RETREG1

reticulophagy regulator 1
OMIM: 613114, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green RETREG1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 MONDO:0013142
Green RETREG1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 HSAN/SFN
Green RETREG1 in Pain syndromes Level 2: Neurology and neurodevelopmental disorders Version 0.34 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 MONDO:0013142
Green RETREG1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
Green RETREG1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 MONDO:0013142
Green RETREG1 in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.50	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 MONDO:0013142
Green RETREG1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
Red RETREG1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115