Chondrodysplasia Punctata
Gene: PEX5EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two consanguineous families reported, however same variant, indicative of founder effect. Functional data.
Sources: Expert ReviewCreated: 27 Mar 2021, 6:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; MONDO:0014743
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716
- MONDO:0014743
- OMIM
- 600414
- Clinvar variants
- Variants in PEX5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Chondrodysplasia Punctata
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Cataract
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex5 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PEX5 were changed from Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716 to Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; MONDO:0014743
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PEX5 was added gene: PEX5 was added to Chondrodysplasia Punctata. Sources: Expert Review Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 26220973 Phenotypes for gene: PEX5 were set to Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716 Review for gene: PEX5 was set to AMBER