AGPS

alkylglycerone phosphate synthase
OMIM: 603051, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green AGPS in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Green AGPS in Cataract Level 2: Ophthalmological disorders Version 0.373	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green AGPS in Chondrodysplasia Punctata Level 2: Skeletal disorders Version 1.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121
Green AGPS in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121
Green AGPS in Peroxisomal Disorders Level 2: Metabolic disorders Version 0.54 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red AGPS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Green AGPS in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green UKGTN Radboud University Medical Center, Nijmegen NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121 Rhizomelic chondrodysplasia punctata, type 3 600121
Red AGPS in Monogenic Diabetes Level 2: Endocrine disorders Version 0.136 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lipodystrophy, congenital generalized, type 1, 608594
Green AGPS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)
Red AGPS in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Rhizomelic chondrodysplasia punctata, type 3
Green AGPS in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Green AGPS in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121
Red AGPS in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Rhizomelic chondrodysplasia punctata, type 3
Green AGPS in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)