PDZD7 Chromosome 10

PDZ domain containing 7
101 variants 101 Health Risk

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What This Gene Does
This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
"PDZ domain containing|USH2 complex"
Locus Type
gene with protein product
Location
10q24.31
Ensembl
ENSG00000186862
Associated Conditions (17)
Hearing loss
autosomal recessive 57
Inborn genetic diseases
PDZD7-related disorder
Usher syndrome type 2A
Usher syndrome type 2C
autosomal recessive
Usher syndrome
type IIC
GPR98/PDZD7 digenic
Retinal dystrophy
Hearing impairment
Ear malformation
Rare genetic deafness
Autosomal recessive PDZD7-related disorders
Nonsyndromic genetic hearing loss
Deafness
Key Variants
RS1025144704
Conflicting classifications of pathogenicity
Hearing loss, autosomal recessive 57, Hearing loss
Health Risk
RS113570783
Conflicting classifications of pathogenicity
Health Risk
RS114917863
Conflicting classifications of pathogenicity
Inborn genetic diseases, PDZD7-related disorder, Inborn genetic diseases
Health Risk
RS1206504105
Conflicting classifications of pathogenicity
Health Risk
RS141181035
Conflicting classifications of pathogenicity
Health Risk
RS146641918
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147352555
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS184247824
Conflicting classifications of pathogenicity
PDZD7-related disorder, PDZD7-related disorder
Health Risk
RS199608117
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200592310
Conflicting classifications of pathogenicity
PDZD7-related disorder, PDZD7-related disorder
Health Risk
RS200664140
Conflicting classifications of pathogenicity
Hearing loss, autosomal recessive 57, Usher syndrome type 2A
Health Risk
RS201268590
Conflicting classifications of pathogenicity
Hearing loss, autosomal recessive, Hearing loss
Health Risk
All Variants (101)
RSID Category Clinical Significance Conditions
RS979094623 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Hearing loss, autosomal recessive 57
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