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Early onset or syndromic epilepsy v7.39 CNTN2 Sarah Leigh Tag Q3_24_promote_green was removed from gene: CNTN2.
Tag Q3_24_NHS_review was removed from gene: CNTN2.
Early onset or syndromic epilepsy v7.39 CNTN2 Sarah Leigh reviewed gene: CNTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v7.38 CNTN2 Sarah Leigh Source Expert Review Green was added to CNTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v5.24 CNTN2 Achchuthan Shanmugasundram Classified gene: CNTN2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.24 CNTN2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Early onset or syndromic epilepsy v5.24 CNTN2 Achchuthan Shanmugasundram Gene: cntn2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.23 CNTN2 Achchuthan Shanmugasundram Phenotypes for gene: CNTN2 were changed from Epilepsy, familial adult myoclonic, 5 to Epilepsy, early-onset, 5, with or without developmental delay, OMIM:615400
Early onset or syndromic epilepsy v5.22 CNTN2 Achchuthan Shanmugasundram Publications for gene: CNTN2 were set to
Early onset or syndromic epilepsy v5.21 CNTN2 Achchuthan Shanmugasundram Mode of inheritance for gene: CNTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v5.20 CNTN2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CNTN2.
Tag Q3_24_NHS_review tag was added to gene: CNTN2.
Early onset or syndromic epilepsy v5.20 CNTN2 Achchuthan Shanmugasundram edited their review of gene: CNTN2: Added comment: PMID:23518707 reported a consanguineous Egyptian family in which five siblings aged 11 to 14 years had seizures and were identified with a homozygous frameshift CNTN2 variant (p.Trp168fs).

PMID:34691156 reported a 10-year old boy born of unrelated parents of Han Chinese descent, with developmental delay and onset of generalised tonic-clonic seizures at 5 years of age and identified with a homozygous frameshift CNTN2 variant (p.Thr958Thrfs).

PMID:36553572 reported a 13-year-old boy with global developmental delay and epileptic encephalopathy and was associated with a homozygous nonsense variant (p.Arg314Ter) in the CNTN2 gene.

PMID:37359369 reported a consanguineous Pakistani family in which four siblings developed various types of seizures late in the first decade of their life and had global developmental,ental delay with mild intellectual disability. They were identified with a homozygous nonsense CNTN2 variant (p.Glu567Ter)

This gene has been associated with relevant phenotypes in OMIM (MIM #615400), but not yet in Gene2Phenotype.; Changed publications to: 23518707, 34691156, 36553572, 37359369
Early onset or syndromic epilepsy v5.20 CNTN2 Achchuthan Shanmugasundram reviewed gene: CNTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, early-onset, 5, with or without developmental delay, OMIM:615400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v5.20 CNTN2 Sarah Graham reviewed gene: CNTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37359369, 34691156, 28397838, 36553572; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.191 CNTN2 Rebecca Foulger Source Wessex and West Midlands GLH was added to CNTN2.
Early onset or syndromic epilepsy v1.190 CNTN2 Rebecca Foulger Source NHS GMS was added to CNTN2.
Early onset or syndromic epilepsy v1.189 CNTN2 Rebecca Foulger reviewed gene: CNTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CNTN2 Tracy Lester reviewed gene: CNTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23518707; Phenotypes: ?Epilepsy, myoclonic, familial adult, 5, 615400 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy CNTN2 Sarah Leigh Added gene to panel