Skeletal Dysplasia_Fetal
Gene: TRPV4

TRPV4 (transient receptor potential cation channel subfamily V member 4)
EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 10 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Associated with multiple skeletal dysplasia phenotypes presenting in fetal period.
Created: 6 Jan 2022, 2:39 a.m. | Last Modified: 6 Jan 2022, 2:39 a.m.

Panel Version: 0.1869

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brachyolmia type 3, MIM# 113500; Metatropic dysplasia, MIM# 156530; SED, Maroteaux type, MIM# 184095; Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Jan 2022, 2:39 a.m.
Last Modified: 6 Jan 2022, 2:39 a.m.
Panel version: Imported from Fetal anomalies panel version 0.1869

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

605427

Clinvar variants

Variants in TRPV4

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPV4 was added gene: TRPV4 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRPV4 was set to Unknown

Skeletal Dysplasia_Fetal Gene: TRPV4