Description
VACTERL-like phenotypes inclusion criteria (29381) 

At least three out of the five of the following:
- Vertebral anomalies 
- Oesophageal atresia and tracheo-oesophageal fistula 
- Cardiac malformation
- Renal malformation 
- Limb defect 

VACTERL-like phenotypes exclusion criteria (29381) 
- severe developmental delay 
- epibulbar dermoid 
- pre-auricular tags 
- bilateral limb defect 

Prior genetic testing guidance (29381) 
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. 

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out. 

VACTERL-like phenotypes prior genetic testing genes (29381) 

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
- Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)
- EFTUD2 (if suggestive clinical findings, e.g. microcephaly, facial asymmetry, inner ear anomalies) 
- chromosome breakage/Fanconi studies (if suggestive clinical findings, e.g. IUGR, growth retardation, microcephaly, hypo/hyperpigmentation) 

Closing statement (29381) 
These requirements will be kept under continual review during the main programme and may be subject to change.

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Muriel Holder (Clinical Genetics, Guy's Hospital)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Damian Smedley (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

58 Entities

58 reviewed, 16 green

List Entity Reviews Mode of inheritance Details
58 Entitiess
Green Green List (high evidence)
CHD4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
  • Sifrim-Hitz-Weiss syndrome 617159
Tags
Green Green List (high evidence)
CHD7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHARGE syndrome
Tags
Green Green List (high evidence)
EFTUD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • microcephaly, facial asymmetry, inner ear anomalies
Tags
Green Green List (high evidence)
FANCB
2 reviews
1 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
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • VACTERL Association with Hydrocephalus
Tags
Green Green List (high evidence)
FGF10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
HAAO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green Green List (high evidence)
HOXA13
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • 140000
Tags
Green Green List (high evidence)
KYNU
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
  • ?Hydroxykynureninuria, 236800
  • multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green Green List (high evidence)
MYCN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
PUF60
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Verheij syndrome, 615583
  • VRJS
  • Chromosome 8q24.3 deletion syndrome
  • PUF60 syndrome
Tags
  • microdeletion
Green Green List (high evidence)
SALL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
SALL4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
TBX3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
TBX5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
TRAP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • VACTERL
  • CAKUT
Tags
Green Green List (high evidence)
ZIC3
3 reviews
1 red
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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • VACTERL Association, X-linked
  • Heterotaxy, visceral, 1, X-linked 306955
Tags
Amber Amber List (moderate evidence)
MIR17HG
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Feingold syndrome
  • Feingold syndrome 2, 614326
  • FS2
  • Brachydactyly with short stature and microcephaly
Tags
  • deletions
  • locus-type-rna-long-non-coding
  • watchlist
Red Red List (low evidence)
ARHGAP31
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Skeletal dysplasias are a heterogeneous group of more than 450 disorders with complex mechanisms.
Tags
Red Red List (low evidence)
BMP2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
BMPR1B
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CC2D2A
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CDH3
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CEP290
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CHSY1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
ESCO2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
FBLN1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
FBXW4
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
FGFR2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
FGFR3
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
FMN1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GDF5
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GLI3
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GNAS
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GREM1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
HDAC4
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
HOXD13
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Synpolydactyly, type II, 186000
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
IHH
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
KIF7
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
LMBR1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
LRP4
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MGP
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MKS1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NIPBL
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NOG
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
PIGV
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
PITX1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
PTEN
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355
Tags
Red Red List (low evidence)
PTHLH
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
RECQL4
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
ROR2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
RPGRIP1L
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SHH
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SOX9
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TBX15
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
THPO
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TP63
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
WNT3
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
WNT7A
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags

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