Epidermolysis bullosa
Gene: PLOD3EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Agree, at present unclear what proportion of affected individuals have EB phenotype.Created: 18 Mar 2020, 4:27 a.m. | Last Modified: 18 Mar 2020, 4:27 a.m.
Panel Version: 0.24
Lauren Akesson (Royal Melbourne Hospital)
Two unrelated families with complex phenotype
-18834968 with global developmental delay, facial dysmorphism, myopia, skeletal changes, blistering of toes, fingers and pinnae from infancy to age 5 years
- 30463024 with developmental delay, facial dysmorphism, myopia, diaphragmatic eventration, skeletal changes, haemorrhagic blisters and erosions
- A further 3 families with biallelic variants in this gene also had a complex phenotype that did not include blistering skin
As there are only two unrelated families with Epidermolysis Bullosa-like skin changes, this gene does not meet criteria for a gene-disease association.
Sources: LiteratureCreated: 18 Mar 2020, 4:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Blistering skin lesions
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Blistering skin lesions
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plod3 has been classified as Amber List (Moderate 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 Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 30463024 Phenotypes for gene: PLOD3 were set to Blistering skin lesions Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to AMBER