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16p12.2 recurrent region (distal)(includes OTOA) Loss
ISCA-46297-Loss 1

Monogenic hearing loss
Gene: MYO1A

MYO1A (myosin IA)
EnsemblGeneIds (GRCh38): ENSG00000166866
EnsemblGeneIds (GRCh37): ENSG00000166866
OMIM: 601478, Gene2Phenotype
MYO1A is in 1 panel

5 reviews

Sarah Leigh (Genomics England Curator)

This gene has been removed from this panel, as the gene / disease association has been refuted (PMID:24616153) .
Created: 17 Dec 2024, 3:42 p.m. | Last Modified: 17 Dec 2024, 3:42 p.m.

Panel Version: 4.64

Created: 17 Dec 2024, 3:42 p.m.
Last Modified: 17 Dec 2024, 3:42 p.m.
Panel version: 4.64

Barbara Vona (University Medical Center Göttingen)

Red List (low evidence)

This gene has been disqualified as a hearing loss gene and, ideally, should be removed from the panel list (Eisenberger et al., 2014; PMID: 24616153).
Created: 25 May 2024, 9:14 a.m. | Last Modified: 25 May 2024, 9:14 a.m.

Panel Version: 4.41

Mode of inheritance
Other

Publications

PMID: 24616153

Created: 25 May 2024, 9:14 a.m.
Last Modified: 25 May 2024, 9:14 a.m.
Panel version: 4.41

Jun Shen (Harvard Medical School)

Red List (low evidence)

MYO1A is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:07 a.m.

MYO1A is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:44 p.m.

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Recent study (24616153) provided evidence that not associated with deafness contrary to earlier suggestions. Panels probably predated this 2014 paper
Created: 29 Jan 2016, 4:03 p.m.

Comment on list classification: Based on expert review and no evidence for involvement in OMIM or G2P
Created: 29 Jan 2016, 3:59 p.m.

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Very unlikely to cause deafness
Created: 30 Sep 2015, 2:56 p.m.

Publications

PMID: 24616153

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Removed
Radboud University Medical Center, Nijmegen
Expert
Emory Genetics Laboratory
UKGTN
Illumina TruGenome Clinical Sequencing Services

Phenotypes

hearing loss
Nonsyndromic Hearing Loss, Dominant
Deafness, autosomal dominant 48, 607841
Deafness,autosomaldominant48,607841

Tags

curated_removed

OMIM

601478

Clinvar variants

Variants in MYO1A

Penetrance

Complete

Publications

24616153

Panels with this gene

Monogenic hearing loss

History Filter Activity

17 Dec 2024, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag curated_removed tag was added to gene: MYO1A.

17 Dec 2024, Gel status: 0

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: myo1a has been removed from the panel.

17 Dec 2024, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MYO1A were set to

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 4