Skeletal dysplasia
Gene: CSPP1
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 LesterCreated: 6 Mar 2019, 11:44 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
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CSPP1; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Gene added to this panel as green on the Thoracic dystrophies panelCreated: 5 Jun 2017, 1:03 p.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
Added phenotypes ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; ORPHA:475 Joubert syndrome; ORPHA:564 Meckel syndrome; Joubert syndrome 21 615636 for gene: CSPP1 Publications for gene CSPP1 were changed from to 24360808; 24360803
Source NHS GMS was added to CSPP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
CSPP1 was added to Unexplained skeletal dysplasiapanel. Sources: Other
CSPP1 was created by arianna