidence)
SOX6
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
TCOF1
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Treacher-Collins syndrome
Tags
Red Red List (low evidence)
TICRR
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
Phenotypes
  • coronal craniosynostosis, cardiomyopathy
Tags
Red Red List (low evidence)
TWIST2
2 reviews
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Ablepharon-macrostomia syndrome
  • Barber-Say syndrome
  • Focal facial dermal dysplasia 3, Setleis type
Tags
Red Red List (low evidence)
WDR19
2 reviews
Not set
Sources
  • NHS GMS
Phenotypes
  • Cranioectodermal dysplasia type 4 614378
Tags
No list No list
KANSL1-AS1
2 reviews
Not set
Sources
  • Expert Review Removed
  • NHS GMS
Tags

Major version comments

Downloads

Download lists

Download Version