Familial Neural Tube Defects (Version 1.10)

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.

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
Filter Entities 44 Entitiess
Red 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 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 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 Red List (low evidence)	CCL2	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Susceptibility to spina bifida Tags
Red 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 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 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 Red List (low evidence)	FOXH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Holoprosencephaly Tags
Red Red List (low evidence)	FUZ	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Neural tube defects Tags
Red Red List (low evidence)	GATA3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources UKGTN Phenotypes Sensorineural deafness, renal dysplasia, hypoparathyroidism Tags
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 Tags
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 Tags
Red Red List (low evidence)	GLI2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Holoprosencephaly Tags
Red 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 Red List (low evidence)	HYLS1	0 reviews	Not set	Sources UKGTN Phenotypes Meckel Syndrome Tags
Red 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 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 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 Red List (low evidence)	MEOX1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Klippel-Feil syndrome Tags
Red Red List (low evidence)	MESP2	0 reviews	Not set	Sources UKGTN Phenotypes Spondylocostal Dysostosis Tags
Red 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 Red List (low evidence)	MTHFD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Susceptibility to spina bifida Tags
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 Tags
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 Tags
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 Tags
Red Red List (low evidence)	NODAL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Holoprosencephaly Tags
Red 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 Red List (low evidence)	PIK3CA	0 reviews	Not set	Sources Other UKGTN Phenotypes Clove Syndrome Cloves syndrome Tags
Red Red List (low evidence)	PTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Holoprosencephaly Tags
Red Red List (low evidence)	PTK7	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Neural tube defects Tags
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 Tags
Red Red List (low evidence)	SHROOM3	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Neural tube defects Tags
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 Tags
Red 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 Red List (low evidence)	TGIF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Holoprosencephaly Tags
Red 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 Red List (low evidence)	TMEM231	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Meckel Syndrome Tags
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 Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Meckel Syndrome Tags
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 Tags
Red Red List (low evidence)	VANGL2	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Neural tube defects Tags
Red 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 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.

Familial Neural Tube Defects (Version 1.10)

3 reviewers

44 Entities

4 reviewed, 0 green

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