Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: SPATA7

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well-established disease gene for congenital and early-onset forms of retinal dystrophy (PMIDs: 31908400, 32799588).
Created: 12 Oct 2020, 7:54 a.m. | Last Modified: 12 Oct 2020, 7:54 a.m.

Panel Version: 0.73

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 12 Oct 2020, 7:54 a.m.
Last Modified: 12 Oct 2020, 7:54 a.m.
Panel version: 0.73

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Leber Congenital Amaurosis
Retinitis pigmentosa, juvenile, autosomal recessive, 604232
Leber congenital amaurosis 3

OMIM

609868

Clinvar variants

Variants in SPATA7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata7 has been classified as Green List (High Evidence).

12 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPATA7 were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPATA7 was added gene: SPATA7 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPATA7 were set to Leber Congenital Amaurosis; Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Leber congenital amaurosis 3

Retinitis pigmentosa_Autosomal Recessive/X-linked Gene: SPATA7