PIGA

phosphatidylinositol glycan anchor biosynthesis class A
OMIM: 311770, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
No list PIGA in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	Unknown	Sources Expert list Phenotypes PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818
Green PIGA 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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Green PIGA in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868 Neurodevelopmental disorder with epilepsy and haemochromatosis MIM#301072
Red PIGA in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868
Green PIGA in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Green PIGA in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Red PIGA in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Green PIGA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Green PIGA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Green PIGA in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category C gene Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Red PIGA in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes MCAHS2 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Green PIGA in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.45 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072
Green PIGA in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868
Green PIGA in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Red PIGA in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466