Epileptic encephalopathyGene: SPATA5
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.
11 Jun 2018, 10:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epilepsy, hearing loss, and mental retardation syndrome 616577
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: SPATA5 were set to 26299366; 29343804
Gene: spata5 has been classified as Green List (High Evidence).
SPATA5 was added to Epileptic encephalopathy panel. Sources: Literature
SPATA5 was created by Rachel Jones