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Early onset or syndromic epilepsy v5.6 SCN8A Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 SCN8A Achchuthan Shanmugasundram Tag for-review was removed from gene: SCN8A.
Tag to_be_confirmed_NHSE was removed from gene: SCN8A.
Early onset or syndromic epilepsy v5.6 SCN8A Eleanor Williams reviewed gene: SCN8A: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v5.5 SCN8A Achchuthan Shanmugasundram Mode of inheritance for gene SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.498 SCN8A Sarah Leigh commented on gene: SCN8A: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Early onset or syndromic epilepsy v2.491 SCN8A Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SCN8A.
Early onset or syndromic epilepsy v2.485 SCN8A Sarah Leigh changed review comment from: Comment on mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown from BOTH monoallelic and biallelic, autosomal or pseudoautosomal, while the strength of the evidence is reviewed.; to: Comment on mode of inheritance: The mode of inheritance has been reverted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown from BOTH monoallelic and biallelic, autosomal or pseudoautosomal, while the strength of the evidence is reviewed.
Early onset or syndromic epilepsy v2.485 SCN8A Sarah Leigh Added comment: Comment on mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown from BOTH monoallelic and biallelic, autosomal or pseudoautosomal, while the strength of the evidence is reviewed.
Early onset or syndromic epilepsy v2.485 SCN8A Sarah Leigh Mode of inheritance for gene: SCN8A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v2.484 SCN8A Sarah Leigh Deleted their comment
Early onset or syndromic epilepsy v2.483 SCN8A Helen Lord reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31625145; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.375 SCN8A Arina Puzriakova Phenotypes for gene: SCN8A were changed from ?Cognitive impairment with or without cerebellar ataxia,614306; Epileptic encephalopathy, early infantile,614558; Seizures, benign familial infantile,617080 to Developmental and epileptic encephalopathy 13, OMIM:614558; Seizures, benign familial infantile, 5, OMIM:617080; ?Myoclonus, familial, 2, OMIM:618364
Early onset or syndromic epilepsy v2.201 SCN8A Arina Puzriakova Tag for-review tag was added to gene: SCN8A.
Early onset or syndromic epilepsy v2.201 SCN8A Arina Puzriakova commented on gene: SCN8A
Early onset or syndromic epilepsy v2.25 SCN8A Sarah Leigh Added comment: Comment on mode of pathogenicity: Based on report in PMID 31625145, reporting biallelic loss of function SCN8A variants in three cases in two families with severe developmental and epileptic encephalopathy. This differs from the previosly reported gain of function, monoallelic variants (PMID 24194747;22365152).
Early onset or syndromic epilepsy v2.25 SCN8A Sarah Leigh Mode of pathogenicity for gene: SCN8A was changed from Other to Other
Early onset or syndromic epilepsy v2.24 SCN8A Sarah Leigh Added comment: Comment on mode of pathogenicity: Based on report in PMID 31625145, reporting biallelic loss of function SCN8A variants in three cases in two families with severe developmental and epileptic encephalopathy.
Early onset or syndromic epilepsy v2.24 SCN8A Sarah Leigh Mode of pathogenicity for gene: SCN8A was changed from None to Other
Early onset or syndromic epilepsy v2.23 SCN8A Sarah Leigh Added comment: Comment on mode of inheritance: Based on report in PMID 31625145, reporting biallelic loss of function SCN8A variants in three cases in two families with severe developmental and epileptic encephalopathy.
Early onset or syndromic epilepsy v2.23 SCN8A Sarah Leigh Mode of inheritance for gene: SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.22 SCN8A Sarah Leigh Phenotypes for gene: SCN8A were changed from Cognitive impairment with or without cerebellar ataxia; Intellectual disability; Epileptic encephalopathy, early infantile, 13 to ?Cognitive impairment with or without cerebellar ataxia,614306; Epileptic encephalopathy, early infantile,614558; Seizures, benign familial infantile,617080
Early onset or syndromic epilepsy v2.21 SCN8A Sarah Leigh Publications for gene: SCN8A were set to Trudeau et al (2004) J Med Genet 43: 527_530; O'Brien and Meisler (2013) Frontiers in Genet 4(213): 1-9; Veeramah et al (2012) Am J Hum Genet 90: 502_510
Early onset or syndromic epilepsy v2.0 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31625145; Phenotypes: Epileptic encephalopathy, early infantile, 13, MIM# 614558, dominant and recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v1.191 SCN8A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN8A.
Early onset or syndromic epilepsy v1.190 SCN8A Rebecca Foulger Source NHS GMS was added to SCN8A.
Early onset or syndromic epilepsy v1.189 SCN8A Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22365152, 24194747 ; Phenotypes: ?Cognitive impairment with or without cerebellar ataxia,614306, Epileptic encephalopathy, early infantile,614558, Seizures, benign familial infantile,617080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy SCN8A Sarah Leigh Added gene to panel