Deafness_IsolatedAndComplex
Gene: PLOD3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lysyl hydroxylase 3 deficiency, MIM# 612394
This gene has a complex phenotype that includes features of a connective tissue disorder; 3/5 described unrelated families have sensorineural deafness as a feature (PMID as above plus an abstract from 2013 ESHG by Steichen-Gersdorf et al). At least one proband has required cochlear implantation.
Sources: LiteratureCreated: 18 Mar 2020, 4:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sensorineural deafness
Publications
Phenotypes for gene: PLOD3 were changed from Sensorineural deafness to Lysyl hydroxylase 3 deficiency, MIM# 612394; Sensorineural deafness
Gene: plod3 has been classified as Green List (High Evidence).
Gene: plod3 has been classified as Green List (High Evidence).
gene: PLOD3 was added gene: PLOD3 was added to Deafness. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 31129566 Phenotypes for gene: PLOD3 were set to Sensorineural deafness Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to GREEN