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Mendeliome

Gene: SPATA7

Green List (high evidence)

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

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 3, MIM#604232
  • Autosomal recessive juvenile retinitis pigmentosa, MIM#604232
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 Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPATA7 were changed from to Leber congenital amaurosis 3, MIM#604232; Autosomal recessive juvenile retinitis pigmentosa, MIM#604232

12 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPATA7 were set to

12 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SPATA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPATA7 was added gene: SPATA7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPATA7 was set to Unknown