Ductal plate malformation
Gene: INVSEnsemblGeneIds (GRCh38): ENSG00000119509
EnsemblGeneIds (GRCh37): ENSG00000119509
OMIM: 243305, Gene2Phenotype
INVS is in 15 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Nephronophthisis 2, infantile
- Tags
- OMIM
- 243305
- Clinvar variants
- Variants in INVS
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Fetal anomalies
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: INVS.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: New gene name is CPLANE
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to INVS. Rating Changed from Amber List (moderate evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: INVS was added gene: INVS was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile