PanelApp
  1. Genes and Genomic Entities
  2. RETREG1

RETREG1

reticulophagy regulator 1
OMIM: 613114, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RETREG1 in Mendeliome


Version 1.3512

1 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 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 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 0.36

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 0.110

    		0 reviews 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

    		1 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 0.51

    		2 reviews 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
    • MONDO:0013142

    Red RETREG1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115