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  2. Intellectual disability syndromic and non-syndromic
  3. ANK2
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Intellectual disability syndromic and non-syndromic

Gene: ANK2

Green List (high evidence)
ANK2 (ankyrin 2)
EnsemblGeneIds (GRCh38): ENSG00000145362
EnsemblGeneIds (GRCh37): ENSG00000145362
OMIM: 106410, Gene2Phenotype
ANK2 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Link with cardiac abnormalities such as LongQT is DISPUTED.

More than 10 unrelated individuals reported with neurodevelopmental phenotype, comprising autism/ID and de novo truncating variants, in addition to many other individuals as part of large NDD cohorts. This association has been assessed as DEFINITIVE by ClinGen.
Created: 2 Aug 2021, 2 a.m. | Last Modified: 2 Aug 2021, 2 a.m.
Panel Version: 0.4009

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Complex neurodevelopmental disorder, MONDO:0100038

Publications

Created: 2 Aug 2021, 2 a.m.
Last Modified: 2 Aug 2021, 2 a.m.
Panel version: 0.4009

Anna Le Fevre (Victorian Clinical Genetics Services)

Publications largely cover autism risk and discovery in large cohorts. ClinGen review mentions ID, seizures and microcephaly but phenotype and penetrance appear incompletely described.
Created: 2 Aug 2021, 1:42 a.m. | Last Modified: 2 Aug 2021, 1:42 a.m.
Panel Version: 0.4009
Curated by ClinGen 2020 as definitively associated
? consider taking gene off incidentalome gene list
Sources: Other
Created: 2 Aug 2021, 1:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; autism

Publications

Created: 2 Aug 2021, 1:23 a.m.

Panel version: 0.4009

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Complex neurodevelopmental disorder, MONDO:0100038
OMIM
106410
Clinvar variants
Variants in ANK2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ank2 has been classified as Green List (High Evidence).

2 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038 to Complex neurodevelopmental disorder, MONDO:0100038

2 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANK2 were set to 22542183; 25363768; 27479843; 28554332; 30564305; 30755392; 31981491; 33004838; 33057194

2 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANK2 were changed from intellectual disability to Complex neurodevelopmental disorder, MONDO:0100038

2 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANK2 were set to 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491

2 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ank2 has been classified as Green List (High Evidence).

2 Aug 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Anna Le Fevre (Victorian Clinical Genetics Services)

gene: ANK2 was added gene: ANK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANK2 were set to 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491 Phenotypes for gene: ANK2 were set to intellectual disability Penetrance for gene: ANK2 were set to unknown