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Hearing loss

Gene: LMX1A

Red List (low evidence)

LMX1A (LIM homeobox transcription factor 1 alpha)
EnsemblGeneIds (GRCh38): ENSG00000162761
EnsemblGeneIds (GRCh37): ENSG00000162761
OMIM: 600298, Gene2Phenotype
LMX1A is in 1 panel

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

Two families described with mono-allelic variants and dominant pattern of deafness; one family with bi-allelic. Mouse model.
Created: 2 Jan 2020, 4:58 a.m. | Last Modified: 2 Jan 2020, 4:58 a.m.
Panel Version: 2.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive and autosomal dominant

Publications

Jun Shen (Harvard Medical School)

Red List (low evidence)

LMX1A is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:07 a.m.
LMX1A is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:43 p.m.

Publications

Details

Sources
  • Expert
OMIM
600298
Clinvar variants
Variants in LMX1A
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LMX1A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert