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Speech apraxia

Gene: ANK2

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

1 review

Thomas Scerri (Murdoch Children's Research Institute)

Red List (low evidence)

An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 8:12 a.m. | Last Modified: 12 Sep 2024, 8:23 a.m.
Panel Version: 1.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiac arrhythmia, ankyrin-B-related, MIM# 600919; Long QT syndrome 4, MIM# 600919; Neurodevelopmental disorder (MONDO:0700092), ANK2-related

Publications

Created: 12 Sep 2024, 8:12 a.m.
Last Modified: 12 Sep 2024, 8:23 a.m.
Panel version: 1.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), gene-related
OMIM
106410
Clinvar variants
Variants in ANK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ank2 has been classified as Red List (Low Evidence).

12 Sep 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANK2 were changed from Cardiac arrhythmia, ankyrin-B-relatedNeurodevelopmental disorder (MONDO:0700092), gene-related to Neurodevelopmental disorder (MONDO:0700092), gene-related

12 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ank2 has been classified as Red List (Low Evidence).

12 Sep 2024, Gel status: 0

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

Thomas Scerri (Murdoch Children's Research Institute)

gene: ANK2 was added gene: ANK2 was added to Speech apraxia. Sources: Expert Review Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANK2 were set to 37195288 Phenotypes for gene: ANK2 were set to Cardiac arrhythmia, ankyrin-B-relatedNeurodevelopmental disorder (MONDO:0700092), gene-related Review for gene: ANK2 was set to RED