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Mosaic skin disorders

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 16 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Only one Chinese journal published relating to ILVEN - not on pubmed
1 somatic heterozygous mutation (R698X) was identified in a 10yr old individual.
Sources: Other
Created: 3 Apr 2023, 4:30 a.m.

Mode of inheritance
Unknown

Phenotypes
Inflammatory linear verrucous epidermal naevus (ILVEN)

Publications

  • https://doi.org/10.1016/S2096-6911(21)00044-3

Mode of pathogenicity
Other

Created: 3 Apr 2023, 4:30 a.m.

Panel version: 1.1

History Filter Activity

5 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cspp1 has been classified as Red List (Low Evidence).

5 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cspp1 has been classified as Red List (Low Evidence).

3 Apr 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: CSPP1 was added gene: CSPP1 was added to Mosaic skin disorders. Sources: Other Mode of inheritance for gene: CSPP1 was set to Unknown Publications for gene: CSPP1 were set to https://doi.org/10.1016/S2096-6911(21)00044-3 Phenotypes for gene: CSPP1 were set to Inflammatory linear verrucous epidermal naevus (ILVEN) Mode of pathogenicity for gene: CSPP1 was set to Other Review for gene: CSPP1 was set to RED