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Cholestasis

Gene: LIPA

Green List (high evidence)
LIPA (lipase A, lysosomal acid type)
EnsemblGeneIds (GRCh38): ENSG00000107798
EnsemblGeneIds (GRCh37): ENSG00000107798
OMIM: 613497, Gene2Phenotype
LIPA is in 11 panels

2 reviews

Miranda Durkie (Genetics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 16 Nov 2021, 1:58 p.m.
Last Modified: 16 Nov 2021, 1:58 p.m.
Panel version: 1.93

Ivone Leong (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
Comment on publications: Comment on publications: New publications added.
Created: 23 Nov 2021, 11:40 a.m. | Last Modified: 23 Nov 2021, 11:40 a.m.
Panel Version: 1.97
This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.
Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74
Created: 18 Nov 2020, 4:01 p.m.
Last Modified: 18 Nov 2020, 4:01 p.m.
Panel version: 1.105

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • lysosomal acid lipase deficiency
  • Wolman disease, OMIM:278000, MONDO:0019148
  • Cholesteryl ester storage disease, OMIM:278000, MONDO:0019149
  • Neonatal and Adult Cholestasis
  • cholestasis
OMIM
613497
Clinvar variants
Variants in LIPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: LIPA. Tag Q4_21_NHS_review was removed from gene: LIPA.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to LIPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Nov 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LIPA were set to 8254026; 29702543; 8617513; 7759067; 8598644; 26137452; 29731497; 23485521

23 Nov 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: LIPA.

18 Nov 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: LIPA.

18 Nov 2020, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: LIPA was added gene: LIPA was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPA were set to 8254026; 29702543; 8617513; 7759067; 8598644; 26137452; 29731497; 23485521 Phenotypes for gene: LIPA were set to lysosomal acid lipase deficiency; Wolman disease, OMIM:278000, MONDO:0019148; Cholesteryl ester storage disease, OMIM:278000, MONDO:0019149; Neonatal and Adult Cholestasis; cholestasis