ALG9

ALG9, alpha-1,2-mannosyltransferase
OMIM: 606941, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ALG9 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Green ALG9 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 Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Green ALG9 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776
Green ALG9 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Polycystic kidney disease ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000
Green ALG9 in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 0.69 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM#263210 Polycystic kidney disease ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000
Green ALG9 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776
Green ALG9 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 Congenital disorder of glycosylation, type Il, MIM#608776
Green ALG9 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Gillessen-Kaesbach-Nishimura syndrome 263210 Congenital disorder of glycosylation, type Il 608776 Gillessen-Kaesbach-Nishimura syndrome 263210
Green ALG9 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 Congenital disorder of glycosylation, type Il, 608776 (3)
Amber ALG9 in Polycystic liver disease Level 2: Gastroenterological disorders Version 1.8 Component of the following Super Panels: Liverome Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Polycystic liver and kidney disease
Green ALG9 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Red ALG9 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 GILLESSEN-KAESBACH-NISHIMURA SYNDROME GIKANIS
Green ALG9 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Green ALG9 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Il, 608776 (3)
Red ALG9 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Congenital disorder of glycosylation, type Il, MIM#608776