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Hearing loss

Gene: DVL1

Red List (low evidence)

DVL1 (dishevelled segment polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000107404
EnsemblGeneIds (GRCh37): ENSG00000107404
OMIM: 601365, Gene2Phenotype
DVL1 is in 8 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#616331:Robinow syndrome, autosomal dominant 2[Short stature (in some patients); Macrocephaly; Frontal bossingHigh foreheadMidface hypoplasiaLong philtrumMicrognathia (in some patients); Conductive hearing loss (in some patients)Sensorineural hearing loss (in some patients)Abnormal ear shape (in some patients)Abnormal ear position (in some patients); HypertelorismProminent eyes; Short noseWide, low nasal bridgeAnteverted nares; Triangular mouthThin upper lipGingival hyperplasia; Dental anomaliesMalocclusionDental crowding; Pectus anomalies; Umbilical hernia (in some patients); Micropenis; Cryptorchidism; Osteosclerosis (in some patients); Thickened calvaria (in some patients); Mesomelia (in some patients)Undertubulated long bones (in some patients); BrachydactylyClinodactylyBroad thumbsHypoplastic distal phalanges; BrachydactylyBroad first toesHypoplastic distal phalanges]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DVL1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert