Ichthyosis and erythrokeratoderma
Gene: LIPH

LIPH (lipase H)
EnsemblGeneIds (GRCh38): ENSG00000163898
EnsemblGeneIds (GRCh37): ENSG00000163898
OMIM: 607365, Gene2Phenotype
LIPH is in 4 panels

2 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Created: 10 Apr 2017, 9:10 a.m.

Panel version: Imported from Palmoplantar keratoderma and erythrokeratodermas panel version 0.187

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red after discussion with Helen Brittain: The established phenotype is of hypotrichosis with or without woolly hair. This is not an inclusion on this panel, except for where there is also keratoderma. The initial case reports in a Russian sub-population included 2 sisters out of 29 individuals who also had follicular hyperkeratosis. This phenotype is relatively prevalent in that population and therefore there is no clear evidence, aside from chance, to explain this potential link.
Created: 3 Apr 2017, 11:10 a.m.

Created: 3 Apr 2017, 11:10 a.m.

Panel version: Imported from Palmoplantar keratoderma and erythrokeratodermas panel version 0.182

Details

Sources

Expert Review Red

Phenotypes

Woolly hair/hypotrichosis syndrome

OMIM

607365

Clinvar variants

Variants in LIPH

Penetrance

None

Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: LIPH was added gene: LIPH was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: LIPH was set to Phenotypes for gene: LIPH were set to Woolly hair/hypotrichosis syndrome

Ichthyosis and erythrokeratoderma Gene: LIPH