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Research panel - Severe Paediatric Disorders

Gene: SPATA5

Green List (high evidence)
SPATA5 (spermatogenesis associated 5)
EnsemblGeneIds (GRCh38): ENSG00000145375
EnsemblGeneIds (GRCh37): ENSG00000145375
OMIM: 613940, Gene2Phenotype
SPATA5 is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for SPATA5 is AFG2A.
Created: 16 Oct 2023, 6:19 p.m. | Last Modified: 16 Oct 2023, 6:19 p.m.
Panel Version: 1.173
Created: 16 Oct 2023, 6:19 p.m.
Last Modified: 16 Oct 2023, 6:19 p.m.
Panel version: 1.173

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SPATA5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:26 p.m.
Last Modified: 20 Feb 2020, 5:26 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome, 616577
Tags
new-gene-name
OMIM
613940
Clinvar variants
Variants in SPATA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SPATA5 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 for gene: SPATA5

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 for gene: SPATA5

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 for gene: SPATA5

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 for gene: SPATA5

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SPATA5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 for gene: SPATA5

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SPATA5.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SPATA5. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SPATA5 was added gene: SPATA5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SPATA5 was set to