Ductal plate malformation

Gene: INPP5E

No list

INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 19 panels

0 reviews

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: INPP5E.

30 Nov 2018, Gel status: 0

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: New gene name is CPLANE

12 Nov 2018, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to INPP5E. Rating Changed from Green List (high evidence) to No List (delete)

6 Nov 2018, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: INPP5E was added gene: INPP5E was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5E were set to Joubert syndrome 1 (213300)