Stickler Syndrome
Gene: PLOD3EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 8 panels
1 review
Lauren Akesson (Royal Melbourne Hospital)
Complex phenotype that includes features of a Stickler-like syndrome.
High myopia described in 3/5 described unrelated families
One description of retinal detachment
Facial dysmorphism with midface hypoplasia, microretrognathia
Other features include developmental delay and sensorineural hearing loss
Sources: LiteratureCreated: 18 Mar 2020, 4:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia
- OMIM
- 603066
- Clinvar variants
- Variants in PLOD3
- Penetrance
- unknown
- 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, Set penetrance
Lauren Akesson (Royal Melbourne Hospital)gene: PLOD3 was added gene: PLOD3 was added to Stickler Syndrome. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 30237576; 30463024; 31129566 Phenotypes for gene: PLOD3 were set to Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to GREEN