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Chondrodysplasia Punctata

Gene: PEX5

Amber List (moderate evidence)

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two consanguineous families reported, however same variant, indicative of founder effect. Functional data.
Sources: Expert Review
Created: 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

History Filter Activity

27 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex5 has been classified as Amber List (Moderate Evidence).

27 Mar 2021, Gel status: 2

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

27 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex5 has been classified as Amber List (Moderate Evidence).

27 Mar 2021, Gel status: 1

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