Skeletal ciliopathies
Gene: CSPP1
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:01 p.m. | Last Modified: 30 Jan 2023, 2:01 p.m.
Panel Version: 2.5
Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating following GMS review. 3 cases reported with a skeletal phenotype.Created: 16 Dec 2021, 12:35 p.m. | Last Modified: 16 Dec 2021, 12:35 p.m.
Panel Version: 1.14
Associated with Joubert syndrome 21 #615636 (AR) in OMIM.
This gene is green on the Skeletal dysplasia panel. 3 cases reported with a Jeune asphyxiating thoracic dystrophy phenotype which includes short ribs, bell shaped chest and abnormal iliac notches.
PMID: 24360808 - Tuz et al 2014 - report 18 individuals from 14 families were shown to carry biallelic mutations in CSPP1 and had a clinical finding of Joubert syndrome (JBTS) but with a very broad spectrum of phenotypic severity. 4 individuals from 3 families had skeletal features compatible with Jeune asphyxiating thoracic dystrophy (JATD) (characterised by short ribs, bell-shaped chest, pulmonary hypoplasia, abnormal iliac notches). The variants in these 3 families were protein truncating (substitutions or frameshifts leading to early stop codons) either homozygous or compound het.
PMID: 24360803 - Shaheen et al 2014 - 3 consanguineous families (1 Saudi Arabian, 2 Schmiedeleut Hutterite Canadian familes) affected by JBTS or a syndrome similar to Meckel-Gruber syndrome (Saudi Arabian family). 2 homogzygous deletions leading to frameshifts and early stop codons were found in a three families. The 2 Hutterite families shared the same variant. Both foetuses from the Saudi Arabian family had the craniofacial feature of a single nostril, along with occipital encephalocele, hyperechogenic kidneys and eye abnormalities. The authors postulate that the variant in the Saudi family (p.Glu750Lysfs∗7) affects both the long and short transcripts of CSPP1 where as the variant found in the Hutterite families (p.His121Glnfs∗22) affects only the long. Both isoforms share similar expression profiles (expression in the brain, eyes, and kidneys) in the developing mouse embryo and both colocalize, interact, and stabilize RPGRIP1L in the transition zone.Created: 16 Dec 2021, 12:27 p.m. | Last Modified: 16 Dec 2021, 12:27 p.m.
Panel Version: 1.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 21, OMIM:615636; Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342
Publications
Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.
Sources: Expert listCreated: 24 May 2020, 10:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 21, MIM# 615636
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_21_rating was removed from gene: CSPP1.
Source Expert Review Green was added to CSPP1. Source NHS GMS was added to CSPP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cspp1 has been classified as Amber List (Moderate Evidence).
Tag Q4_21_rating tag was added to gene: CSPP1.
Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, OMIM:615636; Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342
Publications for gene: CSPP1 were set to 24360808
gene: CSPP1 was added gene: CSPP1 was added to Skeletal ciliopathies. Sources: Expert list Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSPP1 were set to 24360808 Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, MIM# 615636 Review for gene: CSPP1 was set to GREEN gene: CSPP1 was marked as current diagnostic