Description
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. 

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 genes

4 reviewed, 0 green

List Gene Reviews Mode of inheritance Details
44 genes
Red Red List (low evidence)
B9D1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Red Red List (low evidence)
B9D2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Meckel Syndrome
Red 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
Red Red List (low evidence)
CCL2
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Susceptibility to spina bifida
Red Red List (low evidence)
CDON
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Red Red List (low evidence)
CEP290
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • UKGTN
Phenotypes
  • Meckel Syndrome
Red Red List (low evidence)
DLL3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylocostal dysostosis 1
  • Spondylocostal Dysostosis
Red Red List (low evidence)
FOXH1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Red Red List (low evidence)
FUZ
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects
Red Red List (low evidence)
GATA3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Sensorineural deafness, renal dysplasia, hypoparathyroidism
Red Red List (low evidence)
GDF3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome
Red 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
Red Red List (low evidence)
GLI2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Red Red List (low evidence)
HES7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylocostal dysostosis 4
  • Spondylocostal Dysostosis
Red Red List (low evidence)
HYLS1
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Meckel Syndrome
Red Red List (low evidence)
KCNJ10
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Seizures, sensorineural deafness, ataxia, mental retardation
Red Red List (low evidence)
KIF14
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Red Red List (low evidence)
LFNG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylocostal dysostosis
  • Spondylocostal Dysostosis
Red Red List (low evidence)
MEOX1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome
Red Red List (low evidence)
MESP2
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Spondylocostal Dysostosis
Red Red List (low evidence)
MKS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Red Red List (low evidence)
MTHFD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Susceptibility to spina bifida
Red 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
Red 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
Red 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
Red Red List (low evidence)
NODAL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Red Red List (low evidence)
NPHP3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Meckel Syndrome
Red Red List (low evidence)
PIK3CA
0 reviews
Not set
Sources
  • Other
  • UKGTN
Phenotypes
  • Clove Syndrome
  • Cloves syndrome
Red Red List (low evidence)
PTCH1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Red Red List (low evidence)
PTK7
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects
Red 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
Red Red List (low evidence)
SHROOM3
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects
Red 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 Red List (low evidence)
TBX6
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Spondylocostal Dysostosis
Red Red List (low evidence)
TCTN2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • UKGTN
Phenotypes
  • Meckel Syndrome
Red Red List (low evidence)
TGIF1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Red Red List (low evidence)
TMEM216
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Red Red List (low evidence)
TMEM231
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Red Red List (low evidence)
TMEM5
1 review
Not set
Sources
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy
Tags
  • new-gene-name
Red Red List (low evidence)
TMEM67
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Meckel Syndrome
Red 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
Red Red List (low evidence)
VANGL2
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects
Red Red List (low evidence)
ZIC2
0 reviews
Not set
Sources
  • Other
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Holoprosencephaly 5
  • Holoprosencephaly
No list No list
HPE1
2 reviews
Not set
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Holoprosencephaly
Tags
  • locus-type-phenotype-only

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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