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  3. RETREG1
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Familial dysautonomia

Gene: RETREG1

Green List (high evidence)
RETREG1 (reticulophagy regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000154153
EnsemblGeneIds (GRCh37): ENSG00000154153
OMIM: 613114, Gene2Phenotype
RETREG1 is in 9 panels

4 reviews

Louise Daugherty (Genomics England Curator)

New approved gene symbol is RETREG1
Created: 24 Mar 2017, 10:39 a.m.
Created: 24 Mar 2017, 10:39 a.m.

Panel version: 1.3

Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 8 Dec 2016, 1:18 p.m.

Panel version: 1.2

Alice Gardham (Genomics England)

Comment when marking as ready: Mostly sensory symptom but variable dysautonomia reported
Created: 17 Nov 2016, 3:51 p.m.
Created: 17 Nov 2016, 3:51 p.m.

Panel version: 0.47

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P / DD. At least five homozygous variants reported.
Created: 30 Aug 2016, 2:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IIB 613115

Publications

Created: 30 Aug 2016, 2:40 p.m.

Panel version: 0.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB 613115
OMIM
613114
Clinvar variants
Variants in RETREG1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

FAM134B was changed to RETREG1

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from FAM134B. Panel: Familial dysautonomia

1 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.

17 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

30 Aug 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

FAM134B was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

30 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FAM134B was created by sleigh