PEX19

peroxisomal biogenesis factor 19
OMIM: 600279, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Amber PEX19 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.195 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Green PEX19 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.419 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PEX19 in Cataract Level 2: Ophthalmological disorders Version 0.374	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red PEX19 in Cholestasis Level 2: Gastroenterological disorders Version 1.0 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876
Green PEX19 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.325	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PEX19 in Mendeliome Version 1.2656	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886
Green PEX19 in Peroxisomal Disorders Level 2: Metabolic disorders Version 0.54 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PEX19 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.157 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886
Green PEX19 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.545	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PEX19 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.174	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Green PEX19 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.321 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886
Red PEX19 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Zellweger syndrome
Green PEX19 in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886
Green PEX19 in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886 Peroxisome biogenesis disorder MONDO:0019234
Red PEX19 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Zellweger syndrome