PIGV

phosphatidylinositol glycan anchor biosynthesis class V
OMIM: 610274, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green PIGV in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.58 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Amber PIGV in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Hyperphosphatasia with impaired intellectual development syndrome 1, MIM# 239300
Green PIGV in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Green PIGV in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Green PIGV 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 Green Genetic Health Queensland Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Green PIGV in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300
Green PIGV 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 Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
Green PIGV in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 HPMRS1
Green PIGV in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300
Green PIGV in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Green PIGV in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398