Aortopathy_Connective Tissue Disorders
Gene: PLOD3EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least three families reported with bi-allelic variants in this gene and a connective tissue phenotype; another in a large study reporting multiple emerging genes in consanguineous families.
Sources: LiteratureCreated: 8 Dec 2019, 10:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lysyl hydroxylase 3 deficiency, MIM#612394
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Lysyl hydroxylase 3 deficiency, MIM#612394
- OMIM
- 603066
- Clinvar variants
- Variants in PLOD3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plod3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plod3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PLOD3 was added gene: PLOD3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 31129566; 30237576; 30463024 Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394 Review for gene: PLOD3 was set to GREEN