PEX19

peroxisomal biogenesis factor 19
OMIM: 600279, ClinGen, DECIPHER

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 1.0	1 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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Green PEX19 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 12A (Zellweger) MIM#614886
Red PEX19 in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 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 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PEX19 in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	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 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886
Green PEX19 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	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 1.0	0 reviews	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Green PEX19 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 12A (Zellweger), 614886
Red PEX19 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Zellweger syndrome
Green PEX19 in Fetal anomalies Version 2.0	2 reviews	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 3.0	2 reviews	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 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Zellweger syndrome