Cataracts

Gene: GNPAT

Green List (high evidence)

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
rhizomelic chondrodysplasia punctata type 2 (RCDP2)

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2 (which includes cataract). Multiple different variants reported in OMIM with an association with Rhizomelic chondrodysplasia punctata, type 2.
Created: 29 Apr 2016, 12:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2
  • rhizomelic chondrodysplasia punctata type 2 (RCDP2)
OMIM
602744
Clinvar variants
Variants in GNPAT
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 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).

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GNPAT were set to Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2;rhizomelic chondrodysplasia punctata type 2 (RCDP2)

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GNPAT were set to Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2

31 May 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

13 May 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).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GNPAT was added to Cataractspanel. Sources: UKGTN