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  2. Chondrodysplasia punctata
  3. GNPAT
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Chondrodysplasia punctata

Gene: GNPAT

Green List (high evidence)
GNPAT (glyceronephosphate O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116906
EnsemblGeneIds (GRCh37): ENSG00000116906
OMIM: 602744, Gene2Phenotype
GNPAT is in 10 panels

3 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Apr 2016, 9:54 p.m.

Panel version: 1.0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 29 Feb 2016, 5:41 p.m.
Comment on list classification: Promoted from amber to green due to a green review, and it is a confirmed DD gene for this phenotype.
Created: 29 Feb 2016, 5:40 p.m.
Created: 29 Feb 2016, 5:40 p.m.

Panel version: 0.11

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhizomelic chondrodysplasia punctata type 2

Created: 23 Feb 2016, 4:03 p.m.

Panel version: 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Rhizomelic Chondrodysplasia Punctata
  • Chondrodysplasia punctata, rhizomelic, type 2, 222765
  • Rhizomelic chondrodysplasia punctata type 2
OMIM
602744
Clinvar variants
Variants in GNPAT
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GNPAT were set to Rhizomelic Chondrodysplasia Punctata; Chondrodysplasia punctata, rhizomelic, type 2, 222765; Rhizomelic chondrodysplasia punctata type 2

29 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GNPAT was changed to BIALLELIC, autosomal or pseudoautosomal

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

GNPAT was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GNPAT was added to Chondrodysplasia punctatapanel. Sources: Illumina TruGenome Clinical Sequencing Services