LOXHD1

• Haploinsufficiency score: Gene associated with autosomal recessive phenotype
• Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
• Haploinsufficiency Phenotype: DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77
• Haploinsufficiency Phenotype: Deafness, autosomal recessive 77

Haploinsufficiency phenotype comments:

Variation in LOXHD1 has been reported in individuals with autosomal recessive nonsyndromic deafness characterized by moderate to profound prelingual onset. Furthermore, the overall evidence that LOXHD1, when altered via biallelic loss of function, causes autosomal recessive nonsyndromic deafness was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation. Of note: there are missense variants in LOXHD1 in HGMD that have been reported to cause Fuchs corneal dystrophy, however this phenotype wasn't assessed by the ClinGen Hearing Loss Gene Curation.

• Triplosensitivity score: 0
• Strength of Evidence (disclaimer): No evidence for dosage pathogenicity