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Early onset or syndromic epilepsy v8.45 CHRNA2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As there are three unrelated cases reported with familial sleep-related hypermotor epilepsy phenotype despite limited rating in ClinGen, this gene can remain amber on this panel.; to: Comment on list classification: As there are three unrelated cases reported with familial sleep-related hypermotor epilepsy phenotype despite limited rating in ClinGen, this gene can remain green on this panel.
Early onset or syndromic epilepsy v8.45 CHRNA2 Achchuthan Shanmugasundram Classified gene: CHRNA2 as Green List (high evidence)
Early onset or syndromic epilepsy v8.45 CHRNA2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there are three unrelated cases reported with familial sleep-related hypermotor epilepsy phenotype despite limited rating in ClinGen, this gene can remain amber on this panel.
Early onset or syndromic epilepsy v8.45 CHRNA2 Achchuthan Shanmugasundram Gene: chrna2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v8.44 CHRNA2 Achchuthan Shanmugasundram changed review comment from: Monoallelic variants in CHRNA2 gene have been associated with relevant phenotype in OMIM (MIM #610353, record accessed on 16 October 2025) and Gene2Phenotype (with strong rating on the DD panel).

Monoallelic variants in this gene have been associated with two different phenotypes by the Epilepsy GCEP expert panel in ClinGen:
- familial sleep-related hypermotor epilepsy (MONDO:0000030) - 'Limited' rating. There are three unrelated probands reported with monoallelic CHRNA2 variants and this phenotype.
- benign familial infantile epilepsy (MONDO:0017615) - 'Disputed' rating. There is only one proband reported with CHRNA2 variant and this phenotype.

This gene is also present with monoallelic MOI and green rating in Genetic Epilepsy panel of PanelApp Australia (https://panelapp-aus.org/panels/202/gene/CHRNA2/).; to: Monoallelic variants in CHRNA2 gene have been associated with relevant phenotype in OMIM (MIM #610353, record accessed on 16 October 2025) and Gene2Phenotype (with strong rating on the DD panel).

Monoallelic variants in this gene have been associated with two different phenotypes by the Epilepsy GCEP expert panel in ClinGen:
- familial sleep-related hypermotor epilepsy (MONDO:0000030) - 'Limited' rating. There are three unrelated probands reported with monoallelic CHRNA2 variants and this phenotype.
- benign familial infantile epilepsy (MONDO:0017615) - 'Disputed' rating. There is only one proband reported with CHRNA2 variant and this phenotype.

This gene is also present with monoallelic MOI and green rating in Genetic Epilepsy panel of PanelApp Australia (https://panelapp-aus.org/panels/202/gene/CHRNA2/).
Early onset or syndromic epilepsy v8.44 CHRNA2 Achchuthan Shanmugasundram changed review comment from: Monoallelic variants in CHRNA2 gene have been associated with relevant phenotype in OMIM (MIM #610353, record accessed on 16 October 2025) and Gene2Phenotype (with strong rating on the DD panel).

Monoallelic variants in this gene have been associated with two different phenotypes by the Epilepsy GCEP expert panel in ClinGen:
- familial sleep-related hypermotor epilepsy (MONDO:0000030) - 'Limited' rating. There are three unrelated probands reported with monoallelic CHRNA2 variants and this phenotype.
- benign familial infantile epilepsy (MONDO:0017615) - 'Disputed' rating. There is only one proband reported with CHRNA2 variant and this phenotype.; to: Monoallelic variants in CHRNA2 gene have been associated with relevant phenotype in OMIM (MIM #610353, record accessed on 16 October 2025) and Gene2Phenotype (with strong rating on the DD panel).

Monoallelic variants in this gene have been associated with two different phenotypes by the Epilepsy GCEP expert panel in ClinGen:
- familial sleep-related hypermotor epilepsy (MONDO:0000030) - 'Limited' rating. There are three unrelated probands reported with monoallelic CHRNA2 variants and this phenotype.
- benign familial infantile epilepsy (MONDO:0017615) - 'Disputed' rating. There is only one proband reported with CHRNA2 variant and this phenotype.

This gene is also present with monoallelic MOI and green rating in Genetic Epilepsy panel of PanelApp Australia (https://panelapp-aus.org/panels/202/gene/CHRNA2/).
Early onset or syndromic epilepsy v8.44 CHRNA2 Achchuthan Shanmugasundram edited their review of gene: CHRNA2: Changed publications to: 16826524, 25770198, 25847220, 30809122
Early onset or syndromic epilepsy v8.44 CHRNA2 Achchuthan Shanmugasundram Publications for gene: CHRNA2 were set to 16826524; 2577019; 25847220; 30809122
Early onset or syndromic epilepsy v8.43 CHRNA2 Achchuthan Shanmugasundram Publications for gene: CHRNA2 were set to Aridon et al (2006) Am J Hum Genet 79: 342-350
Early onset or syndromic epilepsy v8.42 CHRNA2 Achchuthan Shanmugasundram Phenotypes for gene: CHRNA2 were changed from Epilepsy, nocturnal frontal lobe, type 4 to Epilepsy, nocturnal frontal lobe, type 4, OMIM:610353; autosomal dominant nocturnal frontal lobe epilepsy 4, MONDO:0012474
Early onset or syndromic epilepsy v8.41 CHRNA2 Achchuthan Shanmugasundram reviewed gene: CHRNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826524, 2577019, 25847220, 30809122; Phenotypes: Epilepsy, nocturnal frontal lobe, type 4, OMIM:610353, autosomal dominant nocturnal frontal lobe epilepsy 4, MONDO:0012474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.191 CHRNA2 Rebecca Foulger Source Wessex and West Midlands GLH was added to CHRNA2.
Early onset or syndromic epilepsy v1.190 CHRNA2 Rebecca Foulger Source NHS GMS was added to CHRNA2.
Early onset or syndromic epilepsy v1.189 CHRNA2 Rebecca Foulger reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CHRNA2 Tracy Lester reviewed gene: CHRNA2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 16826524 , 25770198 ; Phenotypes: Epilepsy, nocturnal frontal lobe, type 4,610353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy CHRNA2 Sarah Leigh classified CHRNA2 as Green List (high evidence)
Early onset or syndromic epilepsy CHRNA2 Sarah Leigh commented on CHRNA2
Early onset or syndromic epilepsy CHRNA2 Sarah Leigh Added gene to panel