Congenital nystagmus
Gene: SPATA7

SPATA7 (spermatogenesis associated 7)
EnsemblGeneIds (GRCh38): ENSG00000042317
EnsemblGeneIds (GRCh37): ENSG00000042317
OMIM: 609868, Gene2Phenotype
SPATA7 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, nystagmus is a feature.
Created: 25 Oct 2021, 5 a.m. | Last Modified: 25 Oct 2021, 5 a.m.

Panel Version: 0.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 3, MIM# 604232

Publications

Created: 25 Oct 2021, 5 a.m.
Last Modified: 25 Oct 2021, 5 a.m.
Panel version: 0.67

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established disease gene for congenital and early-onset forms of retinal dystrophy (PMIDs: 31908400, 32799588).
Created: 12 Oct 2020, 6:36 a.m. | Last Modified: 12 Oct 2020, 6:36 a.m.

Panel Version: 0.4886

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 3, MIM#604232; Autosomal recessive juvenile retinitis pigmentosa, MIM#604232

Publications

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

Created: 12 Oct 2020, 6:36 a.m.
Last Modified: 12 Oct 2020, 6:36 a.m.
Panel version: Imported from Mendeliome panel version 0.4886

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Leber congenital amaurosis 3, MIM# 604232

OMIM

609868

Clinvar variants

Variants in SPATA7

Penetrance

None

Publications

Panels with this gene