PanelApp (staging)
  1. Panels
  2. Peroxisomal Disorders
Description
This panel was developed and is maintained by VCGS.
Panel Activity

6 reviewers

  • Anna Le Fevre (Victorian Clinical Genetics Services)

  • Samantha Ayres (Victorian Clinical Genetics Services)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

32 Entities

14 reviewed, 29 green

List Entity Reviews Mode of inheritance Details
32 Entitiess
Green Green List (high evidence)
ABCD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • adrenoleukodystrophy (MONDO:0018544)
Tags
Green Green List (high evidence)
ACBD5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinal dystrophy with leukodystrophy (MIM#618863)
Tags
Green Green List (high evidence)
ACOX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
Tags
Green Green List (high evidence)
ACOX2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 6, 617308
Tags
Green Green List (high evidence)
AGPS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AGXT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AMACR
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ARSE
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive (MIM#302950)
Tags
  • new gene name
Green Green List (high evidence)
CAT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DNM1L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FAR1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154)
  • Cataracts, spastic paraparesis, and speech delay, MIM#619338
Tags
Green Green List (high evidence)
GNPAT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HSD17B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • D-bifunctional protein deficiency, AR (MIM#261515)
  • Perrault syndrome 1, AR (MIM#233400)
Tags
Green Green List (high evidence)
PEX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX11B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 14B - MIM#614920
Tags
Green Green List (high evidence)
PEX12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX13
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX14
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
Tags
Green Green List (high evidence)
PEX16
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX19
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX26
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110
  • Peroxisome biogenesis disorder 2B, MIM# 202370
  • Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716
Tags
Green Green List (high evidence)
PEX6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PEX7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 9B, MIM# 614879
  • Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Tags
Green Green List (high evidence)
PHYH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Refsum disease, MIM# 266500
Tags
Green Green List (high evidence)
TRIM37
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
EBP
2 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant (MIM#302960)
Tags
Amber Amber List (moderate evidence)
SCP2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Tags
Red Red List (low evidence)
ABCD3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 5 (MIM#616278)
Tags

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