Description
Chondrodysplasia punctata eligibility statement:

Chondrodysplasia punctata inclusion criteria (29707)
- CDP reported by skeletal dysplasia expert and/or radiologist
- Radiological features of a CDP condition, as determined by skeletal dysplasia expert, after stippling would be expected to have resolved (after 2nd birthday usually), e.g. rhizomelia, remnants of vertebral body clefting, short tibiae and metacarpals
- Biochemical evidence of abnormal metabolism, i.e. VLCFA profile, abnormal cholesterol biosynthesis, abnormal arylsulphatase E

Chondrodysplasia punctata exclusion criteria (29707)
- Maternal factors excluded (i.e. Mixed connective tissue disease, Hyperemesis gravidarum, fetal exposure to warfarin)
- Radiology not consistent
- Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray) demonstrating an imbalance that explains the condition

Prior genetic testing guidance (29707)
- 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.

Chondrodysplasia punctata prior genetic testing genes (29707)
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)

Closing statement (29707)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

5 Entities

5 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green Green List (high evidence)
AGPS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3, 600121
Tags
Green Green List (high evidence)
ARSE
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive, 302950
  • X-linked recessive chondrodysplasia punctata
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Tags
Green Green List (high evidence)
EBP
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 Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant, 302960
  • X-linked dominant chondrodysplasia punctata
  • MEND syndrome
Tags
Green Green List (high evidence)
GNPAT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhizomelic Chondrodysplasia Punctata
  • Chondrodysplasia punctata, rhizomelic, type 2, 222765
  • Rhizomelic chondrodysplasia punctata type 2
Tags
Green Green List (high evidence)
PEX7
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 1, 215100
Tags

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