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  2. Thoracic dystrophies
  3. CSPP1
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Thoracic dystrophies

Gene: CSPP1

Green List (high evidence)
CSPP1 (centrosome and spindle pole associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104218
EnsemblGeneIds (GRCh37): ENSG00000104218
OMIM: 611654, Gene2Phenotype
CSPP1 is in 15 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two green reviews, and >3 families/cases reported. Is green on the Rare multisystem ciliopathy disorders Version 1.26 panel.
Created: 26 May 2017, 10:39 a.m.
Created: 26 May 2017, 10:39 a.m.

Panel version: 0.50

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
JATD/JBTS

Created: 26 May 2017, 8:01 a.m.

Panel version: 0.35

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
JATD/JBTS

Created: 25 May 2017, 9:24 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 21 615636
  • ORPHA:475 Joubert syndrome
  • ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
  • ORPHA:564 Meckel syndrome
OMIM
611654
Clinvar variants
Variants in CSPP1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CSPP1 were set to Joubert syndrome 21 615636;ORPHA:475 Joubert syndrome;ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy;ORPHA:564 Meckel syndrome

26 May 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CSPP1 was changed to BIALLELIC, autosomal or pseudoautosomal

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 May 2017, Gel status: 0

Created

Hannah Mitchison (UCL and GOSH)

CSPP1 was created by hmitchis

25 May 2017, Gel status: 0

Added New Source

Hannah Mitchison (UCL and GOSH)

CSPP1 was added to Thoracic dystrophiespanel. Sources: Expert Review