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Mendeliome

Gene: SPAG17

Red List (low evidence)

SPAG17 (sperm associated antigen 17)
EnsemblGeneIds (GRCh38): ENSG00000155761
EnsemblGeneIds (GRCh37): ENSG00000155761
OMIM: 616554, Gene2Phenotype
SPAG17 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with two affected brothers, homozygous missense variant.
Sources: Literature
Created: 17 Jun 2021, 9:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 55, MIM#619380

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spermatogenic failure 55, MIM#619380
OMIM
616554
Clinvar variants
Variants in SPAG17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spag17 has been classified as Red List (Low Evidence).

17 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPAG17 was added gene: SPAG17 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SPAG17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPAG17 were set to 28548327 Phenotypes for gene: SPAG17 were set to Spermatogenic failure 55, MIM#619380 Review for gene: SPAG17 was set to RED