Hypertrophic cardiomyopathy - teen and adult

Gene: ANKRD1

Red List (low evidence)

ANKRD1 (ankyrin repeat domain 1)
EnsemblGeneIds (GRCh38): ENSG00000148677
EnsemblGeneIds (GRCh37): ENSG00000148677
OMIM: 609599, Gene2Phenotype
ANKRD1 is in 5 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Glycogen storage disease IIIa&b
Created: 25 Mar 2019, 4:30 p.m.
No OMIM phenotype associated. 3 DM variants reported to HGMD associated with HCM, all reclassified - 1 LB and 2 VUS based on functional studies. 23299917: overrepresentation of previously cardiomyopathy-associated genetic variants in population-based exome data. Insufficient evidence to include.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Expert list
  • UKGTN
OMIM
609599
Clinvar variants
Variants in ANKRD1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to ANKRD1. Mode of inheritance for gene ANKRD1 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to ANKRD1.

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ANKRD1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ANKRD1 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN