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  3. LMX1A
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Deafness_Isolated

Gene: LMX1A

Green List (high evidence)
LMX1A (LIM homeobox transcription factor 1 alpha)
EnsemblGeneIds (GRCh38): ENSG00000162761
EnsemblGeneIds (GRCh37): ENSG00000162761
OMIM: 600298, Gene2Phenotype
LMX1A is in 5 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 families with monoallelic missense variants (2 with dominant inheritance and 1 de novo), and a single biallelic family. Supporting mouse model and in vitro functional assays.
Created: 24 Sep 2020, 11:17 p.m. | Last Modified: 24 Sep 2020, 11:17 p.m.
Panel Version: 0.17

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 7 MIM#601412; non-syndromic hearing loss

Publications

Created: 24 Sep 2020, 11:17 p.m.
Last Modified: 24 Sep 2020, 11:17 p.m.
Panel version: 0.17

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: Two families with mono-allelic variants and dominant pattern of deafness, one family with bi-allelic variants. Mouse model.
Created: 2 Jan 2020, 4:59 a.m. | Last Modified: 2 Jan 2020, 4:59 a.m.
Panel Version: 0.205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive

Publications

Created: 2 Jan 2020, 4:54 a.m.
Last Modified: 2 Jan 2020, 4:54 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.200

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 7 MIM#601412
  • Deafness, autosomal recessive
OMIM
600298
Clinvar variants
Variants in LMX1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LMX1A were changed from Deafness, autosomal recessive and autosomal dominant to Deafness, autosomal dominant 7 MIM#601412; Deafness, autosomal recessive

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LMX1A were set to 29971487; 29754270

24 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lmx1a has been classified as Green List (High Evidence).

24 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lmx1a has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LMX1A was added gene: LMX1A was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: LMX1A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: LMX1A were set to 29971487; 29754270 Phenotypes for gene: LMX1A were set to Deafness, autosomal recessive and autosomal dominant