Palmoplantar keratoderma and erythrokeratodermas
Gene: LIPH
LIPH (lipase H)
EnsemblGeneIds (GRCh38): ENSG00000163898
EnsemblGeneIds (GRCh37): ENSG00000163898
OMIM: 607365, Gene2Phenotype
LIPH is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000163898
EnsemblGeneIds (GRCh37): ENSG00000163898
OMIM: 607365, Gene2Phenotype
LIPH is in 4 panels
2 reviews
Helen Brittain (Genomics England Curator)
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.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
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- Woolly hair/hypotrichosis syndrome
- OMIM
- 607365
- Clinvar variants
- Variants in LIPH
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
11 Apr 2017, Gel status: 1
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
3 Apr 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
3 Apr 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
27 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)LIPH was created by ellenmcdonagh
27 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LIPH was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Emory Genetics Laboratory