Congenital diaphragmatic hernia
Gene: PLS3EnsemblGeneIds (GRCh38): ENSG00000102024
EnsemblGeneIds (GRCh37): ENSG00000102024
OMIM: 300131, Gene2Phenotype
PLS3 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Diaphragmatic hernia 5, X-linked, MIM# 306950
Lauren Rogers (Victorian Clinical Genetics Services)
8 unrelated families with affected males with an X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism.
Sources: LiteratureCreated: 5 Oct 2023, 1:37 a.m. | Last Modified: 5 Oct 2023, 1:38 a.m.
Panel Version: 1.12
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
congenital diaphragmatic hernia MONDO:0005711, PLS3-related
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Diaphragmatic hernia 5, X-linked, MIM# 306950
- OMIM
- 300131
- Clinvar variants
- Variants in PLS3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PLS3 were changed from congenital diaphragmatic hernia MONDO:0005711, PLS3-related to Diaphragmatic hernia 5, X-linked, MIM# 306950
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: pls3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: pls3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauren Rogers (Victorian Clinical Genetics Services)gene: PLS3 was added gene: PLS3 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLS3 were set to 37751738 Phenotypes for gene: PLS3 were set to congenital diaphragmatic hernia MONDO:0005711, PLS3-related Review for gene: PLS3 was set to GREEN