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  3. CSPP1
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Syndromic Retinopathy

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 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 unrelated families reported. 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.
Created: 20 Mar 2021, 12:13 a.m. | Last Modified: 20 Mar 2021, 12:14 a.m.
Panel Version: 0.6785

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 21, MIM# 615636; MONDO:0014288

Publications

Created: 20 Mar 2021, 12:13 a.m.
Last Modified: 20 Mar 2021, 12:14 a.m.
Panel version: Imported from Mendeliome panel version 0.6785

History Filter Activity

7 Feb 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CSPP1 was added gene: CSPP1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSPP1 were set to Genetic Retinal Degeneration Conditions; Joubert syndrome 21