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Epileptic encephalopathy

Gene: SPATA5

Green List (high evidence)

SPATA5 (spermatogenesis associated 5)
EnsemblGeneIds (GRCh38): ENSG00000145375
EnsemblGeneIds (GRCh37): ENSG00000145375
OMIM: 613940, Gene2Phenotype
SPATA5 is in 6 panels

1 review

Rachel Jones (GSTT)

Green List (high evidence)

Tanaka et al PMID: 26299366 identified "14 individuals [from 10 families] with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants" in SPATA5

Puussep et al PMID: 29343804 describes 5 further patients "with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene".

Currently diagnostic on Guy's exome panel.
Created: 11 Jun 2018, 10:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome 616577

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome 616577
OMIM
613940
Clinvar variants
Variants in SPATA5
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

11 Jun 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SPATA5 were set to 26299366; 29343804

11 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Rachel Jones (GSTT)

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

11 Jun 2018, Gel status: 1

Added New Source

Rachel Jones (GSTT)

SPATA5 was added to Epileptic encephalopathy panel. Sources: Literature

11 Jun 2018, Gel status: 1

Created

Rachel Jones (GSTT)

SPATA5 was created by Rachel Jones