OXA1L

Panel	Reviews	Mode of inheritance	Details
Amber OXA1L in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Encephalopathy hypotonia developmental delay
Amber OXA1L in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber NHS GMS NHS GMS Phenotypes encephalopathy hypotonia developmental delay

Panel

Reviews

Mode of inheritance

Details

Version 1.1891

review

BIALLELIC, autosomal or pseudoautosomal

Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

Metabolic Disorders Superpanel

Progressive Neurological Conditions

review

BIALLELIC, autosomal or pseudoautosomal

2 panels