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  2. Structural eye disease
  3. CSPP1
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Structural eye disease

Gene: CSPP1

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

No evidence suggesting that CSPP1 is involved in structural eye anomalies, just nystagmus
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Joubert syndrome 21

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

History Filter Activity

1 Oct 2019, Gel status: 1

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CSPP1. Source Expert Review Red was added to CSPP1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to CSPP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CSPP1 was added gene: CSPP1 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636