Genes in panel
Regions in panel
Prev Next

Mendeliome

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

The variant described in the original family with caudal regression was present in an unaffected parent, and is present in 17 individuals in gnomad.

Other rare variants have been postulated to be susceptibility factors for NTDs, not a Mendelian gene-disease association.
Created: 19 Mar 2022, 1:33 a.m. | Last Modified: 19 Mar 2022, 1:33 a.m.
Panel Version: 0.11567

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Caudal regression syndrome, MIM# 600145; {Neural tube defects, susceptibility to} 182940

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Caudal regression syndrome, MIM# 600145
  • {Neural tube defects, susceptibility to} 182940
OMIM
610132
Clinvar variants
Variants in VANGL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vangl1 has been classified as Red List (Low Evidence).

19 Mar 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VANGL1 were changed from to Caudal regression syndrome, MIM# 600145; {Neural tube defects, susceptibility to} 182940

19 Mar 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VANGL1 were set to

19 Mar 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VANGL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vangl1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VANGL1 was added gene: VANGL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VANGL1 was set to Unknown