LMX1A

LIM homeobox transcription factor 1 alpha
OMIM: 600298, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green LMX1A in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 7 MIM#601412 non-syndromic hearing loss
Green LMX1A in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 7 MIM#601412 Deafness, autosomal recessive
Green LMX1A in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	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
No list LMX1A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes Deafness MIM#601412
Red LMX1A in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Deafness, autosomal dominant 7 MIM#601412