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Fetal anomalies

Gene: PEX7

Green List (high evidence)
PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 24 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Established gene-disease association with biallelic variants causing 2 phenotypes, but no genotype-phenotype correlation. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a peroxisomal disorder presenting early in life with disproportionate short stature (primarily proximal parts of extremities), broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. An atypical phenotype with longer survival and less neurologic involvement than rhizomelic chondrodysplasia punctata, normal or near-normal growth, and absence of rhizomelia is also reported.
Created: 21 Feb 2022, 4:18 a.m. | Last Modified: 21 Feb 2022, 4:18 a.m.
Panel Version: 0.3721

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 9B, OMIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100

Publications

Created: 21 Feb 2022, 4:18 a.m.
Last Modified: 21 Feb 2022, 4:18 a.m.
Panel version: 0.3721

History Filter Activity

21 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex7 has been classified as Green List (High Evidence).

21 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PEX7 were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1; REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 to Peroxisome biogenesis disorder 9B, OMIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100

21 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PEX7 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PEX7 was added gene: PEX7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1; REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11