Retinal disorders

Gene: SCAPER

Green List (high evidence)

Green List (high evidence)

Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and internal clinical support for gene-disease association. Retinitis pigmentosa onset is variable and spans child / adult onset depending on the gene, so it is fine to be on the retinal panel.

Created: 30 Nov 2018, 2:12 p.m.

Past onto internal clinical team for further review and consideration to upgrade rating to Green. Query on Retinitis pigmentosa onset.

Created: 30 Nov 2018, 2:08 p.m.

Comment on phenotypes: added phenotype and MIM from OMIM : Tatour et al. (2017) PMID: 28794130 describes 4 patients from 3 unrelated families with intellectual disability disorder and retinitis pigmentosa and identified homozygosity or compound heterozygosity for mutations in the SCAPER gene. Noting that the retinal phenotype associated with null SCAPER mutations is not congenital but presents around the second decade of life, the authors suggested that in the retina, SCAPER does not play a developmental role, but rather is important for photoreceptor function and/or maintenance.

Created: 21 Nov 2018, 11:35 a.m.

Phenotypes
More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism

Publications

• 28041643