27 Feb 2024
Intellectual disability - microarray and sequencing v5.469
KCNA1
Achchuthan Shanmugasundram Phenotypes for gene: KCNA1 were changed from Episodic ataxia/myokymia syndrome, OMIM:160120 to Episodic ataxia/myokymia syndrome, OMIM:160120
27 Feb 2024
Intellectual disability - microarray and sequencing v5.469
KCNA1
Achchuthan Shanmugasundram Phenotypes for gene: KCNA1 were changed from Episodic ataxia/myokymia syndrome, 160120 to Episodic ataxia/myokymia syndrome, OMIM:160120
27 Feb 2024
Intellectual disability - microarray and sequencing v5.468
KCNA1
Achchuthan Shanmugasundram Publications for gene: KCNA1 were set to 27730449; 30055040; 34778950
27 Feb 2024
Intellectual disability - microarray and sequencing v5.468
KCNA1
Achchuthan Shanmugasundram Publications for gene: KCNA1 were set to 27730449
27 Feb 2024
Intellectual disability - microarray and sequencing v5.467
KCNA1
Achchuthan Shanmugasundram Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Feb 2024
Intellectual disability - microarray and sequencing v5.466
KCNA1
Achchuthan Shanmugasundram Classified gene: KCNA1 as Amber List (moderate evidence)
27 Feb 2024
Intellectual disability - microarray and sequencing v5.466
KCNA1
Achchuthan Shanmugasundram Gene: kcna1 has been classified as Amber List (Moderate Evidence).
27 Feb 2024
Intellectual disability - microarray and sequencing v5.465
KCNA1
Achchuthan Shanmugasundram reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30055040, 34778950; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2024
Intellectual disability - microarray and sequencing v5.453
KCNA1
Tracy Lester reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055040, 34778950; Phenotypes: epileptic encephalopathy, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Feb 2021
Intellectual disability - microarray and sequencing v3.889
KCNA1
Sarah Leigh Source: Expert Review Amber was removed from gene: KCNA1
02 Aug 2017
Intellectual disability - microarray and sequencing
KCNA1
BRIDGE consortium edited their review of KCNA1
27 Jul 2017
Intellectual disability - microarray and sequencing
KCNA1
BRIDGE consortium edited their review of KCNA1
20 Jul 2017
Intellectual disability - microarray and sequencing
KCNA1
Louise Daugherty classified KCNA1 as amber
20 Jul 2017
Intellectual disability - microarray and sequencing
KCNA1
Louise Daugherty commented on KCNA1
19 Jul 2017
Intellectual disability - microarray and sequencing
KCNA1
BRIDGE consortium reviewed KCNA1