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).

The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/78/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (18/October/2019).
This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (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

  • Lara Menzies (Great Ormond Street Hospital )

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

18 Entities

18 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
18 Entitiess
Green Green List (high evidence)
CDON
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly 11, 614226
  • Holoprosencephaly
Tags
Green Green List (high evidence)
DHCR7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
  • alobar holoprosencephaly (HPE)
Tags
Green Green List (high evidence)
DISP1
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Holoprosencephaly
Tags
Green Green List (high evidence)
FGF8
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Holoprosencephaly
Tags
Green Green List (high evidence)
FGFR1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hartsfield syndrome, 615465
Tags
Green Green List (high evidence)
GLI2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly-9
  • Holoprosencephaly
  • Holoprosencephaly 9, 610829
Tags
Green Green List (high evidence)
PTCH1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly-7
  • Holoprosencephaly
  • Holoprosencephaly 7, 610828
Tags
Green Green List (high evidence)
SHH
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly-3
  • Holoprosencephaly
  • Holoprosencephaly 3, 142945
Tags
Green Green List (high evidence)
SIX3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly-2
  • Holoprosencephaly
  • Holoprosencephaly 2, 157170
Tags
Green Green List (high evidence)
TGIF1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly-4
  • Holoprosencephaly
  • Holoprosencephaly 4, 142946
Tags
Green Green List (high evidence)
ZIC2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly-5
  • Holoprosencephaly
  • Holoprosencephaly 5, 609637
Tags
Amber Amber List (moderate evidence)
CNOT1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
  • pancreatic agenesis and holoprosencephaly syndrome
Tags
  • watchlist
Amber Amber List (moderate evidence)
DLL1
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Tags
  • watchlist
Amber Amber List (moderate evidence)
SUFU
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Basal cell nevus syndrome, 109400
Tags
  • watchlist
Red Red List (low evidence)
FOXH1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Holoprosencephaly
Tags
Red Red List (low evidence)
GCM2
4 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • UKGTN
Phenotypes
  • Hypoparathyroidism, familial isolated (AD)
Tags
Red Red List (low evidence)
NODAL
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Holoprosencephaly
Tags
Red Red List (low evidence)
SMAD2
3 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Unknown
Tags

Major version comments

Downloads

Download lists

Download Version