1. Panels
  2. Familial Neural Tube Defects

Familial Neural Tube Defects (Version 1.11)


Panel types: Rare Disease 100K
Previous code: 57e3df7e8f62034b82c0d332
Description
This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

-----


There is currently no eligibility statement for this disorder. 

It was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. 

Note: Although this panel has no green entities it is appropriate to apply it to research-focused cohorts
Panel Activity

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

44 Entities

4 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Red List (low evidence)
B9D1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
Tags
Red List (low evidence)
B9D2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Red List (low evidence)
CC2D2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
CCL2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Susceptibility to spina bifida
Tags
Red List (low evidence)
CDON
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly
Tags
Red List (low evidence)
CEP290
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
DLL3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spondylocostal dysostosis 1
  • Spondylocostal Dysostosis
Tags
Red List (low evidence)
FOXH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Tags
Red List (low evidence)
FUZ
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects
Tags
Red List (low evidence)
GATA3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Sensorineural deafness, renal dysplasia, hypoparathyroidism
Tags
Red List (low evidence)
GDF3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome
Tags
Red List (low evidence)
GDF6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome
  • Klippel-Feil Syndrome
Tags
Red List (low evidence)
GLI2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Tags
Red List (low evidence)
HES7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spondylocostal dysostosis 4
  • Spondylocostal Dysostosis
Tags
Red List (low evidence)
HYLS1
0 reviews
 Not set
Sources
  • UKGTN
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
KCNJ10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Seizures, sensorineural deafness, ataxia, mental retardation
Tags
Red List (low evidence)
KIF14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel syndrome 12, OMIM:616258
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Tags
Red List (low evidence)
LFNG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spondylocostal dysostosis
  • Spondylocostal Dysostosis
Tags
Red List (low evidence)
MEOX1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome
Tags
Red List (low evidence)
MESP2
0 reviews
 Not set
Sources
  • UKGTN
Phenotypes
  • Spondylocostal Dysostosis
Tags
Red List (low evidence)
MKS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
MTHFD1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Susceptibility to spina bifida
Tags
Red List (low evidence)
MTHFR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Susceptibility to neural tube defects
  • Neural tube defects,folate sensitive,susceptibility to
Tags
Red List (low evidence)
MTR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects,folate sensitive,susceptibility to
Tags
Red List (low evidence)
MTRR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects,folate sensitive,susceptibility to
Tags
Red List (low evidence)
NODAL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Tags
Red List (low evidence)
NPHP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
PIK3CA
0 reviews
 Not set
Sources
  • Other
  • UKGTN
Phenotypes
  • Clove Syndrome
  • Cloves syndrome
Tags
Red List (low evidence)
PTCH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Tags
Red List (low evidence)
PTK7
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects
Tags
Red List (low evidence)
RPGRIP1L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
SHROOM3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects
Tags
Red List (low evidence)
T
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Susceptibility to neural tube defects
Tags
  • new-gene-name
Red List (low evidence)
TBX6
0 reviews
 Not set
Sources
  • UKGTN
Phenotypes
  • Spondylocostal Dysostosis
Tags
Red List (low evidence)
TCTN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
TGIF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Tags
Red List (low evidence)
TMEM216
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
TMEM231
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
TMEM5
1 review
 Not set
Sources
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy
Tags
  • new-gene-name
Red List (low evidence)
TMEM67
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Tags
Red List (low evidence)
VANGL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Susceptibility to neural tube defects
  • Neural tube defects
Tags
Red List (low evidence)
VANGL2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects
Tags
Red List (low evidence)
ZIC2
0 reviews
 Not set
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holoprosencephaly 5
  • Holoprosencephaly
Tags
No list
HPE1
2 reviews
 Not set
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Holoprosencephaly
Tags
  • curated_removed
  • ensembl_ids_known_missing
  • locus-type-phenotype-only

Major version comments

  • 25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

Download Version