Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cataracts

Gene: ISPD

Red List (low evidence)

ISPD (isoprenoid synthase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 19 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA
Created: 28 Jan 2019, 4:25 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.
Created: 27 Jun 2016, 4:29 p.m.

History Filter Activity

28 Jan 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ISPD.

27 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ISPD was added to Cataractspanel. Sources: Other

27 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ISPD was created by ellenmcdonagh