This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
Gene: INPP5E
INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- KidGen_CilioNephronop v38.1.0
- OMIM
- 613037
- Clinvar variants
- Variants in INPP5E
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Ophthalmological ciliopathies
- Differences in sex development
- Cystic kidney disease
- Renal ciliopathies
- Ocular coloboma
- Intellectual disability
- Severe early-onset obesity
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Neurological ciliopathies
- Limb disorders
- Structural eye disease
- Fetal anomalies
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: INPP5E was added gene: INPP5E was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green Mode of inheritance for gene: INPP5E was set to Unknown