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  3. PLOD3
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Deafness_IsolatedAndComplex

Gene: PLOD3

Green List (high evidence)
PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysyl hydroxylase 3 deficiency, MIM# 612394

Created: 8 Oct 2020, 11:41 p.m.
Last Modified: 8 Oct 2020, 11:41 p.m.
Panel version: 1.4

Lauren Akesson (Royal Melbourne Hospital)

Green List (high evidence)

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: Literature
Created: 18 Mar 2020, 4:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sensorineural deafness

Publications

Created: 18 Mar 2020, 4:41 a.m.

Panel version: 0.328

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lysyl hydroxylase 3 deficiency, MIM# 612394
  • Sensorineural deafness
OMIM
603066
Clinvar variants
Variants in PLOD3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

8 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLOD3 were changed from Sensorineural deafness to Lysyl hydroxylase 3 deficiency, MIM# 612394; Sensorineural deafness

18 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plod3 has been classified as Green List (High Evidence).

18 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plod3 has been classified as Green List (High Evidence).

18 Mar 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Lauren Akesson (Royal Melbourne Hospital)

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