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Kleine-Levin syndrome

Gene: HCRT

Red List (low evidence)
HCRT (hypocretin neuropeptide precursor)
EnsemblGeneIds (GRCh38): ENSG00000161610
EnsemblGeneIds (GRCh37): ENSG00000161610
OMIM: 602358, Gene2Phenotype
HCRT is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One variant reported
Created: 5 Jan 2017, 10:37 a.m.
Created: 5 Jan 2017, 10:37 a.m.

Panel version: 0.23

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ?Narcolepsy 1, 161400
OMIM
602358
Clinvar variants
Variants in HCRT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Rosa Peraita-Adrados (Sleep and Epilepsy Unit-Clinical Neurophysiology Service. Gregorio Maranon University Hospital. Complutense University of Madrid (UCM).Madrid.Spain.), agrees with the status of the gene on this panel, although she has not reviewed every gene individually

1 Feb 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for HCRT were set to ?Narcolepsy 1, 161400

1 Feb 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for HCRT was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for HCRT were set to 10973318

5 Jan 2017, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

HCRTAll sources for gene: HCRT were removed

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HCRT was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Radboud University Medical Center, Nijmegen