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Intellectual disability syndromic and non-syndromic

Gene: ANK3

Green List (high evidence)

ANK3 (ankyrin 3)
EnsemblGeneIds (GRCh38): ENSG00000151150
EnsemblGeneIds (GRCh37): ENSG00000151150
OMIM: 600465, Gene2Phenotype
ANK3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 34218362: four unrelated novel, and two previously published patients with heterozygos ANK3 LoF variants are reported/summarized.
Created: 3 Dec 2021, 6:34 a.m. | Last Modified: 3 Dec 2021, 6:34 a.m.
Panel Version: 0.4326
One family reported with 3 sibs and bi-allelic variants; another affected individual with de novo mono allelic variant; association studies with a range of psychiatric disorders.
Created: 28 Jan 2020, 10:16 a.m. | Last Modified: 28 Jan 2020, 10:16 a.m.
Panel Version: 0.1742

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive, 37 615493

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive, 37 615493
  • Intellectual disability, autosomal dominant
OMIM
600465
Clinvar variants
Variants in ANK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37 615493 to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ank3 has been classified as Green List (High Evidence).

28 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANK3 were set to 23390136; 28687526

28 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ank3 has been classified as Red List (Low Evidence).

28 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANK3 were set to 23390136; 28687526

28 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANK3 were set to

28 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANK3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37 615493

28 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ank3 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANK3 was added gene: ANK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ANK3 was set to Unknown