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Genetic Epilepsy

Gene: SPATA5L1

Green List (high evidence)
SPATA5L1 (spermatogenesis associated 5 like 1)
EnsemblGeneIds (GRCh38): ENSG00000171763
EnsemblGeneIds (GRCh37): ENSG00000171763
SPATA5L1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616

Created: 18 Nov 2021, 12:57 a.m.
Last Modified: 18 Nov 2021, 12:57 a.m.
Panel version: 0.1394

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

~64% of patients had epilepsy.
Sources: Literature
Created: 1 Nov 2021, 4:41 a.m. | Last Modified: 1 Nov 2021, 4:43 a.m.
Panel Version: 0.1370

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss

Publications

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

Created: 1 Nov 2021, 4:41 a.m.
Last Modified: 1 Nov 2021, 4:43 a.m.
Panel version: 0.1370

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
Clinvar variants
Variants in SPATA5L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata5l1 has been classified as Green List (High Evidence).

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata5l1 has been classified as Green List (High Evidence).

1 Nov 2021, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: SPATA5L1 was added gene: SPATA5L1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 34626583 Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss Review for gene: SPATA5L1 was set to GREEN gene: SPATA5L1 was marked as current diagnostic