Neonatal cholestasis

Gene: PEX1

Green List (high evidence)

PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:55 p.m.

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Variants also associated with Heimler syndrome 1 234580 and Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Created: 25 Jul 2018, 9:53 a.m.
Comment on list classification: Associated with relevant phenotype (Peroxisome biogenesis disorder 1A (Zellweger), 214100) in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 3 unrelated cases. Supportive functional studies also provided.
Created: 25 Jul 2018, 9:51 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Zellweger syndrome

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pex1 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PEX1 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 1A (Zellweger), 214100; Zellweger syndrome

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex1 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX1 were set to 22871920; 9398847; 9398848

25 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX1 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 1A (Zellweger), 214100

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex1 has been classified as Green List (High Evidence).

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PEX1. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to PEX1. Panel: Cholestasis Model of inheritance for gene PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene PEX1 were set to Neonatal and Adult Cholestasis, Peroxisome Biogenesis Disorder 1A (Zellweger)

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PEX1 was created by Ellen McDonagh