GNPAT

glyceronephosphate O-acyltransferase
OMIM: 602744, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green GNPAT in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.230	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green GNPAT in Cataract Level 2: Ophthalmological disorders Version 0.373	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GNPAT in Chondrodysplasia Punctata Level 2: Skeletal disorders Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765 MONDO:0009112
Green GNPAT in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765 MONDO:0009112
Green GNPAT in Peroxisomal Disorders Level 2: Metabolic disorders Version 0.54 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GNPAT in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes glyceronephosphate O-acyltransferase deficiency MONDO:0100273
Green GNPAT in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen NHS GMS Victorian Clinical Genetics Services Phenotypes RCDP2 Rhizomelic Chondrodysplasia Punctata Rhizomelic chondrodysplasia punctata type 2 Chondrodysplasia punctata, rhizomelic, type 2, 222765
Green GNPAT in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
Green GNPAT in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765 MONDO:0009112
Green GNPAT in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rhizomelic chondrodysplasia punctata, type 2 (MIM# 22276)5)
Green GNPAT in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)