Amelogenesis imperfecta
Gene: PEX6EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 20 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Amelogenesis of the secondary dentition is a feature of Heimler syndrome.Created: 13 Aug 2021, 12:34 a.m. | Last Modified: 13 Aug 2021, 12:34 a.m.
Panel Version: 0.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heimler syndrome 2, MIM# 616617
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Heimler syndrome 2, MIM# 616617
- OMIM
- 601498
- Clinvar variants
- Variants in PEX6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Amelogenesis imperfecta
- Mendeliome
- Cataract
- Usher Syndrome
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex6 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta); Peroxisome biogenesis disorder 4B, 614863 to Heimler syndrome 2, MIM# 616617
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PEX6 were set to 26387595; 27302843; 16530715
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PEX6 was added gene: PEX6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 26387595; 27302843; 16530715 Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta); Peroxisome biogenesis disorder 4B, 614863