PEX14

peroxisomal biogenesis factor 14
OMIM: 601791, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Amber PEX14 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 8A (Zellweger) MIM#614876
Amber PEX14 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Green PEX14 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 8A (Zellweger) MIM#614876
Amber PEX14 in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Green PEX14 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 PEX14 in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 13A (Zellweger) - MIM#614887
Green PEX14 in Peroxisomal Disorders Level 2: Metabolic disorders Version 1.0	2 reviews	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
Green PEX14 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PEX14 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887 peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
Green PEX14 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 13A (Zellweger), 614887
Red PEX14 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 PEX14 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Red PEX14 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