Neonatal cholestasis
Gene: PEX7
PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment from: Dr Saikat Santra, Consultant in Clinical IMD, Birmingham Women’s and Children’s NHS Foundation Trust "PEX7 (rhizomelic chondrodysplasia punctata) which although a biogenesis disorder appears to be very limited to plasmalogen production and hence cholestasis (and even abnormal very long chain fatty acids) may not be seen."Created: 28 Aug 2018, 1:40 p.m.
Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2PhenCreated: 13 Aug 2018, 3:11 p.m.
Details
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Peroxisome biogenesis disorder 9B 614879
- Rhizomelic chondrodysplasia punctata, type 1 215100
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- None
- Panels with this gene
-
- Peroxisomal disorders
- DDG2P
- Adult onset leukodystrophy
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Fetal hydrops
- Early onset or syndromic epilepsy
- Bilateral congenital or childhood onset cataracts
- Malformations of cortical development
- Likely inborn error of metabolism
- Intellectual disability
- Arthrogryposis
- Ductal plate malformation
- Retinal disorders
- Palmoplantar keratodermas
- Skeletal dysplasia
- Neonatal cholestasis
- Glaucoma (developmental)
- Hereditary neuropathy
- Structural eye disease
- Chondrodysplasia punctata
History Filter Activity
3 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
13 Aug 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex7 has been classified as Red List (Low Evidence).
13 Aug 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B 614879; Rhizomelic chondrodysplasia punctata, type 1 215100
21 Jun 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX7. Panel: Cholestasis
18 May 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PEX7 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
18 May 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)PEX7 was created by Ellen McDonagh