Ductal plate malformation

Gene: CSPP1

No list

CSPP1 (centrosome and spindle pole associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104218
EnsemblGeneIds (GRCh37): ENSG00000104218
OMIM: 611654, Gene2Phenotype
CSPP1 is in 17 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: CSPP1.

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 CSPP1. Rating Changed from Red List (low evidence) to No List (delete)

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CSPP1 was added gene: CSPP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSPP1 were set to Joubert syndrome 21 (615636)