Intellectual disability update Jan 2018
Gene: LHFPL3

LHFPL3 (LHFPL tetraspan subfamily member 3)
EnsemblGeneIds (GRCh38): ENSG00000187416
EnsemblGeneIds (GRCh37): ENSG00000187416
OMIM: 609719, Gene2Phenotype
LHFPL3 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: No association with disorders in OMIM or Gene2Phenotype. 1 report in Uliana et al 2010 of this gene (and others) being deleted in a patient with mild mental retardation (PubMed:20219702).
Created: 8 Mar 2018, 10:36 a.m.

EW currently reviewing this gene
Created: 8 Mar 2018, 10:15 a.m.

Created: 8 Mar 2018, 10:15 a.m.

Panel version: 0.418

Details

Sources

Expert Review Red

OMIM

609719

Clinvar variants

Variants in LHFPL3

Penetrance

None

Publications

20219702

Panels with this gene

Intellectual disability

History Filter Activity

8 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for LHFPL3 were set to 20219702

8 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LHFPL3 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created