Retinal disorders
Gene: CSPP1EnsemblGeneIds (GRCh38): ENSG00000104218
EnsemblGeneIds (GRCh37): ENSG00000104218
OMIM: 611654, Gene2Phenotype
CSPP1 is in 15 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Genetic Retinal Degeneration Conditions
- Joubert syndrome 21,615636
- OMIM
- 611654
- Clinvar variants
- Variants in CSPP1
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- DDG2P
- Ductal plate malformation
- Neurological ciliopathies
- Renal ciliopathies
- Limb disorders
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CSPP1 were changed from Genetic Retinal Degeneration Conditions; Joubert syndrome 21 to Genetic Retinal Degeneration Conditions; Joubert syndrome 21,615636
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CSPP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CSPP1 were set to Genetic Retinal Degeneration Conditions; Joubert syndrome 21
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CSPP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)CSPP1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CSPP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green