GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CSPP1

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Not listed in SD nosology paper. 4/19 cases reported by Tuz et al 2014 had features consistent with Jeune asphyxiating thoracic dystrophy with short ribs. Another severe case reported by Shaheen et al had Meckel-like phenotype. SD associated with more severe phenotype?; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 21 615636; ORPHA:475 Joubert syndrome; ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; ORPHA:564 Meckel syndrome

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
ORPHA:475 Joubert syndrome
ORPHA:564 Meckel syndrome
Joubert syndrome 21 615636

OMIM

611654

Clinvar variants

Variants in CSPP1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: CSPP1 was added gene: CSPP1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSPP1 were set to ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; ORPHA:475 Joubert syndrome; ORPHA:564 Meckel syndrome; Joubert syndrome 21 615636

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: CSPP1