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Early onset or syndromic epilepsy v8.159 SPATA5L1 Arina Puzriakova Tag gene-checked was removed from gene: SPATA5L1.
Early onset or syndromic epilepsy v4.179 SPATA5 Arina Puzriakova Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome 616577 to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
Early onset or syndromic epilepsy v4.118 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Early onset or syndromic epilepsy v4.118 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
Early onset or syndromic epilepsy v4.102 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
Early onset or syndromic epilepsy v4.102 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Early onset or syndromic epilepsy v3.35 SPATA5L1 Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
Early onset or syndromic epilepsy v3.30 SPATA5L1 Arina Puzriakova Tag Q1_22_rating was removed from gene: SPATA5L1.
Early onset or syndromic epilepsy v3.29 SPATA5L1 Arina Puzriakova reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.28 SPATA5L1 Arina Puzriakova Source Expert Review Green was added to SPATA5L1.
Source NHS GMS was added to SPATA5L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.486 SPATA5L1 Ivone Leong gene: SPATA5L1 was added
gene: SPATA5L1 was added to Genetic epilepsy syndromes. Sources: Expert Review Amber,Literature
Q1_22_rating tags were added to gene: SPATA5L1.
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 Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Early onset or syndromic epilepsy v1.341 SPATA5 Rebecca Foulger Classified gene: SPATA5 as Green List (high evidence)
Early onset or syndromic epilepsy v1.341 SPATA5 Rebecca Foulger Added comment: Comment on list classification: The Green review by Helen Lord (September 23rd 2019) supports the existing Green rating of SPATA5.
Early onset or syndromic epilepsy v1.341 SPATA5 Rebecca Foulger Gene: spata5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.336 SPATA5 Helen Lord reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26299366, 29343804; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.256 SPATA5 Sarah Leigh Publications for gene: SPATA5 were set to PMID: 27246907; 29343804; 26299366
Early onset or syndromic epilepsy v1.255 SPATA5 Sarah Leigh Classified gene: SPATA5 as Green List (high evidence)
Early onset or syndromic epilepsy v1.255 SPATA5 Sarah Leigh Added comment: Comment on list classification: Based on review from Rachel Jones (GSTT): 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" Szczaluba et al PMID: 28293831 describes a family where a sibling has isolated sensorineural hearing loss and the same two pathogenic SPATA5 variants as her more typically affected sister. In addition, typically affected individuals may present as congenital SNHL on newborn hearing screen prior to onset of seizures, microcephaly and intellectual disability.
Early onset or syndromic epilepsy v1.255 SPATA5 Sarah Leigh Gene: spata5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.254 SPATA5 Rachel Jones gene: SPATA5 was added
gene: SPATA5 was added to Genetic epilepsy syndromes. Sources: Other
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to PMID: 27246907; 29343804; 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome 616577
Penetrance for gene: SPATA5 were set to Incomplete
Review for gene: SPATA5 was set to GREEN
Added comment: Greater than 15 families have been identified in multiple publications showing that patients with SPATA5 biallelic variants present with intellectual disability, epilepsy, microcephaly and hearing loss. May present as epileptic encephalopathy/epilepsy in the first year of life prior to onset of obvious developmental delay.
Sources: Other