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Hearing loss

Gene: DLX5

Red List (low evidence)

DLX5 (distal-less homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000105880
EnsemblGeneIds (GRCh37): ENSG00000105880
OMIM: 600028, Gene2Phenotype
DLX5 is in 4 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#220600:?Split-hand/foot malformation 1 with sensorineural hearing loss[Short stature, severe (in some patients); Sensorineural hearing loss; Scoliosis, mild (rare); Asymmetric short and severely deformed legs (in some patients)Normal lower limbs (in some patients); EctrodactylySplit handTapered fingers (in some patients)Dorsalization of palms (in some patients)Restriction of flexion at all metacarpophalangeal and interphalangeal joints (in some patients); EctrodactylySplit footAsymmetrical severely deformed feet (in some patients); Cylindrical nails (in some patients)]

Publications

Details

Sources
  • Expert
OMIM
600028
Clinvar variants
Variants in DLX5
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DLX5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert