PIGL

phosphatidylinositol glycan anchor biosynthesis class L
OMIM: 605947, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PIGL in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags SV/CNV founder
Green PIGL in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags SV/CNV founder
Green PIGL in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CHIME syndrome, MIIM# 280000
Green PIGL in Ichthyosis Level 2: Dermatological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags SV/CNV founder
Green PIGL in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags SV/CNV founder
Green PIGL in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags SV/CNV founder
Green PIGL 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 CHIME syndrome, 280000 (3)
Red PIGL in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes CHIME COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
Green PIGL in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags SV/CNV
Green PIGL in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CHIME syndrome, 280000 (3)