Monogenic hearing loss
Gene: LHFPL5EnsemblGeneIds (GRCh38): ENSG00000197753
EnsemblGeneIds (GRCh37): ENSG00000197753
OMIM: 609427, Gene2Phenotype
LHFPL5 is in 1 panel
5 reviews
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 3:09 p.m.
Comment on list classification: Probable DD gene for deafness autosomal recessive type 67.Created: 17 Feb 2016, 4:57 p.m.
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#610265:Deafness, autosomal recessive 67
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:42 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Nonsyndromic Hearing Loss, Recessive
- Deafness, autosomal recessive 67, 610265
- OMIM
- 609427
- Clinvar variants
- Variants in LHFPL5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LHFPL5 were set to Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 67, 610265
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LHFPL5 were set to PMID:15905332; 16459341; 16752389
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LHFPL5 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LHFPL5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LHFPL5 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LHFPL5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LHFPL5 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LHFPL5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LHFPL5 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LHFPL5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)LHFPL5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert