Ophthalmological ciliopathies

Gene: SPATA7

Red List (low evidence)

SPATA7 (spermatogenesis associated 7)
EnsemblGeneIds (GRCh38): ENSG00000042317
EnsemblGeneIds (GRCh37): ENSG00000042317
OMIM: 609868, Gene2Phenotype
SPATA7 is in 8 panels

1 review

Alice Gardham (Genomics England)

Comment on list classification: Leber congenital amaurosis and retinitis pigmentosa are not included in this panel
Created: 23 Jan 2017, 12:09 p.m.

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leber congenital amaurosis 3, 604232
  • Ciliopathies
  • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
OMIM
609868
Clinvar variants
Variants in SPATA7
Penetrance
None
Panels with this gene

History Filter Activity

8 Jul 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: SPATA7 was added gene: SPATA7 was added to Ophthalmological ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red Mode of inheritance for gene: SPATA7 was set to Phenotypes for gene: SPATA7 were set to Leber congenital amaurosis 3, 604232; Ciliopathies; Retinitis pigmentosa, juvenile, autosomal recessive, 604232