Amelogenesis imperfecta
Gene: PEX1EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 21 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, 12:32 a.m. | Last Modified: 13 Aug 2021, 12:32 a.m.
Panel Version: 0.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heimler syndrome 1, MIM# 234580
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Heimler syndrome 1, MIM# 234580
- OMIM
- 602136
- Clinvar variants
- Variants in PEX1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Amelogenesis imperfecta
- Mendeliome
- Cataract
- Usher Syndrome
- Syndromic Retinopathy
- 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: pex1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger), 214100; Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta); Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539; hypomineralized amelogenesis imperfecta; amelogenesis imperfecta to Heimler syndrome 1, MIM# 234580
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PEX1 was added gene: PEX1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX1 were set to 26387595; 27633571; 27302843 Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100; Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta); Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539; hypomineralized amelogenesis imperfecta; amelogenesis imperfecta