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 'R85 Holoprosencephaly - NOT chromosomal' 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 'R85 Holoprosencephaly - NOT chromosomal'.

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

This panel is also a constituent panel of super panel 'Cerebral malformation'. Changes made to this panel will automatically be updated in the relevant super panel(s).

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 Entities

16 reviewed, 10 green

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

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