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  2. Autosomal recessive congenital ichthyosis
  3. PNPLA1
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Autosomal recessive congenital ichthyosis

Gene: PNPLA1

Green List (high evidence)
PNPLA1 (patatin like phospholipase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000180316
EnsemblGeneIds (GRCh37): ENSG00000180316
OMIM: 612121, Gene2Phenotype
PNPLA1 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. One reviewer recommends Green. More than three variants in different populations
Created: 8 Jun 2016, 8:50 a.m.
Created: 8 Jun 2016, 8:50 a.m.

Panel version: 0.13

John McGrath (King's College London)

Green List (high evidence)

PNPLA1 only joined the list in 2012, initially found in dogs, but subsequently in 3 or 4 families - clinically ARCI so this seems to be a real but rare gene for ARCI
Created: 18 Nov 2015, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARCI 10; Ichthyosis, congenital, autosomal recessive 10

Created: 18 Nov 2015, 2:50 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, 615024
OMIM
612121
Clinvar variants
Variants in PNPLA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PNPLA1 were set to 24344921; 6691440; 26778108

8 Jun 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024

26 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PNPLA1 was added to Autosomal recessive congenital ichthyosispanel. Source: Illumina TruGenome Clinical Sequencing Services

26 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PNPLA1 was added to Autosomal recessive congenital ichthyosispanel. Sources: Radboud University Medical Center, Nijmegen

26 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PNPLA1 was created by ellenmcdonagh