PanelApp (test)
  1. Genes and Genomic Entities
  2. PEX26

PEX26

peroxisomal biogenesis factor 26
OMIM: 608666, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Amber PEX26 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872

Amber PEX26 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872

Green PEX26 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872

Green PEX26 in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872

Green PEX26 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PEX26 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872
  • Peroxisome biogenesis disorder 7B - MIM#614873

Green PEX26 in Peroxisomal Disorders


Level 2: Metabolic disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PEX26 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872

Green PEX26 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PEX26 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
  • Peroxisome biogenesis disorder 7B MIM614873

Green PEX26 in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger), 614872
  • Peroxisome biogenesis disorder 7B, 614873

Green PEX26 in Usher Syndrome


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Heimler syndrome

Amber PEX26 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
  • Peroxisome biogenesis disorder 7B MIM#614873

Green PEX26 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger), 614872

Green PEX26 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome

Green PEX26 in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 2.1

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Heimler syndrome
  • Amelogenesis imperfecta

Green PEX26 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger), MIM# 614872

Green PEX26 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938
  • Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939

Red PEX26 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872

Green PEX26 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938
  • Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939