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Mitochondrial disease

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: New HGNC approved name is AFG2A
Created: 23 Jul 2024, 11 p.m. | Last Modified: 23 Jul 2024, 11 p.m.
Panel Version: 0.927
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: 6 Apr 2022, 9:23 a.m. | Last Modified: 6 Apr 2022, 9:23 a.m.
Panel Version: 0.12634

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577

Publications

Created: 6 Apr 2022, 9:23 a.m.
Last Modified: 6 Apr 2022, 9:23 a.m.
Panel version: Imported from Mendeliome panel version 0.12634

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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.
Sources: NHS GMS
Created: 20 Mar 2020, 3:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 20 Mar 2020, 3:10 a.m.

Panel version: 0.220

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
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

23 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).

23 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.

20 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPATA5 was added gene: SPATA5 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5 were set to 30009132; 29343804 Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Review for gene: SPATA5 was set to GREEN