15 Apr 2021
Intellectual disability - microarray and sequencing v3.1017
KCNH1
Arina Puzriakova Phenotypes for gene: KCNH1 were changed from Temple-Baraitser syndrome, OMIM:611816; Temple-Baraitser syndrome, MONDO:0012735; Zimmermann-Laband syndrome 1, OMIM:135500; Zimmermann-Laband syndrome 1, MONDO:0024526 to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS
15 Apr 2021
Intellectual disability - microarray and sequencing v3.1016
KCNH1
Arina Puzriakova Publications for gene: KCNH1 were set to 25420144; 33594261
15 Apr 2021
Intellectual disability - microarray and sequencing v3.1015
KCNH1
Arina Puzriakova edited their review of gene: KCNH1: Changed phenotypes: Intellectual disability, Encephalopathy without features of TBS/ZLS
15 Apr 2021
Intellectual disability - microarray and sequencing v3.1015
KCNH1
Arina Puzriakova reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Feb 2021
Intellectual disability - microarray and sequencing v3.965
KCNH1
Arina Puzriakova Publications for gene: KCNH1 were set to 25420144
26 Feb 2021
Intellectual disability - microarray and sequencing v3.964
KCNH1
Arina Puzriakova Phenotypes for gene: KCNH1 were changed from TEMPLE BARRAISTER SYNDROME to Temple-Baraitser syndrome, OMIM:611816; Temple-Baraitser syndrome, MONDO:0012735; Zimmermann-Laband syndrome 1, OMIM:135500; Zimmermann-Laband syndrome 1, MONDO:0024526
20 Feb 2021
Intellectual disability - microarray and sequencing v3.963
KCNH1
Julia Baptista reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33594261; Phenotypes: Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
28 Sep 2018
Intellectual disability - microarray and sequencing v2.468
KCNH1
Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNH1.