Deafness_IsolatedAndComplex
Gene: LMX1A
Now 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, 11:15 p.m. | Last Modified: 24 Sep 2020, 11:15 p.m.
Panel Version: 0.396
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal dominant 7 MIM#601412; non-syndromic hearing loss
Publications
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
Single family reported and a mouse model.Created: 2 Jan 2020, 4:54 a.m. | Last Modified: 2 Jan 2020, 4:54 a.m.
Panel Version: 0.200
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive
Publications
Phenotypes for gene: LMX1A were changed from Deafness, autosomal recessive and autosomal dominant to Deafness, autosomal dominant 7 MIM#601412; Deafness, autosomal recessive
Publications for gene: LMX1A were set to 29754270; 29971487
Gene: lmx1a has been classified as Green List (High Evidence).
Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: LMX1A were changed from to Deafness, autosomal recessive and autosomal dominant
Publications for gene: LMX1A were set to
Mode of inheritance for gene: LMX1A was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene: lmx1a has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: LMX1A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene: lmx1a has been classified as Amber List (Moderate Evidence).
gene: LMX1A was added gene: LMX1A was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: LMX1A was set to Unknown