Description
Holoprosencephaly eligibility statement:

Holoprosencephaly inclusion criteria (36522)
Holoprosencephaly:  one major and one minor
Major:
•	1. Holoprosencephaly
•	2. Single central incisor
Minor:
•	1. Unilateral or bilateral choanal stenosis/atresia
•	2. Ptosis
•	3. Small head circumference
•	4. Learning difficulties
•	5. Dysmorphic features
•	6. Hypopituitarism

Holoprosencephaly exclusion criteria (36522)
Chromosome rearrangement consistent with the diagnosis

Prior genetic testing guidance (36522)
- 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.

Holoprosencephaly prior genetic testing genes (36522)
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 (36522)
These requirements will be kept under continual review during the main programme and may be subject to change

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Lara Menzies (Great Ormond Street Hospital )

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

16 genes

16 reviewed, 10 green

List Gene Reviews Mode of inheritance Details
16 genes
Green Green List (high evidence)
CDON
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly 11, 614226
  • Holoprosencephaly
Green Green List (high evidence)
DISP1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly
Green Green List (high evidence)
FGF8
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly
Green Green List (high evidence)
FGFR1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hartsfield syndrome, 615465
Green Green List (high evidence)
GLI2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-9
  • Holoprosencephaly
  • Holoprosencephaly 9, 610829
Green Green List (high evidence)
PTCH1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • UKGTN
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly-7
  • Holoprosencephaly
  • Holoprosencephaly 7, 610828
Green Green List (high evidence)
SHH
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Holoprosencephaly-3
  • Holoprosencephaly
  • Holoprosencephaly 3, 142945
Green Green List (high evidence)
SIX3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-2
  • Holoprosencephaly
  • Holoprosencephaly 2, 157170
Green Green List (high evidence)
TGIF1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-4
  • Holoprosencephaly
  • Holoprosencephaly 4, 142946
Green Green List (high evidence)
ZIC2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-5
  • Holoprosencephaly
  • Holoprosencephaly 5, 609637
Amber Amber List (moderate evidence)
DLL1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Tags
  • watchlist
Amber Amber List (moderate evidence)
SUFU
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • 109400
Red Red List (low evidence)
FOXH1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Red Red List (low evidence)
GCM2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
  • UKGTN
Phenotypes
  • Hypoparathyroidism, familial isolated (AD)
Red Red List (low evidence)
NODAL
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Red Red List (low evidence)
SMAD2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Unknown

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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