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Mendeliome

Gene: LIPH

Green List (high evidence)

LIPH (lipase H)
EnsemblGeneIds (GRCh38): ENSG00000163898
EnsemblGeneIds (GRCh37): ENSG00000163898
OMIM: 607365, Gene2Phenotype
LIPH is in 2 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association, extensive literature publications
Created: 2 May 2022, 2:39 a.m. | Last Modified: 2 May 2022, 2:39 a.m.
Panel Version: 0.13588

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379; Hypotrichosis 7, MIM# 604379

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379
  • Hypotrichosis 7, MIM# 604379
OMIM
607365
Clinvar variants
Variants in LIPH
Penetrance
None
Panels with this gene

History Filter Activity

2 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: liph has been classified as Green List (High Evidence).

2 May 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: LIPH were changed from to Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379; Hypotrichosis 7, MIM# 604379

2 May 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LIPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIPH was added gene: LIPH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIPH was set to Unknown