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  3. PEX14
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Cholestasis

Gene: PEX14

Amber List (moderate evidence)
PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two cases reported with cholestasis.
Created: 9 Aug 2020, 10:21 a.m. | Last Modified: 9 Aug 2020, 10:21 a.m.
Panel Version: 0.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887

Publications

Created: 9 Aug 2020, 10:21 a.m.
Last Modified: 9 Aug 2020, 10:21 a.m.
Panel version: 0.131

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
OMIM
601791
Clinvar variants
Variants in PEX14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex14 has been classified as Amber List (Moderate Evidence).

9 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887

9 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PEX14 were set to

9 Aug 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex14 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PEX14 was added gene: PEX14 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX14 was set to Unknown