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Severe Paediatric Disorders

Gene: LHFPL5

Green List (high evidence)

LHFPL5 (LHFPL tetraspan subfamily member 5)
EnsemblGeneIds (GRCh38): ENSG00000197753
EnsemblGeneIds (GRCh37): ENSG00000197753
OMIM: 609427, Gene2Phenotype
LHFPL5 is in 2 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: LHFPL5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal recessive 67, 610265 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 67, 610265
OMIM
609427
Clinvar variants
Variants in LHFPL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene LHFPL5 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene LHFPL5 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes