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Fetal anomalies

Gene: SPATA5

Green List (high evidence)

SPATA5 (spermatogenesis associated 5)
EnsemblGeneIds (GRCh38): ENSG00000145375
EnsemblGeneIds (GRCh37): ENSG00000145375
OMIM: 613940, Gene2Phenotype
SPATA5 is in 11 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26299366 - 12/14 patients presented with microcephaly, incl 4x with congenital microcephaly and another 4 with acquired microcephaly
Sources: Literature
Created: 14 Jul 2021, 5:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome MIM#616577

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: New HGNC approved name is AFG2A
Created: 24 Jul 2024, 4:51 a.m. | Last Modified: 24 Jul 2024, 4:51 a.m.
Panel Version: 1.255
At least five cases with biallelic variants had a clinical presentation resembling a mitochondrial disorder. Functional assays showed SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons.
Created: 20 Mar 2020, 5:18 a.m. | Last Modified: 20 Mar 2020, 5:18 a.m.
Panel Version: 0.2470

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome MIM#616577

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • Genetic Health Queensland
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Tags
new gene name
OMIM
613940
Clinvar variants
Variants in SPATA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata5 has been classified as Green List (High Evidence).

24 Jul 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: SPATA5.

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata5 has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPATA5 were changed from EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPATA5 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPATA5 was added gene: SPATA5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME