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  3. VANGL1
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Currarino triad

Gene: VANGL1

Red List (low evidence)
VANGL1 (VANGL planar cell polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000173218
EnsemblGeneIds (GRCh37): ENSG00000173218
OMIM: 610132, Gene2Phenotype
VANGL1 is in 3 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Revised rating to red to match Expert review.
Created: 3 Nov 2016, 12:22 p.m.
Created: 3 Nov 2016, 12:22 p.m.

Panel version: 0.7

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SACRAL DEFECT WITH ANTERIOR MENINGOCELE; Caudal regression syndrome; SDAM; sacral agenesis; Caudal regression syndrome,600145; Caudal Dysgenesis Syndrome

Created: 3 Nov 2016, 11:48 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • SACRAL DEFECT WITH ANTERIOR MENINGOCELE
  • Caudal regression syndrome
  • SDAM
  • sacral agenesis
  • Caudal regression syndrome,600145
  • Caudal Dysgenesis Syndrome
OMIM
610132
Clinvar variants
Variants in VANGL1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Nov 2016, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

3 November 2016: Panel review was assessed and panel was revised according to expert review and additional curation.

3 Nov 2016, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for VANGL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

24 Oct 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

VANGL1 was added to Currarino triadpanel. Source: Illumina TruGenome Clinical Sequencing Services

24 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

VANGL1 was added to Currarino triadpanel. Source: Radboud University Medical Center, Nijmegen

24 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

VANGL1 was added to Currarino triadpanel. Sources: Other

24 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

VANGL1 was created by rfoulger