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Mendeliome

Gene: SPATA16

Amber List (moderate evidence)

SPATA16 (spermatogenesis associated 16)
EnsemblGeneIds (GRCh38): ENSG00000144962
EnsemblGeneIds (GRCh37): ENSG00000144962
OMIM: 609856, Gene2Phenotype
SPATA16 is in 1 panel

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

3 apparently unrelated individuals reported:
- Homozygous missense variant in 3 brothers with globozoospermia from an Ashkenazi Jewish family. The variant was shown to result in missplicing of exon 4 by in vitro minigene assay.
- Homozygous exon 2 deletion with identical breakpoints in two unrelated Tunisian men with globozoospermia. The two men shared the same haplotype suggesting possible founder effect.

The missense variant did NOT result in a phenotype in a mouse model. Deletion of exon 4 in mice does result in infertility due to spermatogenic arrest but does NOT result in globozoospermia (PMID: 29065458).
Created: 19 Feb 2022, 7:54 a.m. | Last Modified: 19 Feb 2022, 7:54 a.m.
Panel Version: 0.11004

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spermatogenic failure 6 MIM#102530; Spermatogenic failure 6 MONDO:0007060

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Spermatogenic failure 6 MIM#102530
  • Spermatogenic failure 6 MONDO:0007060
OMIM
609856
Clinvar variants
Variants in SPATA16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata16 has been classified as Amber List (Moderate Evidence).

21 Feb 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPATA16 were changed from to Spermatogenic failure 6 MIM#102530; Spermatogenic failure 6 MONDO:0007060

21 Feb 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPATA16 were set to

21 Feb 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SPATA16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata16 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPATA16 was added gene: SPATA16 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPATA16 was set to Unknown