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

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: Genomics England

  • 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

111 Entities

111 reviewed, 40 green

List Entity Reviews Mode of inheritance Details
111 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Parietal foramina
  • Parietal foramina 2, (AD), 609597
  • Frontonasal dysplasia 2, (AR), 613451
Tags
Green Green List (high evidence)
ASXL1
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Bohring-Opitz syndrome, 605039
  • Metopic synostosis frequently associated with Bohring-Opitz syndrome
Tags
Green Green List (high evidence)
CDC45
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 265050
Tags
Green Green List (high evidence)
CTSK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 265800
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 Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 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 Review Green
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis 4, 600775
  • Craniosynostosis 4
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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 175700
Tags
Green Green List (high evidence)
GNPTAB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 252500
Tags
Green Green List (high evidence)
IDS
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 309900
Tags
Green Green List (high evidence)
IDUA
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 607014
  • 607016
Tags
Green Green List (high evidence)
IHH
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 185900
Tags
Green Green List (high evidence)
IL11RA
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • 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)
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 Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 147920
Tags
Green Green List (high evidence)
KRAS
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 609942
  • 615278
Tags
Green Green List (high evidence)
MEGF8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 614976
Tags
Green Green List (high evidence)
MSX2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • 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)
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 Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 201750
Tags
Green Green List (high evidence)
RAB23
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 201000
Tags
Green Green List (high evidence)
RECQL4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 218600
Tags
Green Green List (high evidence)
RUNX2
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 156510
Tags
  • gene-duplication
Green Green List (high evidence)
SKI
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 182212
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)
STAT3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 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 Review Green
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis 3, 615314
  • Craniosynostosis 3
Tags
Green Green List (high evidence)
TGFBR1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 609192
Tags
Green Green List (high evidence)
TGFBR2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 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
Tags
Green Green List (high evidence)
TWIST1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 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
  • 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 Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • 616602
Tags
Red Red List (low evidence)
ABCC9
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
ADAMTSL4
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
AHDC1
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
ALX1
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
ALX3
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
ARSB
2 reviews
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
ATR
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
AXIN2
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
B3GAT3
2 reviews
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
BBS9
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
BMP4
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
BRAF
2 reviews
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CCBE1
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CD96
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CEP120
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CHST3
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
COLEC10
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CRTAP
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CYP26B1
3 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
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
Tags
Red Red List (low evidence)
EFNA4
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
ESCO2
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
FAM20C
3 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
FBN1
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
FGF3
2 reviews
1 red
Not set
Sources
  • NHS GMS
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
Tags
Red Red List (low evidence)
FREM1
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
GNAS
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Phenotypes
  • pseudohypoparathyroidism type 1a
  • 103580
Tags
Red Red List (low evidence)
GPC3
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
HUWE1
3 reviews
2 green
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
IFT122
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Phenotypes
  • cranioectodermal dysplasia
Tags
Red Red List (low evidence)
IFT140
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
IFT43
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
IGF1R
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
IMPAD1
2 reviews
Not set
Sources
  • NHS GMS
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)
JAG1
3 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
KANSL1-AS1
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
KAT6B
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
KDM6A
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
LMX1B
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
LRP5
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
MASP1
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
NFIX
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
NOG
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
OSTM1
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
P4HB
2 reviews
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
PAX3
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
PRRX1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
Phenotypes
  • craniosynostosis, various combinations of sutures
Tags
Red Red List (low evidence)
PTPN11
2 reviews
1 green
Not set
Sources
  • NHS GMS
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
Tags
Red Red List (low evidence)
SCN4A
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SEC24D
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SH3PXD2B
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • NHS GMS
Phenotypes
  • 249420
Tags
Red Red List (low evidence)
SHOC2
2 reviews
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SIX1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • NHS GMS
Phenotypes
  • sagittal synostosis, multi-suture synostosis
Tags
Red Red List (low evidence)
SLC25A24
2 reviews
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SLC3A2
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SOX10
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SOX6
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SPECC1L
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
TCOF1
2 reviews
1 red
Not set
Sources
  • NHS GMS
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)
TMCO1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
TWIST2
2 reviews
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
WDR19
2 reviews
Not set
Sources
  • NHS GMS
Tags

Major version comments

Downloads

Download lists

Download Version